Existing law requires the State Department of Public Health to establish a genetic disease unit to, among other responsibilities, promote a statewide program of information, testing, and counseling services related to genetic diseases, and administer that information, testing, and counseling to each child born in the state, unless the childs parent or guardian objects to a test on the grounds of religious beliefs or practices.

This bill would require the department to provide information about the testing program and to permit the parent or legal guardian to withhold consent to the storage, retention, and opt out of the retention or use of the newborn childs blood sample for medical research. The bill would prohibit any residual newborn screening specimen from being released to any person or entity for law enforcement purposes or to establish a database for forensic identification. The bill would authorize a parent or guardian of a minor child, and the newborn child, once they are at least 18 years of age, to request that the department destroy the blood sample, not use it for research purposes, or both, and the residual screening specimen or retain the specimen, but not use it for research purposes. The bill would require the department to comply with the request. The bill would require the department, if the individual makes a request to destroy the blood sample specimen or to not use it for research purposes, to acknowledge receipt of the request and notify the individual that the blood sample specimen has been destroyed, as specified.

The bill would require the department, on or before January 1, 2025, 2026, to provide prepare an informational brochure regarding the collection, storage, retention, and use of the blood sample in a separate, double-sided, single-page format, as specified. The bill would require the department, on or before January 1, 2026, to additionally prepare a separate standard informational acceptance form with a space for the parent or legal guardian of the newborn child to provide a signed and dated written acknowledgment of receipt of the informational brochure and would require the form to be maintained in the mothers medical file, as specified. The bill would also require the department, on or before January 1, 2025, 2026, to update the California Newborn Screening Test Request Form to include space for the parent or guardian to acknowledge receipt of the above-described brochure and to choose whether to consent to or refuse the genetic tests because of religious objections and whether to consent to the storage or use for research of the blood sample. to choose whether to opt out of the retention or use for research of the residual screening specimen. The bill would require the form to have a space for the parent or guardian to sign and date the form to confirm their receipt of the brochure and their choices. choice. The bill would require specified persons to distribute the informational brochure, including the local registrar of births to provide a copy of the informational brochure to each person registering the birth of a newborn that occurred outside of a perinatal licensed health facility, as specified. The bill would also require the local registrar to notify the local health officer and the department of each of these registrations by the local registrar. By imposing additional duties on local registrars of births, this bill would impose a state-mandated local program.

The California Constitution requires the state to reimburse local agencies and school districts for certain costs mandated by the state. Statutory provisions establish procedures for making that reimbursement.

This bill would provide that, if the Commission on State Mandates determines that the bill contains costs mandated by the state, reimbursement for those costs shall be made pursuant to the statutory provisions noted above.

Existing law requires the State Department of Public Health to establish a genetic disease unit to, among other responsibilities, promote a statewide program of information, testing, and counseling services related to genetic diseases, and administer that information, testing, and counseling to each child born in the state, unless the childs childs parent or guardian objects to a test on the grounds of religious beliefs or practices.

This bill would require the department to provide information about the testing program and to permit the parent or legal guardian to withhold consent to the storage, retention, and use of the newborn childs blood sample for medical research. The bill would prohibit any residual newborn screening specimen from being released to any person or entity for law enforcement purposes or to establish a database for forensic identification. The bill would authorize a parent or guardian of a minor child, and the newborn child, once they are at least 18 years of age, to request that the department destroy the blood sample, not use it for research purposes, or both, and the bill would require the department to comply with the request. The bill would require the department, if the individual makes a request to destroy the blood sample or to not use it for research purposes, to acknowledge receipt of the request, request and notify the individual that the blood sample has been destroyed, as specified.

The bill would require the department department, on or before January 1, 2025, to provide an informational brochure regarding the collection, storage, retention, and use of the blood sample in a separate, double-sided, single-page format, as specified. The bill would also require the department to prepare and provide a standard form with a plain-language explanation of, and the purpose for, the newborn child screening test and retention of newborn child blood samples. The bill would require the standard form to be provided to, and signed by, the parent or guardian. department, on or before January 1, 2025, to update the California Newborn Screening Test Request Form to include space for the parent or guardian to acknowledge receipt of the above-described brochure and to choose whether to consent to or refuse the genetic tests because of religious objections and whether to consent to the storage or use for research of the blood sample. The bill would require the form to have a space for the parent or guardian to sign and date the form to confirm their receipt of the brochure and their choices. The bill would require specified persons to distribute the informational brochure and standard form, brochure, including the local registrar of births to provide a copy of the informational brochure and a copy of the standard form to each person registering the birth of a newborn that occurred outside of a perinatal licensed health facility, as specified. The bill would also require the local registrar to notify the local health officer and the department of each of these registrations by the local registrar. By imposing additional duties on local registrars of births, this bill would impose a state-mandated local program.

The California Constitution requires the state to reimburse local agencies and school districts for certain costs mandated by the state. Statutory provisions establish procedures for making that reimbursement.

This bill would provide that, if the Commission on State Mandates determines that the bill contains costs mandated by the state, reimbursement for those costs shall be made pursuant to the statutory provisions noted above.

Existing law requires the State Department of Public Health to establish a genetic disease unit to, among other responsibilities, promote a statewide program of information, testing, and counseling services related to genetic diseases, and administer that information, testing, and counseling to each child born in the state, unless the childs parent or guardian objects to a test on the grounds of religious beliefs or practices.

This bill would require the department to provide information about the testing program, and to obtain written consent from the parent or guardian acknowledging receiving information regarding program and to permit the parent or legal guardian to withhold consent to the storage, retention, and use of the newborn childs blood sample for medical research. The bill would prohibit any residual newborn screening specimen from being released to any person or entity for law enforcement purposes or to establish a database for forensic identification. The bill would authorize a parent or guardian of a minor child, and the newborn child, once they are at least 18 years of age, to request that the department destroy the blood sample, not use it for research purposes, or both, and the bill would require the department to comply with the request. The bill would require the department, if the individual making makes a request to destroy the blood sample or to not use it for research purposes provides their email address, to send an email to the individual acknowledging that the department received the request. purposes, to acknowledge receipt of the request, as specified.

The bill would require the department to provide the information an informational brochure regarding the collection, storage, retention, and use of the blood sample in a separate, double-sided, single-page format, as specified. The bill would also require the department to prepare and provide a standard form with a plain-language explanation of, and the purpose for, the newborn child screening test and retention of newborn child blood samples. The bill would require the standard form to be provided to, and signed by, the parent or guardian when either version of the informational materials is provided. guardian. The bill would require specified persons to distribute the informational material brochure and standard form, including the local registrar of births to provide a copy of the informational material brochure and a copy of the standard form to each person registering the birth of a newborn that occurred outside of a perinatal licensed health facility, as specified. The bill would also require the local registrar to notify the local health officer and the department of each of these registrations by the local registrar. By imposing additional duties on local registrars of births, this bill would impose a state-mandated local program.

The California Constitution requires the state to reimburse local agencies and school districts for certain costs mandated by the state. Statutory provisions establish procedures for making that reimbursement.

This bill would provide that, if the Commission on State Mandates determines that the bill contains costs mandated by the state, reimbursement for those costs shall be made pursuant to the statutory provisions noted above.

Existing law requires the State Department of Public Health to establish a genetic disease unit to, among other responsibilities, promote a statewide program of information, testing, and counseling services related to genetic diseases, and administer that information, testing, and counseling to each child born in the state, unless the childs parent or guardian objects to a test on the grounds of religious beliefs or practices.

This bill would require the department to provide information about the testing program, and to obtain written consent from the parent or guardian acknowledging receiving information regarding the storage, retention, and use of the newborn childs blood sample for medical research. The bill would prohibit any residual newborn screening specimen from being released to any person or entity for law enforcement purposes or to establish a database for forensic identification. The bill would authorize a parent or guardian of a minor child, and the newborn child, once they are at least 18 years of age, to request that the department destroy the blood sample, not use it for research purposes, or both, and the bill would require the department to comply with the request. The bill would require the department, if the individual making a request to destroy the blood sample or to not use it for research purposes provides their email address, to send an email to the individual acknowledging that the department received the request.

The bill would require the department to provide the information regarding the collection, storage, retention, and use of the blood sample in a separate, single-page format, as specified. The bill would also require the department to prepare and provide a standard form with a plain-language explanation of, and the purpose for, the newborn child screening test and retention of newborn child blood samples. The bill would require the standard form to be provided to, and signed by, the parent or guardian when either version of the informational materials is provided. The bill would require specified persons to distribute the informational material and standard form, including the local registrar of births to provide a copy of the informational material and a copy of the standard form to each person registering the birth of a newborn that occurred outside of a perinatal licensed health facility, as specified. The bill would also require the local registrar to notify the local health officer and the department of each of these registrations by the local registrar. By imposing additional duties on local registrars of births, this bill would impose a state-mandated local program.

The California Constitution requires the state to reimburse local agencies and school districts for certain costs mandated by the state. Statutory provisions establish procedures for making that reimbursement.

This bill would provide that, if the Commission on State Mandates determines that the bill contains costs mandated by the state, reimbursement for those costs shall be made pursuant to the statutory provisions noted above.

SENATE COMMITTEE ON

Senator Anthony Portantino, Chair

2023 - 2024 Regular Session

SB 625 (Nguyen) - Newborn screening: genetic diseases: blood samples collected

Bill Summary:

SB 625 would make changes to the California Newborn Screening Program.

Fiscal Impact:

• The California Department of Public Health (CDPH) estimates costs between

$3.8 million to $4 million (including one-time costs) in the first year and $1.6 million in ongoing costs thereafter to administer the provisions of the bill (Genetic Disease Testing Fund).

• Cost to local registrars for administration would be potentially reimbursable by the state, subject to a determination by the Commission on State Mandates.

Background:

CDPH administers the California Newborn Screening Program (CNSP), which is a statewide program of information, testing, and counseling services for genetic diseases. In 1966, California began its CNSP with the testing of phenylketonuria. Since its creation, the CNSP has been expanded several times as new discoveries are made and tests developed, and now screens for more than 80 disorders.

Prior to leaving the hospital, a few drops of blood from a newborn’s heel are collected on filter paper. According to CDPH, the newborn screening test should be done when the baby is at least 12 hours of age but before six days of age. The ideal time to do the test is when the baby is between 24 and 48 hours of age. Blood collected before 12 hours of age is not always reliable for some metabolic diseases. Samples are sent to regional labs that contract with CDPH for testing, and results are sent to CDPH for data collection and quality control. It takes two to three weeks for the doctor to receive the written results, and parents obtain the test results from the baby’s doctor. If the baby needs more tests, parents are notified a few days after discharge from the hospital. Positive test results are immediately telephoned to a follow-up coordinator at one of the Newborn Screening Area Service Centers throughout the state. The coordinator contacts the newborn’s physician to arrange for repeat testing. If repeat testing determines that the baby has a disorder, the coordinator will supply the latest clinical information on diagnosis and treatment and assist with referrals to special care.

The current pamphlet “Screening Your Newborn: Important Information for Parents about Newborn Blood Spot Screening” explains the CNSP test, how it is done, how to get results, what happens to the blood spots after the screen, and the parents’ right to have the specimen card destroyed and how to do so or how to find additional information about CNSP.

The California Biobank Program (CBP) is a large and diverse biobank maintained by CDPH, which includes over 20 million newborn leftover blood spots. These samples were collected for testing by CNSP. The CBP is mandated to make specimens and data available to researchers for the following approved purposes: identifying risk factors for children’s and women’s diseases; developing and evaluating screening tests (including updating the CNSP test); developing and evaluating screening strategies; and, developing and evaluating treatment. All research projects are required to be approved by the State Committee for the Protection of Human Subjects to evaluate the design, ethics, and confidentiality of the study. Once a project is complete, any remaining blood must be destroyed.

Proposed Law:

Specific provisions of the bill would:

• Require CDPH to permit the parent or legal guardian to opt out of the retention and confidential use of their newborn’s residual screening specimen for research purposes by the department or the department’s approved researchers in writing at the time the newborn’s blood sample is taken.
• Require that a residual screening specimen not be released to any person or entity for law enforcement purposes or to establish a database for forensic identification.
• Require that a minor’s parent or legal guardian may request the department to do either of the following:

a)  Destroy the minor’s residual screening specimen.

b)  Retain the residual screening specimen, but not use it for research purposes.

