Existing law requires the State Department of Public Health to establish a program for the development, provision, and evaluation of genetic disease testing.

Existing law establishes the continuously appropriated Genetic Disease Testing Fund (GDTF), consisting of fees paid for newborn screening tests, and states the intent of the Legislature that all costs of the genetic disease testing program be fully supported by fees paid for newborn screening tests, which are deposited in the GDTF. Existing law also authorizes moneys in the GDTF to be used for the expansion of the Genetic Disease Branch Screening Information System to include cystic fibrosis, biotinidase, severe combined immunodeficiency (SCID), adrenoleukodystrophy (ALD), and any other disease that is detectable in blood samples, as specified, and exempts the expansion of contracts for this purpose from certain provisions of the Public Contract Code, the Government Code, and the State Administrative Manual, as specified.

This bill would require the department to expand statewide screening of newborns to include screening for Duchenne muscular dystrophy as soon as possible, but no later than January 1, 2027. By expanding the purposes for which moneys from the GDTF may be expended, this bill would make an appropriation.

Date of Hearing: April 23, 2025

ASSEMBLY COMMITTEE ON APPROPRIATIONS

Buffy Wicks, Chair

ABPCA Bill Id:AB 242

Author:(Boerner) – As Introduced Ver:January 14, 2025

Urgency: No State Mandated Local Program: No Reimbursable: No

SUMMARY:

This bill requires the Department of Public Health (CDPH) to expand statewide screening of newborns to include screening for duchenne muscular dystrophy (DMD) no later than January 1, 2027 or as soon as possible.

FISCAL EFFECT:

For a similar bill, AB 2563 (Essayli), of the 2023-24 Legislative Session, CDPH estimated first-year costs of adding DMD screening to be $8 million to $11 million and ongoing annual costs of $6 million to $8 million dollars thereafter (Genetic Disease Testing Fund). The first-year cost includes equipment and modification to the Screening Information System. The ongoing cost includes supplies, consumables, design of result mailers, development of patient and provider educational materials, staffing for screening specimens for DMD, and follow-up activities at special care centers throughout California. CDPH stated it does not have the capacity to include DMD in the screening panel and will need to create a new screening process. CDPH also notes DMD is still under review by the federal Recommended Uniform Screening Panel (RUSP). CDPH also stated there was no laboratory-developed DMD testing and no U.S. Food and Drug Administration (FDA)-approved kits; however, sponsors state there is now an FDA-approved test that costs $8. Thus, the previous CDPH estimate may need to be updated with this information.

State law requires newborn screening in the Genetic Disease Screening Program (GDSP) be fee-supported, so the addition of DMD will require a fee increase to cover these costs.

COMMENTS:

1. Purpose. According to the author:

The road to get a DMD diagnosis is agonizing. Parents see their child is falling behind growth benchmarks, but are being told nothing is wrong. It ultimately leads to months or years of doctor visits with little to no answers. Parents and families spend over $200,000 in total medical costs and productivity loss to ensure their child gets the answers and attention they deserve. By adding DMD to California’s NBS Program, we can ensure that families receive critical support immediately after their child is born. It has the potential to save parents’ time and heartache, ensuring the money that would have been used going from doctor to doctor will go toward life-saving treatments for children.

1. Background.

DMD. According to the Muscular Dystrophy Association, DMD is a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact. DMD symptom onset usually occurs between ages two and three years and primarily affects boys. Muscle weakness is the principal symptom, first affecting the muscles close to the core of the body, and later affecting the distal limb muscles. Usually, the lower external muscles are affected before the upper external muscles. Progressive weakness and scoliosis result in impaired pulmonary function, which can eventually cause acute respiratory failure. Life expectancy for those with DMD is about 25 years, though some patients survive beyond 30 years. In Europe and North America, the prevalence of DMD is approximately one in 3,500 to 5,000 newborns – about 360 babies per year in the U.S. There are seven FDA-approved treatments for DMD, four of which can be used in infants.

Newborn Screening for DMD. Newborn screening for DMD has been performed primarily as pilot studies, in different places since the 1970s. Ohio, New York, and Minnesota have approved screening for DMD. The benefits of early detection include early treatments such as physical therapy, allowing families to prepare for supporting a child with DMD by accessing appropriate resources and considering family planning options for future children.