• Require that an individual who is at least 18 years of age may request the department to do either of the following:

1. Destroy the individual’s residual screening specimen.
2. Retain the residual screening specimen, but not use it for research purposes.

• Require CDPH to prepare an informational brochure regarding newborn child blood samples collected, as specified.
• Require CDPH to prepare a standard informational acceptance form, as specified.
• Impose requirements on primary prenatal providers, perinatal licensed health facilities, and local registrars of births and deaths regarding the distribution of the informational brochure and the standard information acceptance form.
• Require CDPH to update the California Newborn Screening Test Request Form, as specified.

-- END --

SENATE JUDICIARY COMMITTEE

Senator Thomas Umberg, Chair

2023-2024 Regular Session

Bill No: SB 625 (Author:Nguyen)

Version: January 3, 2024

Hearing Date: January 11, 2024

Fiscal: Yes

Urgency: No

Consultant: CK

SUBJECT

Newborn screening: genetic diseases: blood samples collected

DIGEST

This bill makes changes to the California Newborn Screening Program.

EXECUTIVE SUMMARY

The California Newborn Screening Program (CNSP) screens all babies born in California for various serious, but treatable, genetic disorders. At the outset, the program tested for only one disorder, phenylketonuria (PKU). However, the program has expanded to cover over 80 different disorders. Currently, the only valid basis for objecting to the test is if the testing conflicts with the parents’ religious beliefs or practices.

Concerns have arisen about parental consent and notice regarding blood specimen collection, retention, and use. This bill makes a number of changes to the program. It explicitly requires the California Department of Public Health (CDPH) to permit the parent or legal guardian to withhold consent to allow for the storage and confidential use of the blood sample of the child for research purposes. The parent or legal guardian shall be offered the opportunity to withhold their consent in writing before or at the time the blood sample of the minor is taken. It empowers the parent or legal guardian of the child, and the child, as provided, to request CDPH destroy the blood sample, or not use it for research purposes, or both. The bill prohibits the specimen from being released to any person or entity for law enforcement purposes.

This bill is sponsored by the California Health Coalition Advocacy. It is supported by various organizations, including the Electronic Frontier Foundation and A Voice for Choice Advocacy. It is opposed by the California Medical Association and California Hospital Association. The bill originally failed passage in the Senate Health Committee, but after being amended and granted reconsideration, passed on a 7 to 1 vote.

PROPOSED CHANGES TO THE LAW

Existing law:

1. Requires CDPH to establish a genetic disease unit to coordinate all CDPH programs in the area of genetic disease that will promote a statewide program of information, testing, and counseling services; and, have the responsibility of designating tests and regulations to be used in executing the California Newborn Screening Program (CNSP). (Health & Saf. Code § 125000.)
2. Requires CDPH to include in the CNSP screening for phenylketonuria, fatty acid oxidation, amino acid, organic acid disorders, congenital adrenal hyperplasia, severe combined immunodeficiency (SCID), adrenoleukodystrophy (ALD), and any other disease that is detectable in blood samples as soon as practicable, but no later than two years after the disease is adopted by the federal Recommended Uniform Screening Panel (RUSP) or state law is amended, whichever is later. (Health & Saf. Code §§ 125000, 12501.)
3. Requires CDPH to evaluate and prepare recommendations on the implementation of tests for the detection of hereditary and congenital diseases, including, but not limited to, biotinidase deficiency and cystic fibrosis. Requires CDPH to also evaluate and prepare recommendations on the availability and effectiveness of preventative follow-up interventions, including the use of specialized medically necessary dietary products. (Health & Saf. Code § 125000.)
4. Requires birth attendants to provide pregnant persons, prior to the estimated delivery date, with a copy of CDPH’s informational material entitled “Important Information for Parents.” Requires perinatal licensed health facilities to provide the same to those admitted for delivery if they have not already received it and to translate or read the material in a language they understand if they cannot read it. (17 C.C.R. §§ 6504, 6504.2.)
5. Authorizes the parent or guardian of a newborn child to opt out of the CNSP if they object to a test on the ground that the test conflicts with their religious beliefs or practices. Requires parents or guardians who opt out to sign a refusal form approved by CDPH and provided by the physician or birth attendant. Requires the form to be translated or read in a language understood by the parent or guardian if they cannot read the form. (Health & Saf. Code § 125000; 17 C.C.R. § 6501.2.)
6. Requires perinatal health facilities to collect the CNSP blood spot specimen when a newborn is between 12 and 48 hours old, with certain exceptions, and send such specimen to a CNSP laboratory on the same or next business day. For infants not born in a perinatal licensed health facility, but admitted to such a facility, the facility is required to obtain a specimen within 48 hours of admission and send it to a CNSP laboratory on the same or next business day. For infants neither born nor admitted to a perinatal licensed health facility after birth, the out-of-hospital provider is required to collect the CNSP specimen when a newborn is between 12 and 48 hours old, unless a religious objection is executed, and sent to a CNSP laboratory on the same or next business day. (17 C.C.R. § 6505.)
7. Requires county registrars of births to provide a copy of the informational material described above to each person registering the birth of a newborn that occurred outside of a perinatal health facility when the newborn was not admitted to such a facility within the first 30 days of age. Requires the county registrar of birth to notify the local health officer and CDPH of this birth, and requires the local health department to make every reasonable effort to obtain CNSP specimens. Permits local health departments, with permission from CDPH, to terminate efforts to obtain the CNSP specimen after 30 days. (17 C.C.R. §§ 6505, 6507.1.)
8. Requires CDPH to provide the following forms for the administration of the CNSP: the California Newborn Screening Test Request Form (CDPH-4409) and the Notification of Registration of Birth Which Occurred Out of a Licensed Health Facility (CDPH-4460). (17 C.C.R. § 6501.5.)
9. Requires CNSP results to be available to individuals over 18 years of age or the individual’s parent or guardian. Requires results to be held as a confidential medical record, except for data compiled without reference to the identity of any individual and for research purposes, provided that the research has first been reviewed and approved by an institutional review board, as specified. Requires any disclosure of information to preserve the anonymity of the persons tested unless the person has given written consent to disclose the information. (Health & Saf. Code § 124980; 17 C.C.R. § 6502.1.)
10. Requires CDPH to charge a fee for newborn screening and follow-up services, and requires the amount of the fee to be periodically adjusted in order to meet the costs of the CNSP. (Health & Saf. Code § 125000.)

This bill:

1. Requires CDPH to permit the parent or legal guardian to withhold consent to allow for the storage and confidential use of the blood sample of the minor for research purposes by CDPH or their approved researchers. The parent or legal guardian shall be offered the opportunity to withhold their consent in writing before or at the time the blood sample of the minor is taken.
2. Prohibits a residual newborn screening specimen from being released to any person or entity for law enforcement purposes or to establish a database for forensic identification.
3. Grants a parent or legal guardian of a minor, or the minor once an adult, the right to request CDPH to destroy the blood sample of the minor collected as a newborn, or not use it for research purposes, or both, and CDPH shall comply with that request. If the person makes the request by email, the department shall send an email acknowledging that the department received the request within 30 days of receiving the request. If the request is in writing, CDPH shall send a written acknowledgment that the department received the request.
4. An individual who is at least 18 years of age may request the department to destroy, not use for research purposes, or both, their blood sample that was collected, and the department shall do so. If the individual makes the request by email, the department shall send an email acknowledging that the department received the request within 30 days of receiving the request. If the individual makes the request in writing, the department shall send a written acknowledgment that the department received the request.
5. Requires CDPH, on or before January 1, 2025, to prepare and provide an informational brochure regarding newborn child blood samples collected pursuant to this program that includes:
   1. a brief, plain-language explanation of, and the purpose for, the newborn child screening test and the storage, retention, and use of newborn child blood samples collected pursuant to this article, including that the samples may be shared with third parties for research purposes;
   2. a description of the benefits of both early newborn child screening and the associated research undertaken regarding preventable heritable or congenital disorders;
   3. a description of the California Biobank Program, specifically as it pertains to the Genetic Disease Screening Program, and subsequent storage, retention, and use of the newborn child’s blood sample for medical research;
   4. the parent or legal guardian’s right to refuse the test based on their religious beliefs;
   5. the parent or legal guardian’s right to withhold consent for their minor child’s blood sample to be stored and used for research purposes;
   6. the parent or legal guardian’s right to request that their minor child’s blood sample be destroyed, not used for research purposes, or both, if the parent or legal guardian has not initially withheld consent to the sample being stored and used for research purposes at the time the sample is taken, and the information necessary to make that request; and
   7. the right of an individual who is at least 18 years of age to request that their blood sample be destroyed, not used for research purposes, or both, and the information necessary to make that request.
6. Requires the above informational brochure be confined to a single, double-sided page and presented in a separate document from the California Newborn Screening Test Request Form (TRF).
7. Requires CDPH to update the TRF to include a list with appropriate checkboxes of all of the following:
   1. an acknowledgment of receipt of the informational brochure;
   2. the option to consent or refuse the initial screening test because of religious objections to the test;
   3. the option to consent or refuse the retention and storage of the newborn blood sample; and
   4. the option to consent or refuse the use of the newborn blood sample for research purposes.
8. Requires the updated form, immediately following the above list, to include space for the parent or legal guardian of the newborn to provide a dated signature acknowledging their receipt of the brochure and their relevant choices.
9. Provides that if the parent or legal guardian refuses the retention and storage of the sample and the sample tests negative for all hereditary conditions, CDPH must destroy the sample within 30 days of completing the authorized genetic screening tests. If the parent or legal guardian refuses the retention and storage of the sample and the sample tests positive for one or more hereditary conditions, the samples shall be retained only long enough to complete confirmation tests. CDPH must destroy the sample within 30 days of completing the confirmation tests.
10. Provides that if the parent or legal guardian refuses the use of the newborn blood sample for research purposes, CDPH must segregate the sample from those samples that are authorized for use in research.
11. Provides that if emergency circumstances make it impossible to obtain the required signature, a note shall be placed in the medical record of the birthing parent documenting the emergency or reason why the signature could not be obtained. The newborn child shall be administered the genetic screening tests, but the newborn child’s blood sample shall not be stored or retained for medical research. If the signature is not obtained and the sample tests negative for all hereditary conditions, CDPH shall destroy the sample within 30 days of completing the authorized genetic screening tests. If the signature is not obtained and the sample tests positive for one or more hereditary conditions, the sample shall be retained only long enough to complete confirmation tests. CDPH shall destroy the sample within 30 days of completing the confirmation tests.
12. Requires the informational brochure to be distributed as follows:
    1. a birth attendant engaged in providing perinatal care shall provide a pregnant person, at least four weeks prior to the estimated date of delivery, with a copy of the informational brochure;
    2. if the informational brochure has not been so provided, a perinatal licensed health facility shall provide each pregnant person admitted for delivery with a copy; and
    3. the local registrar of births and deaths shall provide a copy of the informational brochure to each person registering the birth of a newborn that occurred outside of a perinatal licensed health facility when the newborn was not admitted to a perinatal licensed health facility within the first 30 days after birth. The local registrar of births and deaths shall notify the local health officer and the department of each of these registrations.
13. Requires a health care professional that has entered information about an infant on the updated TRF, after entering the information and prior to blood samples being drawn from the newborn, to provide the form to the parent or legal guardian of the infant. The parent or legal guardian shall be given a reasonable amount of time to verify the information on the form, acknowledge receipt of the brochure, indicate their choices about the use of the infant’s blood, and to sign and date the form. After the parent or legal guardian has signed and dated the form, a health care professional may draw blood from the infant.
14. Defines “birth attendant” as a person licensed or certified by the state to provide maternity care and to deliver pregnant women or to practice medicine. “Perinatal licensed health facility” means a health facility licensed by the state and approved to provide perinatal, delivery, newborn intensive care, newborn nursery, or pediatric services.

COMMENTS

1. Screening newborns for potential genetic disorders

The California Newborn Screening (NBS) Program is a public health program that screens all babies for many serious but treatable genetic disorders. Newborn screening began in California in 1966 and has grown to include screening for 80 different disorders, both genetic (passed down in families) and congenital (present at birth). The purpose of the program is to detect these disorders early so they can be treated from shortly after birth.

Medical professionals take a blood sample from each newborn baby within the first few days of birth and carry out the screening. Currently parents can object to the screening only on religious grounds. However, all parents are authorized to thereafter contact

the program to have the blood specimen destroyed after screening.

Attendant regulations require that pregnant persons are given a copy of the informational material, entitled “Important Information for Parents,” provided by CDPH. The brochure lays out what the program is, why it is carried out, and how it is done. It also lays out what happens with the blood specimen after the testing:

What Happens to My Baby’s Blood Spots After the Newborn Screening Test is Done? California, like many other states, stores newborn screening bloodspot cards. The bloodspot cards may be used for tests to improve the screening program or to develop tests for new disorders. The bloodspots may also be used for studies about diseases in women and children. The stored bloodspot cards do not have information, such as names or addresses, that can be used to identify you or your baby. The program follows all federal and state privacy and research laws. If you want the bloodspot card destroyed after the newborn screening test is done, that is your right.

To learn more about the storage and use of leftover blood spots, or to find out how to get your baby’s bloodspot card destroyed, visit: https://www.cdph.ca.gov/Programs/CFH/DGDS/Pages/NBS/IIP.aspx

California law requires the NBS program to use or provide newborn screening specimens for department-approved studies of diseases in women and children, such as research related to identifying and preventing disease. This could be to study birth defects, chronic disease, or exposure to toxins or infections.

1. Providing disclosures and notice of rights

This bill seeks to further increase parental and individual control around the program. According to the author:

Through great strides made in medical technology and science, humans can literally see the genetic building blocks that make them who they are and, in some instances, can use that information for genealogical or medical histories for families. But with great power and technology, some guardrails should be established, especially about who can access the genetic information and data. Parents and guardians should be fully informed about the process of collecting, analyzing and storing genetic information collected from newborn infants. There is no denying the importance of the work by the Department of Public Health and this screening program but Californians should have a choice in how their information is used and accessed.

This bill statutorily requires creation and dissemination of an informational brochure that educates parents about the newborn screening program, the benefits of the program, and the parents’ rights with regard to the program. This includes not only the right to refuse the test for religious reasons and the right to ask for the destruction of the specimen collected, but also the right to withhold consent to allow for the storage and confidential use of the blood sample for research purposes by CDPH. The bill establishes this right and specifically requires that the parent be offered the opportunity to withhold consent in writing before or at the time the blood sample of the baby is taken.

The bill also requires the existing TRF to be updated to include a list with appropriate checkboxes of all of the following:

• An acknowledgment of receipt of the informational brochure.
• The option to consent or refuse the initial screening test because of religious objections to the test.
• The option to consent or refuse the retention and storage of the newborn blood sample.
• The option to consent or refuse the use of the newborn blood sample for research purposes.

Immediately following the above list, the form must include space for the parent or legal guardian of the newborn to provide a dated signature acknowledging their receipt of the brochure and their relevant choices. The bill provides clear guidelines for what to do with the samples if consent is refused based on the circumstances. If the parent or legal guardian refuses the use of the newborn blood sample for research purposes, CDPH must segregate the sample from those samples that are authorized for use in research. If emergency circumstances make it impossible to obtain the required signature, a note shall be placed in the medical record of the birthing parent documenting the emergency or reason why the signature could not be obtained. The newborn child shall be administered the genetic screening tests, but the newborn child’s blood sample shall not be stored or retained for medical research. If the signature is not obtained and the sample tests negative for all hereditary conditions, CDPH shall destroy the sample within 30 days of completing the authorized genetic screening tests. If the signature is not obtained and the sample tests positive for one or more hereditary conditions, the sample shall be retained only long enough to complete confirmation tests. CDPH shall destroy the sample within 30 days of completing the confirmation tests.

A health care professional that has entered information about an infant on the updated TRF, after entering the information and prior to blood samples being drawn from the newborn, must provide the form to the parent or legal guardian of the infant. The parent or legal guardian shall be given a reasonable amount of time to verify the information on the form, acknowledge receipt of the brochure, indicate their choices about the use of the infant’s blood, and to sign and date the form. The bill specifically provides that only after the parent or legal guardian has signed and dated the form is a health care professional authorized to draw blood from the infant.

The bill also establishes a strong protection for specimens collected. It explicitly prohibits releasing a residual newborn screening specimen to any person or entity for law enforcement purposes or to establish a database for forensic identification.

The law in part is driven by articles sounding the alarm as to potential privacy intrusions into the biobanks holding these specimens. One began:

It’s a little-known fact: California stores newborn blood spot (NBS) samples from every child born in the state. Parents don’t have to consent, so many don’t even know.

DNA from the samples may be used for potentially life-saving research, but in light of the Golden State Killer case and evolving DNA technology, there are new questions about what else the DNA is being used for and why the state does not ask for consent before indefinitely storing a child’s DNA.^[1]

The Electronic Frontier Foundation writes in support:

Newborn screening is standard in California and across the country and is considered one of the most successful public health programs. The increasing use of the database for law enforcement investigations, however, threatens to undermine the trust everyone can place in this important database. S.B. 625 would ensure that the state places commonsense privacy guardrails on this information, including blocking its use from law enforcement and setting reasonable data maintenance and consent rules around the information.

California takes pride in leading the country on protecting privacy, enshrining the right to privacy in the state constitution by ballot initiative in 1972. Yet California parents are not informed about the blood samples taken from every infant and stored indefinitely in the state’s database. No one is asked for their consent to participate in medical research that may use that database. No one is asked if it is alright when researchers work to map the genomes from these samples. No one can ask for them to be destroyed. S.B. 625 would establish rules to give people this kind of control over these samples—collected for the best of intentions, but increasingly reappropriated for uses that are far outside the original intent.

California Health Coalition Advocacy, the sponsor of the bill, writes that the bill is “needed to provide important information about newborn screening to parents and guardians and protect the genetic privacy of children born in California.”

Although many of the provisions of the bill simply codify existing practices and regulations, serious concerns have been raised about the practical effects of the bill, including the provision requiring signatures before a blood sample may be taken. Writing in opposition, the California Hospital Association asserts:

Current law requires health care providers to give all pregnant patients a one-page handout from CDPH that explains the newborn screening program. The handout informs patients about how to opt out of having their baby’s blood spot tested for religious reasons and how to have their baby’s blood spot destroyed after testing so it is not used for research.

As currently written, SB 625 would require every Californian giving birth (500,000 per year) to fill out a form with three choices (whether or not to test/store/use blood for research) and four different signature lines (acknowledgement of receipt, test, store, research). The bill would create a huge administrative challenge for moms, obstetricians, hospitals, and CDPH to obtain, store, and transmit these 500,000 forms and, most importantly, match them to the correct baby and blood spot card. It is inevitable that mistakes will be made (by the mother, doctor, hospital, or CDPH), and some babies will fall through the cracks and not get tested — with potentially devastating consequences.

The California Medical Association argues in opposition:

SB 625 would change the research component of the newborn screening program from opt out to opt in which we believe jeopardizes important research about infant health conditions. There are already safeguards in place to allow patients to change their mind regarding whether to opt into the program which proves the medical profession with invaluable research to improve the lives of children. For these reasons we are opposed to SB 625.

Stanford Hospital writes in opposition:

California enjoys a robust newborn screening program that allows for early detection of numerous rare and serious conditions. With this information in hand, pediatricians and others are in a position to promptly treat these conditions before more serious health issues arise. Additionally, the research use of these samples and related data is essential to develop better diagnostic tests for congenital and heritable diseases as well as illnesses from environmental exposure.

Stanford and others in the hospital community are concerned the bill could compromise California’s newborn screening program by making it an opt-in, as opposed to the current opt-out option. Additionally, by requiring the new interim step of obtaining written consent, further administrative time and resources will be needed for proper documentation.

In response to the concerns raised by opposition, the author has agreed to amendments that will bring both the California Medical Association and the California Hospital Association to neutral. Among other changes, the amendments provide more flexibility for the required forms and update language. Due to timing constraints, these amendments will be processed in the Senate Appropriations Committee.

SUPPORT

California Health Coalition Advocacy (sponsor)
A Voice for Choice Advocacy

ACLU California Action

American Nurses Association - California

California Health Coalition Advocacy

Central Coast Health Coalition

Educate. Advocate.

Electronic Frontier Foundation

National Association of Pediatric Nurse Practitioners (NAPNAP)

Oakland Privacy

Physicians & Patients Reclaiming Medicine

Nine individuals

OPPOSITION

California Children’s Hospital Association

California Hospital Association

California Medical Association

Children’s Specialty Care Coalition

Children’s Hospital of Orange County

Lucile Packard Children’s Hospital – Stanford Children’s Health

Stanford Health Care

RELATED LEGISLATION

Pending Legislation: SB 570 (Becker, 2023) prevents CDPH from prohibiting a laboratory, as specified, from offering all noninvasive prenatal tests, as ordered by a prenatal care provider, or otherwise limit the number of tests that the laboratory may provide to a pregnant person who has an order from a prenatal care provider. SB 570 is currently in the Assembly Appropriations Committee.

Prior Legislation:

SB 41 (Umberg, Ch. 596, Stats. 2021) established the Genetic Information Privacy Act, providing additional protections for genetic data by regulating the collection, use, maintenance, and disclosure of such data.

AB 556 (Maienschein, Ch. 170, Stats. 2021) established a private cause of action for damages against a person who misuses sperm, ova, or embryos in violation of Section 367g of the Penal Code. AB 556 provides for damages for a prevailing plaintiff, including actual or statutory damages.

AB 170 (Gatto, 2015) was substantially similar to this bill. AB 170 died in the Senate Health Committee.

PRIOR VOTES:

Senate Health Committee (Ayes 7, Noes 1) Do pass as amended.

Senate Health Committee (Ayes 11, Noes 0) Reconsideration granted.

Senate Health Committee (Ayes 6, Noes 1) Failed passage in Committee.

**************

1. Julie Watts, CA Still Storing Newborn DNA Without Consent. Golden State Killer Case Raising New Concerns (Dec. 7, 2020) CBS Sacramento, https://www.cbsnews.com/sacramento/news/newborn-dna-california-consent-gsk-killer/ [as of Dec. 28, 2023]. ↑

SENATE JUDICIARY COMMITTEE

Senator Thomas Umberg, Chair

2023-2024 Regular Session

Bill No: SB 625 (Author:Nguyen)

Version: April 24, 2023

Hearing Date: April 25, 2023

Fiscal: Yes

Urgency: No

Consultant: CK

SUBJECT

Newborn screening: genetic diseases: blood samples collected

DIGEST

This bill makes changes to the California Newborn Screening Program, including requiring the California Department of Public Health to permit parents or legal guardians to withhold consent to the storage, retention, and use of the newborn’s blood sample for medical research.

EXECUTIVE SUMMARY

The California Newborn Screening Program (CNSP) screens all babies born in California for various serious, but treatable, genetic disorders. At the outset, the program tested for only one disorder, phenylketonuria (PKU). However, the program has expanded to cover over 80 different disorders. Currently, the only valid basis for objecting to the test is if the testing conflicts with the parents’ religious beliefs or practices.

Concerns have arisen about parental consent and notice regarding blood specimen collection, retention, and use. This bill makes a number of changes to the program. It requires the California Department of Public Health (CDPH) to permit the parent or legal guardian to withhold consent to allow for the storage and confidential use of the blood sample of the child for research purposes. The parent or legal guardian shall be offered the opportunity to withhold their consent in writing before or at the time the blood sample of the minor is taken. It empowers the parent or legal guardian of the child, and the child, as provided, to request CDPH destroy the blood sample, or not use it for research purposes, or both. The bill prohibits the specimen from being released to any person or entity for law enforcement purposes.