In August 2023, the federal Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) voted to move DMD screening to evidence-based review for inclusion on the Recommended Uniform Screening Panel (RUSP). The review process is ongoing. SB 1095 (Pan), Chapter 393, Statutes of 2016, requires CDPH to expand statewide screening of newborns to include screening for any disease that is detectable in blood samples as soon as practicable, but no later than two years after the disease is adopted by the RUSP.

1. Prior Legislation.
   
   SB 1095 (Pan) required CDPH to expand statewide screening of newborns to include screening for any disease that is detectable in blood samples as soon as practicable, but no later than two years after the disease is adopted by RUSP or enrollment of SB 1095.

AB 2563 (Essayli) would have required CDPH to expand the Newborn Screening Program to include screening for DMD and the purposes for which moneys from the Genetic Disease Testing Fund could be expended. AB 2563 was held in this committee.

Analysis Prepared by: Allegra Kim / APPR. / (916) 319-2081

Date of Hearing: April 1, 2025

ASSEMBLY COMMITTEE ON HEALTH

Mia Bonta, Chair

ABPCA Bill Id:AB 242

Author:(Boerner) – As Introduced Ver:January 14, 2025

SUBJECT: Genetic disease screening.

SUMMARY: Requires the Department of Public Health (DPH) to expand statewide screening of newborns to include screening for duchenne muscular dystrophy (DMD) as soon as possible, but no later than January 1, 2027.

EXISTING LAW:

1. Establishes the policy of the state to make every effort to detect, as early as possible, phenylketonuria (PKU) and other preventable heritable or congenital disorders leading to intellectual disability or physical defects. [Health and Safety Code (HSC) § 125000]
2. Requires DPH to establish a genetic disease unit to coordinate all programs in the area of genetic disease and to promote a statewide program of information, testing, and counseling services. Requires the unit to designate tests and regulations to be used in executing this program. [HSC § 125000]
3. Requires DPH to establish a program for the development, provision, and evaluation of genetic disease testing. [HSC § 125001]
4. Requires DPH to expand statewide screening of newborns to include tandem mass spectrometry screening for fatty acid oxidation, amino acid, organic acid disorders, and congenital adrenal hyperplasia as soon as possible. Requires DPH to provide information with respect to these disorders and available testing resources to all women receiving prenatal care and to all women admitted to a hospital for delivery. [HSC § 125001]
5. Requires DPH to expand statewide screening of newborns and include screening for severe combined immunodeficiency (SCID) as soon as possible. In implementing the SCID screening test, requires DPH to also screen for other T-cell lymphopenias that are detectable as a result of screening for SCID, insofar as it does not require additional costs or equipment beyond that needed to test for SCID. [HSC § 125001]
6. Requires DPH to expand statewide screening of newborns to include screening for 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 enrollment of the act amending this subdivision, whichever is later. [HSC § 125001]
7. Establishes the continuously appropriated Genetic Disease Testing Fund (GDTF), consisting of fees paid for newborn screening (NBS) tests, and states the intent of the Legislature that all costs of the genetic disease testing program be fully supported by fees paid for newborn screening (NBS) tests, which are deposited in the GDTF. [HSC § 124977]
8. Authorizes moneys in the GDTF to be used for the expansion of the Genetic Disease Branch Screening Information System to include cystic fibrosis, biotinidase, SCID, and ALD and exempts the expansion of contracts for this purpose from certain provisions of the Public Contract Code, the Government Code, and the State Administrative Manual, as specified. [HSC § 124977]

FISCAL EFFECT: Unknown. This bill has not yet been analyzed by a fiscal committee.

COMMENTS:

1. PURPOSE OF THIS BILL. According to the author, the road to get a DMD diagnosis is agonizing. The author states that parents see their child is falling behind growth benchmarks, but are being told nothing is wrong. The author continues that this ultimately leads to months or years of doctor visits with little to no answers. The author states that parents and families spend over $200,000 in total medical costs and productivity loss to ensure their child gets the answers and attention they deserve. The author contends that by adding DMD to California’s NBS Program, we can ensure that families receive critical support immediately after their child is born. The author concludes that this bill has the potential to save parents’ time and heartache, ensuring the money that would have been used going from doctor to doctor will go toward life-saving treatments for children.
2. BACKGROUND.
   1. Background on NBS. In the United States, screening of newborns is under the purview of state public health departments. Each state decides which disorders to screen, and expansion of each state’s panel of screened conditions occurs on a state-by-state basis. The federal government also plays a role in NBS through the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) of the Secretary of the Department of Health and Human Services (DHHS). The ACHDNC is charged with evaluating conditions for screening newborns and children for heritable disorders recommending to the Secretary of DHHS the conditions for which newborns and children should be screened. If accepted by the Secretary, these conditions become part of the Secretary’s Recommended Uniform Screening Panel (RUSP) which is made up of core and secondary conditions. Currently, there are 36 core and 25 secondary conditions on the Secretary’s RUSP. ACHDNC also established a system of nomination and evidence review to evaluate conditions that are candidates for screening.