This bill is sponsored by the California Health Coalition Advocacy. It is supported by various civil liberties organizations, including the Electronic Frontier Foundation and A Voice for Choice Advocacy. It is opposed by the California Hospital Association and the California Children’s Hospital Association. The bill passed out of the Senate Health Committee on a 7 to 1 vote.

PROPOSED CHANGES TO THE LAW

Existing law:

1. Requires CDPH to establish a genetic disease unit to coordinate all CDPH programs in the area of genetic disease that will promote a statewide program of information, testing, and counseling services; and, have the responsibility of designating tests and regulations to be used in executing the California Newborn Screening Program (CNSP). (Health & Saf. Code § 125000.)
2. Requires CDPH to include in the CNSP screening for phenylketonuria, fatty acid oxidation, amino acid, organic acid disorders, congenital adrenal hyperplasia, severe combined immunodeficiency (SCID), adrenoleukodystrophy (ALD), and any other disease that is detectable in blood samples as soon as practicable, but no later than two years after the disease is adopted by the federal Recommended Uniform Screening Panel (RUSP) or state law is amended, whichever is later. (Health & Saf. Code §§ 125000, 12501.)
3. Requires CDPH to evaluate and prepare recommendations on the implementation of tests for the detection of hereditary and congenital diseases, including, but not limited to, biotinidase deficiency and cystic fibrosis. Requires CDPH to also evaluate and prepare recommendations on the availability and effectiveness of preventative follow-up interventions, including the use of specialized medically necessary dietary products. (Health & Saf. Code § 125000.)
4. Requires birth attendants to provide pregnant women, prior to the estimated delivery date, with a copy of CDPH’s informational material entitled “Important Information for Parents.” Requires perinatal licensed health facilities to provide the same to women admitted for delivery if she has not already received it and to translate or read the material in a language she understands if she cannot read it. (17 C.C.R. §§ 6504, 6504.2.)
5. Authorizes the parent or guardian of a newborn child to opt out of the CNSP if they object to a test on the ground that the test conflicts with their religious beliefs or practices. Requires parents or guardians who opt out to sign a refusal form approved by CDPH and provided by the physician or birth attendant. Requires the form to be translated or read in a language understood by the parent or guardian if they cannot read the form. (Health & Saf. Code § 125000; 17 C.C.R. § 6501.2.)
6. Requires perinatal health facilities to collect the CNSP blood spot specimen when a newborn is between 12 and 48 hours old, with certain exceptions, and send such specimen to a CNSP laboratory on the same or next business day. For infants not born in a perinatal licensed health facility, but admitted to such a facility, the facility is required to obtain a specimen within 48 hours of admission and send it to a CNSP laboratory on the same or next business day. For infants neither born nor admitted to a perinatal licensed health facility after birth, the out-of-hospital provider is required to collect the CNSP specimen when a newborn is between 12 and 48 hours old, unless a religious objection is executed, and sent to a CNSP laboratory on the same or next business day. (17 C.C.R. § 6505.)
7. Requires county registrars of births to provide a copy of the informational material described above to each person registering the birth of a newborn that occurred outside of a perinatal health facility when the newborn was not admitted to such a facility within the first 30 days of age. Requires the county registrar of birth to notify the local health officer and CDPH of this birth, and requires the local health department to make every reasonable effort to obtain CNSP specimens. Permits local health departments, with permission from CDPH, to terminate efforts to obtain the CNSP specimen after 30 days. (17 C.C.R. §§ 6505, 6507.1.)
8. Requires CDPH to provide the following forms for the administration of the CNSP: the California Newborn Screening Test Request Form (CDPH-4409) and the Notification of Registration of Birth Which Occurred Out of a Licensed Health Facility (CDPH-4460). (17 C.C.R. § 6501.5.)
9. Requires CNSP results to be available to individuals over 18 years of age or the individual’s parent or guardian. Requires results to be held as a confidential medical record, except for data compiled without reference to the identity of any individual and for research purposes, provided that the research has first been reviewed and approved by an institutional review board, as specified. Requires any disclosure of information to preserve the anonymity of the persons tested unless the person has given written consent to disclose the information. (Health & Saf. Code § 124980; 17 C.C.R. § 6502.1.)
10. Requires CDPH to charge a fee for newborn screening and follow-up services, and requires the amount of the fee to be periodically adjusted in order to meet the costs of the CNSP. (Health & Saf. Code § 125000.)

This bill:

1. Requires CDPH to permit the parent or legal guardian to withhold consent to allow for the storage and confidential use of the blood sample of the minor for research purposes by CDPH or their approved researchers. The parent or legal guardian shall be offered the opportunity to withhold their consent in writing before or at the time the blood sample of the minor is taken.
2. Prohibits a residual newborn screening specimen from being released to any person or entity for law enforcement purposes or to establish a database for forensic identification.
3. Grants a parent or legal guardian of a minor, or the minor once an adult, the right to request CDPH to destroy the blood sample of the minor collected as a newborn, or not use it for research purposes, or both, and CDPH shall comply with that request. If the person makes the request by email and provides their email address, the department shall send an email acknowledging that the department received the request. If the request is in writing, CDPH shall send a written acknowledgment that the department received the request.
4. An individual who is at least 18 years of age may request the department to destroy, not use for research purposes, or both, their blood sample that was collected, and the department shall do so. If the individual makes the request by email and provides their email address, the department shall send an email acknowledging that the department received the request. If the individual makes the request in writing, the department shall send a written acknowledgment that the department received the request.
5. Requires CDPH to prepare and provide an informational brochure regarding newborn child blood samples collected pursuant to this program that includes:
   1. a brief, plain-language explanation of, and the purpose for, the newborn child screening test and the storage, retention, and use of newborn child blood samples collected pursuant to this article, including that the samples may be shared with third parties for research purposes;
   2. a description of the benefits of both early newborn child screening and the associated research undertaken regarding preventable heritable or congenital disorders;
   3. a description of the California Biobank Program, specifically as it pertains to the Genetic Disease Screening Program, and subsequent storage, retention, and use of the newborn child’s blood sample for medical research;
   4. the parent or legal guardian’s right to refuse the test based on their religious beliefs;
   5. the parent or legal guardian’s right to withhold consent for their minor child’s blood sample to be stored and used for research purposes.
   6. the parent or legal guardian’s right to request that their minor child’s blood sample be destroyed, not used for research purposes, or both, if the parent or legal guardian has not initially withheld consent to the sample being stored and used for research purposes at the time the sample is taken, and the information necessary to make that request; and
   7. the right of an individual who is at least 18 years of age to request that their blood sample be destroyed, not used for research purposes, or both, and the information necessary to make that request.
6. Provides that the above informational brochure be confined to a single, double-sided page and presented in a separate document from the standard informational acceptance, consent, or refusal form required in Section 125004.
7. Requires CDPH to prepare a separate standard informational acceptance, consent, and refusal form that includes all of the following:
   1. a brief, plain-language explanation of, and the purpose for, the newborn child screening test and retention of newborn child blood samples collected pursuant to this article, including that the samples may be shared with third parties for research purposes;
   2. an explanation of the parent’s or legal guardian’s right to request that their minor child’s blood sample be destroyed or not used for research purposes, or both, if the parent or legal guardian has not initially withheld consent to the sample being stored and used for research purposes at the time the sample is taken, and the information necessary to make that request;
   3. a space for the parent or legal guardian of the newborn child to provide a signed and dated written acknowledgment of receipt of the informational brochure regarding the storage, retention, and use of the newborn child’s blood sample for medical research;
   4. a space for the parent or legal guardian of the newborn child to withhold consent for the use of the newborn blood sample for research purposes, but still allow for the storage of the sample;
   5. a space for the parent or legal guardian of the newborn child to withhold consent for the storage and use of the newborn blood sample for research purposes; and
   6. a space for the parent or legal guardian of the newborn child to refuse the newborn screening test on their newborn or infant for religious reasons.
8. Requires the standard form to be confined to a single page and presented in a separate document from the informational brochure required in Section 125003. A copy shall be maintained by the birth attendant or the perinatal licensed health facility in the medical record of the mother of the newborn child. In the event that emergency circumstances make it impossible to obtain the signed standard form, a note shall be placed in the medical record of the mother documenting the emergency or reason why the form could not be obtained, and the newborn child shall be administered the genetic screening test and the newborn child blood sample shall be stored and retained for medical research pursuant to Section 125000.
9. Defines “informational acceptance, consent, and refusal form” or “standard form” to mean the form described above.
10. Requires the informational brochure and the standard form to be distributed as follows:
    1. a birth attendant engaged in providing perinatal care shall provide a pregnant woman, at least four weeks prior to the estimated date of delivery, with a copy of the informational brochure and a copy of the standard form provided by CDPH;
    2. if the informational brochure or standard form has not been so provided, a perinatal licensed health facility shall provide each pregnant woman admitted for delivery with a copy of the informational brochure and a copy of the standard form; and
    3. the local registrar of births and deaths shall provide a copy of the informational brochure and a copy of the standard form to each person registering the birth of a newborn that occurred outside of a perinatal licensed health facility when the newborn was not admitted to a perinatal licensed health facility within the first 30 days after birth. The local registrar of births and deaths shall notify the local health officer and the department of each of these registrations.
11. Defines “birth attendant” as a person licensed or certified by the state to provide maternity care and to deliver pregnant women or to practice medicine. “Perinatal licensed health facility” means a health facility licensed by the state and approved to provide perinatal, delivery, newborn intensive care, newborn nursery, or pediatric services.

COMMENTS

1. Screening newborns for potential genetic disorders

The California Newborn Screening (NBS) Program is a public health program that screens all babies for many serious but treatable genetic disorders. Newborn screening began in California in 1966 and has grown to include screening for 80 different disorders, both genetic (passed down in families) and congenital (present at birth). The purpose of the program is to detect these disorders early so they can be treated from shortly after birth.

Medical professional take a blood sample from each newborn baby within the first few days of birth and carry out the screening. Currently parents can object to the screening only on religious grounds. However, all parents are authorized to thereafter contact

the program to have the blood specimen destroyed after screening.

Attendant regulations require that pregnant persons are given a copy of the informational material, entitled “Important Information for Parents,” provided by CDPH. The brochure lays out what the program is, why it is carried out, and how it is done. It also lays out what happens with the blood specimen after the testing:

What Happens to My Baby’s Blood Spots After the Newborn Screening Test is Done? California, like many other states, stores newborn screening bloodspot cards. The bloodspot cards may be used for tests to improve the screening program or to develop tests for new disorders. The bloodspots may also be used for studies about diseases in women and children. The stored bloodspot cards do not have information, such as names or addresses, that can be used to identify you or your baby. The program follows all federal and state privacy and research laws. If you want the bloodspot card destroyed after the newborn screening test is done, that is your right.

To learn more about the storage and use of leftover blood spots, or to find out how to get your baby’s bloodspot card destroyed, visit: https://www.cdph.ca.gov/Programs/CFH/DGDS/Pages/NBS/IIP.aspx

California law requires the NBS program to use or provide newborn screening specimens for department-approved studies of diseases in women and children, such as research related to identifying and preventing disease. This could be to study birth defects, chronic disease, exposure to toxins or infections.

1. Providing disclosures and notice of rights

This bill seeks to further increase parental and individual control around the program. According to the author:

Through great strides made in medical technology and science, humans can literally see the genetic building blocks that make them who they are and, in some instances, can use that information for genealogical or medical histories for families. But with great power and technology, some guardrails should be established, especially about who can access the genetic information and data. Parents and guardians should be fully informed about the process of collecting, analyzing and storing genetic information collected from newborn infants. There is no denying the importance of the work by the Department of Public Health and this screening program but Californians should have a choice in how their information is used and accessed.

This bill statutorily requires creation and dissemination of an information brochure that educates parents about the newborn screening program, the benefits of the program, and the parents’ rights with regard to the program. This includes not only the right to refuse the test for religious reasons and the right to ask for the destruction of the specimen collected, but also the right to withhold consent to allow for the storage and confidential use of the blood sample for research purposes by CDPH. The bill establishes this right and specifically requires that the parent be offered the opportunity to withhold consent in writing before or at the time the blood sample of the baby is taken.

The bill also requires a standard form to be created. The form must again inform parents about the program and what is done with the blood samples, and include a description of the parents’ rights. The form must also have spaces for the parent to provide a written acknowledgment of receipt of the informational brochure; for the parent to withhold consent for the use and/or storage of the specimen; and to refuse the screening test for religious reasons.

The bill also imposes a strong protection for specimens collected. It explicitly prohibits releasing a residual newborn screening specimen to any person or entity for law enforcement purposes or to establish a database for forensic identification.

The law in part is driven by articles sounding the alarm as to potential privacy intrusions into the biobanks holding these specimens. One began:

It’s a little-known fact: California stores newborn blood spot (NBS) samples from every child born in the state. Parents don’t have to consent, so many don’t even know.

DNA from the samples may be used for potentially life-saving research, but in light of the Golden State Killer case and evolving DNA technology, there are new questions about what else the DNA is being used for and why the state does not ask for consent before indefinitely storing a child’s DNA.^[1]

The Electronic Frontier Foundation writes in support:

Newborn screening is standard in California and across the country and is considered one of the most successful public health programs. The increasing use of the database for law enforcement investigations, however, threatens to undermine the trust everyone can place in this important database. S.B. 625 would ensure that the state places commonsense privacy guardrails on this information, including blocking its use from law enforcement and setting reasonable data maintenance and consent rules around the

information.

California takes pride in leading the country on protecting privacy, enshrining the right to privacy in the state constitution by ballot initiative in 1972. Yet California parents are not informed about the blood samples taken from every infant and stored indefinitely in the state’s database.2 No one is asked for their consent to participate in medical research that may use that database. No one is asked if it is alright when researchers work to map the genomes from these samples. No one can ask for them to be destroyed. S.B. 625 would establish rules to give people this kind of control over these samples—collected for the best of intentions, but increasingly reappropriated for uses that are far outside the original intent.

California Health Coalition Advocacy, the sponsor of the bill, writes that the bill is “needed to provide important information about newborn screening to parents and guardians and protect the genetic privacy of children born in California.”

Writing in opposition, the California Hospital Association asserts:

Current law requires health care providers to give all pregnant patients a one-page handout from CDPH that explains the newborn screening program. The handout informs patients about how to opt out of having their baby’s blood spot tested for religious reasons and how to have their baby’s blood spot destroyed after testing so it is not used for research.

As currently written, SB 625 would require every Californian giving birth (500,000 per year) to fill out a form with three choices (whether or not to test/store/use blood for research) and four different signature lines (acknowledgement of receipt, test, store, research). The bill would create a huge administrative challenge for moms, obstetricians, hospitals, and CDPH to obtain, store, and transmit these 500,000 forms and, most importantly, match them to the correct baby and blood spot card. It is inevitable that mistakes will be made (by the mother, doctor, hospital, or CDPH), and some babies will fall through the cracks and not get tested — with potentially devastating consequences.

Stanford Hospital writes in opposition:

California enjoys a robust newborn screening program that allows for early detection of numerous rare and serious conditions. With this information in hand, pediatricians and others are in a position to promptly treat these conditions before more serious health issues arise. Additionally, the research use of these samples and related data is essential to develop better diagnostic tests for congenital and heritable diseases as well as illnesses from environmental exposure.

Stanford and others in the hospital community are concerned the bill could compromise California’s newborn screening program by making it an opt-in, as opposed to the current opt-out option. Additionally, by requiring the new interim step of obtaining written consent, further administrative time and resources will be needed for proper documentation.

SUPPORT

California Health Coalition Advocacy (sponsor)
A Voice for Choice Advocacy

ACLU California Action

American Nurses Association - California

California Health Coalition Advocacy

Central Coast Health Coalition

Educate. Advocate.

Electronic Frontier Foundation

National Association of Pediatric Nurse Practitioners (NAPNAP)

Physicians & Patients Reclaiming Medicine

OPPOSITION

California Children’s Hospital Association

California Hospital Association

Children’s Specialty Care Coalition

Children’s Hospital of Orange County

Lucile Packard Children’s Hospital – Stanford Children’s Health

Stanford Health Care

RELATED LEGISLATION

Pending Legislation: SB 570 (Becker, 2023) prevents CDPH from prohibiting a laboratory, as specified, from offering all noninvasive prenatal tests, as ordered by a prenatal care provider, or otherwise limit the number of tests that the laboratory may provide to a pregnant person who has an order from a prenatal care provider. SB 570 is currently in the Senate Appropriations Committee.

Prior Legislation:

SB 41 (Umberg, Ch. 596, Stats. 2021) established the Genetic Information Privacy Act, providing additional protections for genetic data by regulating the collection, use, maintenance, and disclosure of such data.

AB 556 (Maienschein, Ch. 170, Stats. 2021) established a private cause of action for damages against a person who misuses sperm, ova, or embryos in violation of Section 367g of the Penal Code. AB 556 provides for damages for a prevailing plaintiff, including actual or statutory damages.

AB 170 (Gatto, 2015) was substantially similar to this bill. AB 170 died in Senate Health.

PRIOR VOTES:

Senate Health Committee (Ayes 7, Noes 1) Do pass as amended.

Senate Health Committee (Ayes 11, Noes 0) Reconsideration granted.

Senate Health Committee (Ayes 6, Noes 1) Failed passage in Committee.

**************

1. Julie Watts, CA Still Storing Newborn DNA Without Consent. Golden State Killer Case Raising New Concerns (Dec. 7, 2020) CBS Sacramento, https://www.cbsnews.com/sacramento/news/newborn-dna-california-consent-gsk-killer/ [as of Apr. 21, 2023]. ↑

SENATE COMMITTEE ON HEALTH

Senator Dr. Susan Talamantes Eggman, Chair

BILL NO: SB 625

SUBJECT: Newborn screening: genetic diseases: blood samples collected

SUMMARY:

Requires the California Department of Public Health (CDPH) to provide information about the California Newborn Screening Program and to obtain a signed form from a newborn’s parent or guardian regarding the collection of blood samples, as specified. Prohibits any residual newborn screening specimen from being released to any person or entity for law enforcement purposes or to establish a database for forensic identification. Allows parents or guardians, and individuals at least 18 years of age, to request that CDPH destroy the blood sample, not use it for research purposes, or both, and requires CDPH to comply with the request.

Existing law:

1. Requires CDPH to establish a genetic disease unit to coordinate all CDPH programs in the area of genetic disease that will promote a statewide program of information, testing, and counseling services; and, have the responsibility of designating tests and regulations to be used in executing the California Newborn Screening Program (CNSP). [HSC §125000]
2. Requires CDPH to include in the CNSP screening for phenylketonuria, fatty acid oxidation, amino acid, organic acid disorders, congenital adrenal hyperplasia, severe combined immunodeficiency (SCID), adrenoleukodystrophy (ALD), and any other disease that is detectable in blood samples as soon as practicable, but no later than two years after the disease is adopted by the federal Recommended Uniform Screening Panel (RUSP) or state law is amended, whichever is later. [HSC §125000, 12501]
3. Requires CDPH to evaluate and prepare recommendations on the implementation of tests for the detection of hereditary and congenital diseases, including, but not limited to, biotinidase deficiency and cystic fibrosis. Requires CDPH to also evaluate and prepare recommendations on the availability and effectiveness of preventative follow-up interventions, including the use of specialized medically necessary dietary products. [HSC §125000]
4. Requires birth attendants to provide pregnant women, prior to the estimated delivery date, with a copy of CDPH’s informational material entitled “Important Information for Parents.” Requires perinatal licensed health facilities to provide the same to women admitted for delivery if she has not already received it and to translate or read the material in a language she understands if she cannot read it. [17 CCR §6504, 6504.2]
5. Authorizes the parent or guardian of a newborn child to opt out of the CNSP if they object to a test on the ground that the test conflicts with their religious beliefs or practices. Requires parents or guardians who opt out to sign a refusal form approved by CDPH and provided by the physician or birth attendant. Requires the form to be translated or read in a language understood by the parent or guardian if they cannot read the form. [HSC §125000; 17 CCR §6501.2]
6. Requires perinatal health facilities to collect the CNSP blood spot specimen when a newborn is between 12 and 48 hours old, with certain exceptions, and send such specimen to a CNSP laboratory on the same or next business day. For infants not born in a perinatal licensed health facility, but admitted to such a facility, the facility is required to obtain a specimen within 48 hours of admission and send it to a CNSP laboratory on the same or next business day. For infants neither born nor admitted to a perinatal licensed health facility after birth, the out-of-hospital provider is required to collect the CNSP specimen when a newborn is between 12 and 48 hours old, unless a religious objection is executed, and sent to a CNSP laboratory on the same or next business day. [17 CCR §6505]
7. Requires county registrars of births to provide a copy of the informational material described in 4) above to each person registering the birth of a newborn that occurred outside of a perinatal health facility when the newborn was not admitted to such a facility within the first 30 days of age. Requires the county registrar of birth to notify the local health officer and CDPH of this birth, and requires the local health department to make every reasonable effort to obtain CNSP specimens. Permits local health departments, with permission from CDPH, to terminate efforts to obtain the CNSP specimen after 30 days. [17 CCR §6505, 6507.1]
8. Requires CDPH to provide the following forms for the administration of the CNSP: the California Newborn Screening Test Request Form (CDPH-4409) and the Notification of Registration of Birth Which Occurred Out of a Licensed Health Facility (CDPH-4460). [17 CCR §6501.5]
9. Requires CNSP results to be available to individuals over 18 years of age or the individual’s parent or guardian. Requires results to be held as a confidential medical record, except for data compiled without reference to the identity of any individual and for research purposes, provided that the research has first been reviewed and approved by an institutional review board, as specified. Requires any disclosure of information to preserve the anonymity of the persons tested unless the person has given written consent to disclose the information. [HSC §124980; 17 CCR §6502.1]
10. Requires CDPH to charge a fee for newborn screening and follow-up services, and requires the amount of the fee to be periodically adjusted in order to meet the costs of the CNSP. [HSC §125000]

This bill:

1. Requires CDPH to require the written consent of a parent or legal guardian to allow for the storage and confidential use of a newborn’s blood sample for research purposes by CDPH or its approved researchers. Requires consent to be given before or at the time the blood sample is taken.
2. Prohibits a residual newborn screening specimen from being released to any person or entity for law enforcement purposes or to establish a database for forensic identification.
3. Authorizes a parent or legal guardian of a minor, or an individual who is at least 18 years of age, to request that CDPH destroy the blood sample collected, or not use it for research purposes, or both. Requires CDPH to comply with that request. Requires CDPH to send an email acknowledging that it received the request if the person making the request provides their email address.
4. Requires CDPH to prepare and provide a single document regarding newborn child blood samples collected to include all of the following information:
   1. A brief, plain-language explanation of, and the purpose for, the CNSP test and the storage, retention, and use of newborn child blood samples collected, including that the samples may be shared with third parties for research purposes;
   2. A description of the benefits of both early newborn child screening and the associated research undertaken regarding preventable heritable or congenital disorders;
   3. A description of the California Biobank Program (CBP), specifically as it pertains to the Genetic Disease Screening Program (GDSP) (which includes CNSP), and subsequent storage, retention, and use of the newborn child’s blood sample for medical research;
   4. The parent or legal guardian’s right to refuse the test based on their religious beliefs;
   5. The parent or legal guardian’s right to withhold consent for their minor child’s blood sample to be stored and used for research purposes;
   6. The parent or legal guardian’s right to request that their minor child’s blood sample be destroyed, not used for research purposes, or both, if the parent or legal guardian has initially consented to the sample being stored and used for research purposes at the time the sample is taken, and the information necessary to make that request; and,
   7. The right of an individual who is at least 18 years of age to request that their blood sample be destroyed, not used for research purposes, or both, and the information necessary to make that request.
5. Requires CDPH to prepare a separate standard informational acceptance, consent, and refusal form that includes all of the following:
   1. A brief, plain-language explanation of, and the purpose for, the CNSP test and retention of newborn child blood samples collected pursuant to this article, including that the samples may be shared with third parties for research purposes;
   2. An explanation of the parent’s or legal guardian’s right to request that their minor child’s blood sample be destroyed or not used for research purposes, or both, if the parent or legal guardian has initially consented to the sample being stored and used for research purposes at the time the sample is taken, and the information necessary to make that request;
   3. A space for the parent or legal guardian of the newborn child to provide a signed and dated written acknowledgment of receipt of informational materials regarding the storage, retention, and use of the newborn child’s blood sample for medical research;
   4. A space for the parent or legal guardian of the newborn child to provide signed consent for the storage of the newborn blood sample;
   5. A space for the parent or legal guardian of the newborn child to provide signed consent for the storage and use of the newborn blood sample for research purposes; and,
   6. A space for the parent or legal guardian of the newborn child to refuse the newborn screening test on their newborn or infant for religious reasons.
6. Requires a copy of the signed standard form to be maintained in the medical record of the mother of the newborn child. Requires a note to be placed in the medical record of the mother, in the event that emergency circumstances make it impossible to obtain the signed form, documenting the emergency or reason why the form could not be obtained.
7. Requires CDPH to provide a parent or legal guardian with the informational materials described in 4) above and the standard form described in 5) above regarding the retention of newborn child blood samples.
8. Requires a birth attendant engaged in providing perinatal care to provide a pregnant woman, at least four weeks prior to the estimated date of delivery, with a copy of the informational materials and the standard form. Requires a perinatal licensed health facility, if the informational materials or standard form has not been provided, to provide each pregnant woman admitted for delivery with a copy. Requires the local registrar of births and deaths to provide a copy of the informational material and the standard form to each person registering the birth of a newborn that occurred outside of a perinatal licensed health facility when the newborn was not admitted to a perinatal licensed health facility within the first 30 days after birth. Requires local registrars to notify the local health officer and CDPH of each of these registrations.