NBS began in California in 1966 with screening for one disorder, called PKU. The CNSP has expanded and now includes 80 different disorders, both genetic (passed down in families) and congenital (present at birth). To ensure the health of all its newborns, state law requires that all babies born in California have NBS soon after birth. The goal of the program is to identify babies with these disorders early, so that treatment can be started right away. A parent or guardian of the newborn child may only decline NBS based on the objection that it conflicts with his or her religious beliefs or practices. The CNSP takes a blood sample from a newborn’s heel from 12 to 48 hours after birth to check for genetic disorders. At the same time, the newborn receives a hearing and congenital heart disease screening.

• 1. Background on DMD. According to the Muscular Dystrophy Association, DMD is a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact. DMD symptom onset is in early childhood, usually between ages two and three. The disease primarily affects boys, but in rare cases it can affect girls. In Europe and North America, the prevalence of DMD is approximately six per 100,000 individuals. Muscle weakness is the principal symptom of DMD, first affecting the proximal muscles (those close to the core of the body) and later affecting the distal limb muscles (those close to the extremities). Usually, the lower external muscles are affected before the upper external muscles. The affected child might have difficulty jumping, running, and walking. Other symptoms include enlargement of the calves, a waddling gait, and lumbar lordosis (an inward curve of the spine). Later on, the heart and respiratory muscles are affected as well. Progressive weakness and scoliosis result in impaired pulmonary function, which can eventually cause acute respiratory failure. Life expectancy for those with DMD has increased over the years, with some patients surviving beyond 30 years. According to a 2015 study titled “Prevalence of Duchenne and Becker Muscular Dystrophies in the United States,” prevalence of DMD has been estimated to be higher in Latino individuals than non-Hispanic white or Black individuals. In California, there are five certified Duchenne Care Centers.
  2. NBS for DMD. NBS for DMD has been performed, primarily as pilot studies, in various parts of the world since the 1970s as early detection was believed to be beneficial. The benefits include early treatments such as physical therapy, allowing families to prepare for supporting a child with DMD by accessing appropriate resources, considering family planning options for future children, and accessing treatments.

New York, Minnesota, Illinois, Massachusetts, and Ohio have all passed legislation authorizing screening for DMD in advance of the RUSP. Ohio and Minnesota are currently testing for DMD. Illinois enacted legislation to add DMD to its newborn screening program when funds are appropriated.

• 1. Available Treatments for DMD. In March 2024, the U.S. Food and Drug Administration (FDA) approved Duvyzat (givinostat) oral medication for the treatment of DMD in patients six years of age and older. Duvyzat is the first nonsteroidal drug approved to treat patients with all genetic variants of DMD. It is a histone deacetylase (HDAC) inhibitor that works by targeting pathogenic processes to reduce inflammation and loss of muscle. There are currently eight FDA-approved treatments for DMD, four of which are approved for use in infancy.
  2. DMD and RUSP. In August 2023, the ACDHNC voted to move DMD screening to evidence-based review. For conditions that have been added to the RUSP using this process, the time from when a nomination is first presented to the ACHDNC, to when the DHHS Secretary adds the condition to the RUSP has ranged from one year and nine months (21 months) to 10 years (120 months). The approval process is ongoing.
  3. Available Testing for DMD. The first tier screen for DMD evaluates CK-MM, the muscle isoform of creatine kinase. CK-MM is a biomarker of muscle damage and is highly elevated in newborns and children with DMD. In the event of elevated CK-MM, confirmatory testing is required. The presence of a pathogenic variant in DMD confirms the diagnosis. According to PPMD, both the screening and confirmatory test can be performed on the standard NBS dried blood spots, with no additional blood draw required. According to Parent Project Muscular Dystrophy’s website, Duchenne NBS based on CK-MM uses the same dried blood spots currently collected and the Genetic Screening Processor technology already available in most NBS laboratories.