FISCAL EFFECT:

This bill has not been analyzed by a fiscal committee.

COMMENTS:

1. Author’s statement. According to the author, through great strides made in medical technology and science, humans can literally see the genetic building blocks that make them who they are and, in some instances, can use that information for genealogical or medical histories for families. But with great power and technology, some guardrails should be established, especially about who can access genetic information and data. Parents and guardians should be fully informed about the process of collecting, analyzing and storing genetic information collected from newborn infants. There is no denying the importance of the work by CDPH and this screening program, but Californians should have a choice in how their information is used and accessed.
2. CNSP. In 1966, California began its CNSP with the testing of phenylketonuria. Since its creation, the CNSP has been expanded several times as new discoveries are made and tests developed, and now screens for more than 80 disorders. Diseases have been continually added through regulation and legislation.

Prior to leaving the hospital, a few drops of blood from a newborn’s heel are collected on filter paper. According to CDPH, the newborn screening test should be done when the baby is at least 12 hours of age but before six days of age. The ideal time to do the test is when the baby is between 24 and 48 hours of age. Blood collected before 12 hours of age is not always reliable for some metabolic diseases. Samples are sent to regional labs that contracts with CDPH for testing, and results are sent to CDPH for data collection and quality control. It takes two to three weeks for the doctor to receive the written results, and parents obtain the test results from the baby’s doctor. If the baby needs more tests, parents are notified a few days after discharge from the hospital. Positive test results are immediately telephoned to a follow-up coordinator at one of the Newborn Screening Area Service Centers throughout the state. The coordinator contacts the newborn’s physician to arrange for repeat testing. If repeat testing determines that the baby has a disorder, the coordinator will supply the latest clinical information on diagnosis and treatment and assist with referrals to special care.

Approximately 500,000 newborns are screened for over 80 genetic disorders each year. According to CDPH, about one out of every 600 babies tested will have a rare, but treatable, genetic disorder.

The current pamphlet “Screening Your Newborn: Important Information for Parents about Newborn Blood Spot Screening” explains the CNSP test, how it is done, how to get results, what happens to the blood spots after the screen, and the parents’ right to have the specimen card destroyed and how to do so or how to find additional information about CNSP. This pamphlet contains most, but not all of the information required by this bill and is available in English on one side with Spanish, Armenian, Cambodian, Chinese, Farsi, Hmong, Korean, Laotian, Russian, Tagalog, or Vietnamese on the other. Much of this bill codifies existing regulations or practices by CDPH in this process. However, the requirements of this bill do place more focus on the parents’ rights, including the addition of a form that acknowledges receipt of information and opportunity to consent to the use and storage of the specimens as well as opt out of CNSP entirely on religious grounds.

1. California Biobank Program. The CBP, a large and diverse biobank maintained by CDPH, includes over 20 million newborn leftover blood spots. These samples were collected for testing by CNSP, which are linked to GDSP data and California Birth Defects Monitoring Program (CBDMP) registry data. The samples and data are also linked to the State Registrar of Vital Statistics databases that include fetal death, live birth, and death data.

The CBP is mandated to make specimens and data available to researchers for the following approved purposes: identifying risk factors for children’s and women’s diseases; developing and evaluating screening tests (including updating the CNSP test); developing and evaluating screening strategies; and, developing and evaluating treatment. According to CDPH, for the CNSP program, the data available to researchers includes patient demographic data, analytic values for the screening tests as performed, determination of screen positive or screen negative status, and resolution of positive results as true or false positive. Newborn screening data are available from 1982 on. Researchers are not provided with any information that would allow them to identify the individual whose blood spots they are given. All research projects are required to be approved by the State Committee for the Protection of Human Subjects to evaluate the design, ethics, and confidentiality of the study. Only after this and potentially other institutional review boards have approved the project can the researchers apply to use CNSP blood spots, which is then subject to the approval of CDPH. Researchers are charged a processing fee for limited use of the spots and they must sign a use agreement that prohibits them from using the blood spots for any purpose except the approved research project. Once a project is complete, any remaining blood must be destroyed.

While the stored CNSP blood spots do have genetic material, according to CDPH most of the time the testing does not involve DNA. A small number of babies need an extra test that does involve DNA for a specific condition; however, the DNA sample is then destroyed. The CBP stores the dried blood spots but does not store information about an individual’s DNA. The state does not have a DNA database from the specimens collected. After CNSP testing has been completed, what is left of the paper with the blood spots is stored in a freezer

in a secure storage facility. The filter paper cards are labeled with a unique bar code with no other identifying information on them. The information to match the bar code on the card to an individual’s name is secured in a different site.

1. Recent concerns regarding genetic privacy. In April of 2018, police arrested Joseph James DeAngelo, alleging that he was the “Golden State Killer” suspected of at least 13 murders, 50 rapes, and 100 burglaries in California between 1974 and 1986. The break in the case arose from law enforcement’s use of publicly available genetic data supplied to the freely accessible genealogical database GEDMatch, to which users upload their genetic data received from direct-to-consumer genetic tests in order to identify familial matches among other users. Using the killer’s DNA profile collected from a rape kit, investigators submitted the killer’s genetic information to GEDMatch and identified ten to twenty relatives who shared the killer’s great-great-great grandparents. Investigators then reconstructed a family tree using this information, ultimately identifying two prime suspects, one of which was exonerated by a family member’s submitted genetic data; the other, DeAngelo, was a genetic match with the killer. Since that time, various articles, including a local news story and an academic article, have connected what law enforcement was able to do in the Golden State Killer case and the potential use of stored CNSP blood spot specimens.

Last year, after several attempts, the Legislature passed and the Governor signed SB 41 (Umberg, Chapter 596, Statutes of 2021), the Genetic Information Privacy Act which requires direct-to-consumer genetic testing companies to provide consumers with information regarding the company’s policies and procedures for the collection, use, and disclosure of genetic data and to obtain a consumer’s express consent for collection, use, or disclosure of a consumer’s genetic data. CNSP was expressly exempted from its provisions. There are several factors that distinguish CNSP from a direct-to-consumer genetic testing company, such as: a) CNSP serves a public health purpose rather than a private commercial purpose; b) CNSP specimens are not used to create a DNA database; c) participation in CNSP testing is mandatory with a limited exception; and, d) the use of CNSP specimens is limited to specific research purposes, some of which are to improve the CNSP tests themselves. Nonetheless, clearer consumer information about the use of the CNSP specimens and their rights may be warranted at a time when there are real concerns as to how genetic material may be used.

1. Double referral. This bill is double referred. Should it pass out of this committee, it will be referred to the Senate Committee on Judiciary.
2. Prior legislation. SB 41 (Umberg, Chapter 596, Statutes of 2021) established the Genetic Information Privacy Act which requires direct-to-consumer genetic testing companies to provide consumers with information regarding the company’s policies and procedures for the collection, use, and disclosure of genetic data and to obtain a consumer’s express consent for collection, use, or disclosure of a consumer’s genetic data. CNSP was specifically exempted.

SB 980 (Umberg of 2020) was substantively similar to SB 41. SB 980 was vetoed by the Governor who found the broad language of the bill could interfere with laboratories’ mandatory requirement to report COVID-19 test outcomes to local public health departments who report that information to CDPH.

AB 170 (Gatto of 2015) was substantively similar to this bill. AB 170 was held in this committee.

AB 1559 (Pan, Chapter 565, Statutes of 2014), expands CDPH statewide screening of newborns to include screening for adrenoleukodystrophy (ALD) as soon the federal Recommended Uniform Screening Panel approve the addition of ALD.

SB 222 (Padilla of 2014) would have enacted the Genetic Information Privacy Act, which would have required an individual’s written authorization prior to the collection of genetic information for testing, analysis, retention, or disclosure. SB 222 was held in the Senate Appropriations Committee.

SB 1267 (Padilla of 2012) would have required an individual’s written authorization prior to the collection of genetic information for testing, analysis, retention or disclosure. Would have required destruction of the genetic information upon completion of the purpose authorization was obtained. SB 1267 was held in the Senate Appropriations Committee.

AB 395 (Pan, Chapter 461, Statutes of 201), expands statewide screening of newborns to include screening for severe combined immunodeficiency.

SB 1103 (Committee on Budget and Fiscal Review, Chapter 228, Statutes of 2004), expands statewide screening of newborns to include tandem mass spectrometry screening for fatty acid oxidation, amino acid, organic acid disorders, and congenital adrenal hyperplasia.

SB 537 (Greene, Chapter 1011, Statutes of 1998), required CDPH to establish a program to provide extended newborn genetic screening services for persons who elect to have, and pay for, the additional screening.

1. Support. Sponsors California Health Coalition Advocacy write that each year in California, hundreds of thousands of newborn screenings are performed to detect genetic conditions. California indefinitely stores the residual blood samples and makes them available to third party researchers without the consent of parents and to law enforcement in the case of a court order. These blood samples contain a wealth of personal genetic information of children and parents should have the ability to consent to the storage of the sample and the use of the sample for research purposes. They state that this bill is needed to provide important information about newborn screening to parents and guardians and protect the genetic privacy of children born in California. The Electronic Frontier Foundation writes that newborn screening is standard in California and across the country and is considered one of the most successful public health programs. The increasing use of the database for law enforcement investigations, however, threatens to undermine the trust everyone can place in this important database. This would ensure that the state places commonsense privacy guardrails on this information, including blocking its use from law enforcement and setting reasonable data maintenance and consent rules around the information. A number of individuals write in support expressing concerns that genetic material should not be used without informed consent.
2. Opposition. The California Hospital Association writes in opposition stating that this would change the research component of the newborn screening program from opt out to opt in. Pregnant patients in labor or right after giving birth would be forced to make hurried decisions and fill out paperwork about storing blood spots and using them for research. It would also create an expensive administrative challenge for both hospitals and CDPH, as they would have to obtain, store, transmit, and coordinate several forms for each of the 500,000 babies born in California annually. The requirements in this bill would not give patients any new rights and would not improve babies’ health outcomes. On the contrary, the need for additional forms would increase the possibility of a baby inadvertently not being tested, with potentially devastating consequences. The bill would also jeopardize important research about infant health conditions. They also state that this bill would undermine California’s nationally recognized newborn screening program, which tests all newborn babies for life-threatening and seriously disabling diseases. If identified early, many of these conditions can be treated before they cause serious health problems. If they are not detected early, many will cause permanent and irreversible damage to the infant by the time symptoms appear. Early detection and treatment save and improve children’s lives, and reduce medical costs by eliminating or mitigating the devastating consequences of these rare and treatable diseases. The blood spots are securely stored and maintained by CDPH and may be used by bona fide researchers with CDPH approval.
3. Policy Comments.
4. Opt out versus opt in consent. The CBP has over 30 years of stored CNSP blood spots where express consent to use was not obtained. Should this bill pass with such a requirement, there could be question as to how the currently stored specimens may be used. CDPH does allow parents, guardians, and individuals over 18 to request that their or their child’s specimen be destroyed or not used for research purposes at any time, even years after the specimen was collected. As such, it is likely less disruptive to allow parents to affirmatively opt out of having their baby’s specimen stored or used for research purposes at the same time they are acknowledging receipt of information about the program, rather than opting in to allowing its storage or use. This will assure that parents have the opportunity to express their wishes and preserve the existing practice of allowing parents or the affected individual to later request that their specimen be destroyed or not used, without calling into question the current CBP holdings.
5. Minimizing the burden on providers regarding required forms. The opposition has expressed concern about maintaining additional forms in patients’ files and whether the requirement to have those forms may interfere with newborns participating in CNSP. Although more careful consideration of how parents are informed as to the use of their babies’ blood spots after the screening is complete may be warranted, it may also be worth considering whether there is a less burdensome way of documenting that parents have received the information and whether they consent to the storage and use of their child’s specimen. The author should consider discussing with the opposition and CDPH as to whether the existing CNSP test order form can be modified to include such information or whether there is a way that CDPH can maintain an online form that parents would sign and submit that would centralize the records maintenance.
6. Law Enforcement Prohibition. Currently, law enforcement can only obtain access to the CNSP specimens with a court order signed by a judge. According to CDPH, it has only released specimens to facilitate identification of unidentified human remains after receiving a court order. This has occurred 11 times in the last ten years. The author may want to consider whether an exception to the law enforcement prohibition in this bill is warranted.
7. Amendments. The author and the Committee have agreed to amendments that would address policy comment a) above and would make minor technical amendments to: a) clarify how CDPH should respond to requests from parents and individuals regarding the use and storage of blood samples; b) clarify that the information provided to parents is to be a single sheet brochure that may be double-sided; c) clarify who is to store the signed form in the medical record; and, d) remove language that would require CDPH to directly provide the informational brochure and form to parents.

SUPPORT AND OPPOSITION:

Support: California Health Coalition Advocacy (sponsor)

A Voice for Choice Advocacy (AVFCA)

Educate. Advocate.

Electronic Frontier Foundation

National Association of Pediatric Nurse Practitioners

Oakland Privacy

32 Individuals

Oppose: California Children’s Hospital Association

California Hospital Association

Stanford Hospital

-- END --

SENATE COMMITTEE ON HEALTH

Senator Dr. Susan Talamantes Eggman, Chair

BILL NO: SB 625

SUBJECT: Newborn screening: genetic diseases: blood samples collected

SUMMARY:

Requires the California Department of Public Health (CDPH) to provide information about the California Newborn Screening Program and to obtain a signed form from a newborn’s parent or guardian regarding the collection of blood samples, as specified. Prohibits any residual newborn screening specimen from being released to any person or entity for law enforcement purposes or to establish a database for forensic identification. Allows parents or guardians, and individuals at least 18 years of age, to request that CDPH destroy the blood sample, not use it for research purposes, or both, and requires CDPH to comply with the request.

Existing law:

1. Requires CDPH to establish a genetic disease unit to coordinate all CDPH programs in the area of genetic disease that will promote a statewide program of information, testing, and counseling services; and, have the responsibility of designating tests and regulations to be used in executing the California Newborn Screening Program (CNSP). [HSC §125000]
2. Requires CDPH to include in the CNSP screening for phenylketonuria, fatty acid oxidation, amino acid, organic acid disorders, congenital adrenal hyperplasia, severe combined immunodeficiency (SCID), adrenoleukodystrophy (ALD), and any other disease that is detectable in blood samples as soon as practicable, but no later than two years after the disease is adopted by the federal Recommended Uniform Screening Panel (RUSP) or state law is amended, whichever is later. [HSC §125000, 12501]
3. Requires CDPH to evaluate and prepare recommendations on the implementation of tests for the detection of hereditary and congenital diseases, including, but not limited to, biotinidase deficiency and cystic fibrosis. Requires CDPH to also evaluate and prepare recommendations on the availability and effectiveness of preventative follow-up interventions, including the use of specialized medically necessary dietary products. [HSC §125000]
4. Requires birth attendants to provide pregnant women, prior to the estimated delivery date, with a copy of CDPH’s informational material entitled “Important Information for Parents.” Requires perinatal licensed health facilities to provide the same to women admitted for delivery if she has not already received it and to translate or read the material in a language she understands if she cannot read it. [17 CCR §6504, 6504.2]
5. Authorizes the parent or guardian of a newborn child to opt out of the CNSP if they object to a test on the ground that the test conflicts with their religious beliefs or practices. Requires parents or guardians who opt out to sign a refusal form approved by CDPH and provided by the physician or birth attendant. Requires the form to be translated or read in a language understood by the parent or guardian if they cannot read the form. [HSC §125000; 17 CCR §6501.2]
6. Requires perinatal health facilities to collect the CNSP blood spot specimen when a newborn is between 12 and 48 hours old, with certain exceptions, and send such specimen to a CNSP laboratory on the same or next business day. For infants not born in a perinatal licensed health facility, but admitted to such a facility, the facility is required to obtain a specimen within 48 hours of admission and send it to a CNSP laboratory on the same or next business day. For infants neither born nor admitted to a perinatal licensed health facility after birth, the out-of-hospital provider is required to collect the CNSP specimen when a newborn is between 12 and 48 hours old, unless a religious objection is executed, and sent to a CNSP laboratory on the same or next business day. [17 CCR §6505]
7. Requires county registrars of births to provide a copy of the informational material described in 4) above to each person registering the birth of a newborn that occurred outside of a perinatal health facility when the newborn was not admitted to such a facility within the first 30 days of age. Requires the county registrar of birth to notify the local health officer and CDPH of this birth, and requires the local health department to make every reasonable effort to obtain CNSP specimens. Permits local health departments, with permission from CDPH, to terminate efforts to obtain the CNSP specimen after 30 days. [17 CCR §6505, 6507.1]
8. Requires CDPH to provide the following forms for the administration of the CNSP: the California Newborn Screening Test Request Form (CDPH-4409) and the Notification of Registration of Birth Which Occurred Out of a Licensed Health Facility (CDPH-4460). [17 CCR §6501.5]
9. Requires CNSP results to be available to individuals over 18 years of age or the individual’s parent or guardian. Requires results to be held as a confidential medical record, except for data compiled without reference to the identity of any individual and for research purposes, provided that the research has first been reviewed and approved by an institutional review board, as specified. Requires any disclosure of information to preserve the anonymity of the persons tested unless the person has given written consent to disclose the information. [HSC §124980; 17 CCR §6502.1]
10. Requires CDPH to charge a fee for newborn screening and follow-up services, and requires the amount of the fee to be periodically adjusted in order to meet the costs of the CNSP. [HSC §125000]

This bill:

1. Requires CDPH to require the written consent of a parent or legal guardian to allow for the storage and confidential use of a newborn’s blood sample for research purposes by CDPH or its approved researchers. Requires consent to be given before or at the time the blood sample is taken.
2. Prohibits a residual newborn screening specimen from being released to any person or entity for law enforcement purposes or to establish a database for forensic identification.
3. Authorizes a parent or legal guardian of a minor, or an individual who is at least 18 years of age, to request that CDPH destroy the blood sample collected, or not use it for research purposes, or both. Requires CDPH to comply with that request. Requires CDPH to send an email acknowledging that it received the request if the person making the request provides their email address.
4. Requires CDPH to prepare and provide a single document regarding newborn child blood samples collected to include all of the following information:
   1. A brief, plain-language explanation of, and the purpose for, the CNSP test and the storage, retention, and use of newborn child blood samples collected, including that the samples may be shared with third parties for research purposes;
   2. A description of the benefits of both early newborn child screening and the associated research undertaken regarding preventable heritable or congenital disorders;
   3. A description of the California Biobank Program (CBP), specifically as it pertains to the Genetic Disease Screening Program (GDSP) (which includes CNSP), and subsequent storage, retention, and use of the newborn child’s blood sample for medical research;
   4. The parent or legal guardian’s right to refuse the test based on their religious beliefs;
   5. The parent or legal guardian’s right to withhold consent for their minor child’s blood sample to be stored and used for research purposes;
   6. The parent or legal guardian’s right to request that their minor child’s blood sample be destroyed, not used for research purposes, or both, if the parent or legal guardian has initially consented to the sample being stored and used for research purposes at the time the sample is taken, and the information necessary to make that request; and,
   7. The right of an individual who is at least 18 years of age to request that their blood sample be destroyed, not used for research purposes, or both, and the information necessary to make that request.
5. Requires CDPH to prepare a separate standard informational acceptance, consent, and refusal form that includes all of the following:
   1. A brief, plain-language explanation of, and the purpose for, the CNSP test and retention of newborn child blood samples collected pursuant to this article, including that the samples may be shared with third parties for research purposes;
   2. An explanation of the parent’s or legal guardian’s right to request that their minor child’s blood sample be destroyed or not used for research purposes, or both, if the parent or legal guardian has initially consented to the sample being stored and used for research purposes at the time the sample is taken, and the information necessary to make that request;
   3. A space for the parent or legal guardian of the newborn child to provide a signed and dated written acknowledgment of receipt of informational materials regarding the storage, retention, and use of the newborn child’s blood sample for medical research;
   4. A space for the parent or legal guardian of the newborn child to provide signed consent for the storage of the newborn blood sample;
   5. A space for the parent or legal guardian of the newborn child to provide signed consent for the storage and use of the newborn blood sample for research purposes; and,
   6. A space for the parent or legal guardian of the newborn child to refuse the newborn screening test on their newborn or infant for religious reasons.
6. Requires a copy of the signed standard form to be maintained in the medical record of the mother of the newborn child. Requires a note to be placed in the medical record of the mother, in the event that emergency circumstances make it impossible to obtain the signed form, documenting the emergency or reason why the form could not be obtained.
7. Requires CDPH to provide a parent or legal guardian with the informational materials described in 4) above and the standard form described in 5) above regarding the retention of newborn child blood samples.
8. Requires a birth attendant engaged in providing perinatal care to provide a pregnant woman, at least four weeks prior to the estimated date of delivery, with a copy of the informational materials and the standard form. Requires a perinatal licensed health facility, if the informational materials or standard form has not been provided, to provide each pregnant woman admitted for delivery with a copy. Requires the local registrar of births and deaths to provide a copy of the informational material and the standard form to each person registering the birth of a newborn that occurred outside of a perinatal licensed health facility when the newborn was not admitted to a perinatal licensed health facility within the first 30 days after birth. Requires local registrars to notify the local health officer and CDPH of each of these registrations.

FISCAL EFFECT:

This bill has not been analyzed by a fiscal committee.

COMMENTS:

1. Author’s statement. According to the author, through great strides made in medical technology and science, humans can literally see the genetic building blocks that make them who they are and, in some instances, can use that information for genealogical or medical histories for families. But with great power and technology, some guardrails should be established, especially about who can access genetic information and data. Parents and guardians should be fully informed about the process of collecting, analyzing and storing genetic information collected from newborn infants. There is no denying the importance of the work by CDPH and this screening program, but Californians should have a choice in how their information is used and accessed.
2. CNSP. In 1966, California began its CNSP with the testing of phenylketonuria. Since its creation, the CNSP has been expanded several times as new discoveries are made and tests developed, and now screens for more than 80 disorders. Diseases have been continually added through regulation and legislation.