1. SUPPORT. Destroy Duchenne (DD) supports this bill and states that DMD is a progressive, fatal muscle-wasting disease caused by mutations in the dystrophin gene. This condition leads to severe physical deterioration, robbing children of their ability to walk before their teens and ultimately affecting their heart and respiratory muscles. DD highlights that while DMD remains a life-threatening diagnosis, there are eight FDA-approved therapies, including pioneering gene therapy that introduces a functional micro-dystrophin gene to slow muscle deterioration, extending mobility and life expectancy. DD continues that DMD is a disease where time equals muscle loss, and early treatment significantly improves quality of life. DD continues that late diagnoses mean many children miss the crucial early window for gene therapy, cannot start corticosteroids on time, and are deprived of necessary accommodations in schools and homes. DD contends that by implementing a simple and cost-effective CK-MM test, California can dramatically change the trajectory of this disease. DD states that this bill will ensure early diagnosis, allowing families to start treatment at birth; improve medical equity by eliminating diagnostic delays in underserved communities; save families significant costs in medical expenses related to delayed diagnoses; and align California with leading states such as New York, Minnesota, Illinois, Massachusetts, and Ohio, which have already taken steps to integrate DMD into their newborn screening panels. DD concludes that this bill presents a unique opportunity for California to lead in transforming the future of DMD patients by ensuring that no child’s diagnosis is delayed when treatments exist today.
2. RELATED LEGISLATION.
   1. AB 1063 (Dixon) would authorize DPH to release a physical blood test taken from a newborn to law enforcement in response to a search warrant only if the objective of the warrant is to obtain the DNA of a missing person suspected to be a victim of homicide, child abuse resulting in death, or manslaughter in order to compare the DNA to other samples in the Department of Justice Missing Persons DNA Database and to upload the sample for future identification of the person. AB 1063 is pending in Assembly Health Committee.
   2. AB 1129 (C. Rodriguez) would authorize a local health officer to maintain a system for the collection of information related to birth defects and other birth anomalies. AB 1129 is pending in Assembly Health Committee.
3. PREVIOUS LEGISLATION.
   1. AB 2563 (Essayli) of 2024 would have required DPH to expand statewide screening of newborns to include screening for DMD as soon as practicable, but no later than two years after the disease is adopted by RUSP or enrollment of AB 2563, whichever is later. The bill would have expanded the purposes for which moneys from the Genetic Disease Testing Fund are expended. AB 2563 was held on the Assembly Appropriations Committee’s suspense file.
   2. SB 643 (Pan) of 2017 would have added DMD to the list of medical conditions eligible for coverage under the Genetically Handicapped Persons Program. SB 643 was vetoed, the Governor’s veto message stated:

California's implementation of the Affordable Care Act has expanded subsidized health care coverage provided by Medi-Cal and Covered California so that coverage is available to adults with serious genetic diseases such as Duchenne. As such, there is no longer a need to expand specialized coverage programs.

• 1. SB 1095 (Pan), Chapter 393, Statutes of 2016, requires DPH to expand statewide screening of newborns to include screening for any disease that is detectable in blood samples as soon as the disease as practicable, but no later than two years after the disease is adopted by RUSP or enrollment of SB 1095, whichever is later.
  2. AB 1559 (Pan), Chapter 565, Statutes of 2014, requires DPH to expand statewide screening of newborns to include screening for ALD as soon as ALD is adopted by RUSP.
  3. AB 395 (Pan), Chapter 395, Statutes of 2011, requires DPH to expand statewide screening of newborns to include screening for SCID and, insofar as it does not require additional costs, other T-cell lymphopenias detectable as a result of screening for SCID, and would make related changes.

1. POLICY COMMENT. SB 1095 (Pan), Chapter 393, Statutes of 2016 requires DPH to expand statewide screening of newborns to include screening for any disease that is detectable in blood samples as soon as the disease as practicable, but no later than two years after the disease is adopted by the RUSP. Given that other states have already included DMD in their newborn screening panels, the Legislature should consider whether adding DMD to California’s NBS would be helpful in reducing delayed diagnoses and providing families an opportunity to access treatment prior to further muscle degeneration and potentially saving families money while awaiting a diagnosis.

REGISTERED SUPPORT / OPPOSITION:

Support

Biocom California
California Children's Hospital Assn
Cureduchenne
Destroy Duchenne
Jett Foundation
Little Hercules Foundation
Muscular Dystrophy Association
Parent Project Muscular Dystrophy
Rady Children's Hospital
The Akari Foundation

One individual

Opposition

None on file.

Analysis Prepared by: Eliza Brooks / HEALTH / (916) 319-2097