Prior to leaving the hospital, a few drops of blood from a newborn’s heel are collected on filter paper. According to CDPH, the newborn screening test should be done when the baby is at least 12 hours of age but before six days of age. The ideal time to do the test is when the baby is between 24 and 48 hours of age. Blood collected before 12 hours of age is not always reliable for some metabolic diseases. Samples are sent to regional labs that contracts with CDPH for testing, and results are sent to CDPH for data collection and quality control. It takes two to three weeks for the doctor to receive the written results, and parents obtain the test results from the baby’s doctor. If the baby needs more tests, parents are notified a few days after discharge from the hospital. Positive test results are immediately telephoned to a follow-up coordinator at one of the Newborn Screening Area Service Centers throughout the state. The coordinator contacts the newborn’s physician to arrange for repeat testing. If repeat testing determines that the baby has a disorder, the coordinator will supply the latest clinical information on diagnosis and treatment and assist with referrals to special care.

Approximately 500,000 newborns are screened for over 80 genetic disorders each year. According to CDPH, about one out of every 600 babies tested will have a rare, but treatable, genetic disorder.

The current pamphlet “Screening Your Newborn: Important Information for Parents about Newborn Blood Spot Screening” explains the CNSP test, how it is done, how to get results, what happens to the blood spots after the screen, and the parents’ right to have the specimen card destroyed and how to do so or how to find additional information about CNSP. This pamphlet contains most, but not all of the information required by this bill and is available in English on one side with Spanish, Armenian, Cambodian, Chinese, Farsi, Hmong, Korean, Laotian, Russian, Tagalog, or Vietnamese on the other. Much of this bill codifies existing regulations or practices by CDPH in this process. However, the requirements of this bill do place more focus on the parents’ rights, including the addition of a form that acknowledges receipt of information and opportunity to consent to the use and storage of the specimens as well as opt out of CNSP entirely on religious grounds.

1. California Biobank Program. The CBP, a large and diverse biobank maintained by CDPH, includes over 20 million newborn leftover blood spots. These samples were collected for testing by CNSP, which are linked to GDSP data and California Birth Defects Monitoring Program (CBDMP) registry data. The samples and data are also linked to the State Registrar of Vital Statistics databases that include fetal death, live birth, and death data.

The CBP is mandated to make specimens and data available to researchers for the following approved purposes: identifying risk factors for children’s and women’s diseases; developing and evaluating screening tests (including updating the CNSP test); developing and evaluating screening strategies; and, developing and evaluating treatment. According to CDPH, for the CNSP program, the data available to researchers includes patient demographic data, analytic values for the screening tests as performed, determination of screen positive or screen negative status, and resolution of positive results as true or false positive. Newborn screening data are available from 1982 on. Researchers are not provided with any information that would allow them to identify the individual whose blood spots they are given. All research projects are required to be approved by the State Committee for the Protection of Human Subjects to evaluate the design, ethics, and confidentiality of the study. Only after this and potentially other institutional review boards have approved the project can the researchers apply to use CNSP blood spots, which is then subject to the approval of CDPH. Researchers are charged a processing fee for limited use of the spots and they must sign a use agreement that prohibits them from using the blood spots for any purpose except the approved research project. Once a project is complete, any remaining blood must be destroyed.

While the stored CNSP blood spots do have genetic material, according to CDPH most of the time the testing does not involve DNA. A small number of babies need an extra test that does involve DNA for a specific condition; however, the DNA sample is then destroyed. The CBP stores the dried blood spots but does not store information about an individual’s DNA. The state does not have a DNA database from the specimens collected. After CNSP testing has been completed, what is left of the paper with the blood spots is stored in a freezer

in a secure storage facility. The filter paper cards are labeled with a unique bar code with no other identifying information on them. The information to match the bar code on the card to an individual’s name is secured in a different site.

1. Recent concerns regarding genetic privacy. In April of 2018, police arrested Joseph James DeAngelo, alleging that he was the “Golden State Killer” suspected of at least 13 murders, 50 rapes, and 100 burglaries in California between 1974 and 1986. The break in the case arose from law enforcement’s use of publicly available genetic data supplied to the freely accessible genealogical database GEDMatch, to which users upload their genetic data received from direct-to-consumer genetic tests in order to identify familial matches among other users. Using the killer’s DNA profile collected from a rape kit, investigators submitted the killer’s genetic information to GEDMatch and identified ten to twenty relatives who shared the killer’s great-great-great grandparents. Investigators then reconstructed a family tree using this information, ultimately identifying two prime suspects, one of which was exonerated by a family member’s submitted genetic data; the other, DeAngelo, was a genetic match with the killer. Since that time, various articles, including a local news story and an academic article, have connected what law enforcement was able to do in the Golden State Killer case and the potential use of stored CNSP blood spot specimens.

Last year, after several attempts, the Legislature passed and the Governor signed SB 41 (Umberg, Chapter 596, Statutes of 2021), the Genetic Information Privacy Act which requires direct-to-consumer genetic testing companies to provide consumers with information regarding the company’s policies and procedures for the collection, use, and disclosure of genetic data and to obtain a consumer’s express consent for collection, use, or disclosure of a consumer’s genetic data. CNSP was expressly exempted from its provisions. There are several factors that distinguish CNSP from a direct-to-consumer genetic testing company, such as: a) CNSP serves a public health purpose rather than a private commercial purpose; b) CNSP specimens are not used to create a DNA database; c) participation in CNSP testing is mandatory with a limited exception; and, d) the use of CNSP specimens is limited to specific research purposes, some of which are to improve the CNSP tests themselves. Nonetheless, clearer consumer information about the use of the CNSP specimens and their rights may be warranted at a time when there are real concerns as to how genetic material may be used.

1. Double referral. This bill is double referred. Should it pass out of this committee, it will be referred to the Senate Committee on Judiciary.
2. Prior legislation. SB 41 (Umberg, Chapter 596, Statutes of 2021) established the Genetic Information Privacy Act which requires direct-to-consumer genetic testing companies to provide consumers with information regarding the company’s policies and procedures for the collection, use, and disclosure of genetic data and to obtain a consumer’s express consent for collection, use, or disclosure of a consumer’s genetic data. CNSP was specifically exempted.

SB 980 (Umberg of 2020) was substantively similar to SB 41. SB 980 was vetoed by the Governor who found the broad language of the bill could interfere with laboratories’ mandatory requirement to report COVID-19 test outcomes to local public health departments who report that information to CDPH.

AB 170 (Gatto of 2015) was substantively similar to this bill. AB 170 was held in this committee.

AB 1559 (Pan, Chapter 565, Statutes of 2014), expands CDPH statewide screening of newborns to include screening for adrenoleukodystrophy (ALD) as soon the federal Recommended Uniform Screening Panel approve the addition of ALD.

SB 222 (Padilla of 2014) would have enacted the Genetic Information Privacy Act, which would have required an individual’s written authorization prior to the collection of genetic information for testing, analysis, retention, or disclosure. SB 222 was held in the Senate Appropriations Committee.

SB 1267 (Padilla of 2012) would have required an individual’s written authorization prior to the collection of genetic information for testing, analysis, retention or disclosure. Would have required destruction of the genetic information upon completion of the purpose authorization was obtained. SB 1267 was held in the Senate Appropriations Committee.

AB 395 (Pan, Chapter 461, Statutes of 201), expands statewide screening of newborns to include screening for severe combined immunodeficiency.

SB 1103 (Committee on Budget and Fiscal Review, Chapter 228, Statutes of 2004), expands statewide screening of newborns to include tandem mass spectrometry screening for fatty acid oxidation, amino acid, organic acid disorders, and congenital adrenal hyperplasia.

SB 537 (Greene, Chapter 1011, Statutes of 1998), required CDPH to establish a program to provide extended newborn genetic screening services for persons who elect to have, and pay for, the additional screening.

1. Support. Sponsors California Health Coalition Advocacy write that each year in California, hundreds of thousands of newborn screenings are performed to detect genetic conditions. California indefinitely stores the residual blood samples and makes them available to third party researchers without the consent of parents and to law enforcement in the case of a court order. These blood samples contain a wealth of personal genetic information of children and parents should have the ability to consent to the storage of the sample and the use of the sample for research purposes. They state that this bill is needed to provide important information about newborn screening to parents and guardians and protect the genetic privacy of children born in California. The Electronic Frontier Foundation writes that newborn screening is standard in California and across the country and is considered one of the most successful public health programs. The increasing use of the database for law enforcement investigations, however, threatens to undermine the trust everyone can place in this important database. This would ensure that the state places commonsense privacy guardrails on this information, including blocking its use from law enforcement and setting reasonable data maintenance and consent rules around the information. A number of individuals write in support expressing concerns that genetic material should not be used without informed consent.
2. Opposition. The California Hospital Association writes in opposition stating that this would change the research component of the newborn screening program from opt out to opt in. Pregnant patients in labor or right after giving birth would be forced to make hurried decisions and fill out paperwork about storing blood spots and using them for research. It would also create an expensive administrative challenge for both hospitals and CDPH, as they would have to obtain, store, transmit, and coordinate several forms for each of the 500,000 babies born in California annually. The requirements in this bill would not give patients any new rights and would not improve babies’ health outcomes. On the contrary, the need for additional forms would increase the possibility of a baby inadvertently not being tested, with potentially devastating consequences. The bill would also jeopardize important research about infant health conditions. They also state that this bill would undermine California’s nationally recognized newborn screening program, which tests all newborn babies for life-threatening and seriously disabling diseases. If identified early, many of these conditions can be treated before they cause serious health problems. If they are not detected early, many will cause permanent and irreversible damage to the infant by the time symptoms appear. Early detection and treatment save and improve children’s lives, and reduce medical costs by eliminating or mitigating the devastating consequences of these rare and treatable diseases. The blood spots are securely stored and maintained by CDPH and may be used by bona fide researchers with CDPH approval.
3. Policy Comments.
4. Opt out versus opt in consent. The CBP has over 30 years of stored CNSP blood spots where express consent to use was not obtained. Should this bill pass with such a requirement, there could be question as to how the currently stored specimens may be used. CDPH does allow parents, guardians, and individuals over 18 to request that their or their child’s specimen be destroyed or not used for research purposes at any time, even years after the specimen was collected. As such, it is likely less disruptive to allow parents to affirmatively opt out of having their baby’s specimen stored or used for research purposes at the same time they are acknowledging receipt of information about the program, rather than opting in to allowing its storage or use. This will assure that parents have the opportunity to express their wishes and preserve the existing practice of allowing parents or the affected individual to later request that their specimen be destroyed or not used, without calling into question the current CBP holdings.
5. Minimizing the burden on providers regarding required forms. The opposition has expressed concern about maintaining additional forms in patients’ files and whether the requirement to have those forms may interfere with newborns participating in CNSP. Although more careful consideration of how parents are informed as to the use of their babies’ blood spots after the screening is complete may be warranted, it may also be worth considering whether there is a less burdensome way of documenting that parents have received the information and whether they consent to the storage and use of their child’s specimen. The author should consider discussing with the opposition and CDPH as to whether the existing CNSP test order form can be modified to include such information or whether there is a way that CDPH can maintain an online form that parents would sign and submit that would centralize the records maintenance.
6. Law Enforcement Prohibition. Currently, law enforcement can only obtain access to the CNSP specimens with a court order signed by a judge. According to CDPH, it has only released specimens to facilitate identification of unidentified human remains after receiving a court order. This has occurred 11 times in the last ten years. The author may want to consider whether an exception to the law enforcement prohibition in this bill is warranted.
7. Amendments. The author and the Committee have agreed to amendments that would address policy comment a) above and would make minor technical amendments to: a) clarify how CDPH should respond to requests from parents and individuals regarding the use and storage of blood samples; b) clarify that the information provided to parents is to be a single sheet brochure that may be double-sided; c) clarify who is to store the signed form in the medical record; and, d) remove language that would require CDPH to directly provide the informational brochure and form to parents.

SUPPORT AND OPPOSITION:

Support: California Health Coalition Advocacy (sponsor)

A Voice for Choice Advocacy (AVFCA)

Educate. Advocate.

Electronic Frontier Foundation

National Association of Pediatric Nurse Practitioners

Oakland Privacy

32 Individuals

Oppose: California Hospital Association

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