October 25, 2023 / Advocacy

Duchenne Added to New York State’s Newborn Screening Panel

For more than a decade, PPMD has worked towards newborn screening (NBS) for Duchenne, including initiating a pilot study in New York State and developing a nomination package for federal review as a recommended condition for newborn screening.

Today we are proud to share that these efforts, in combination with the efforts of our partners and families, have led to a big success. Governor Hochul of New York State (NYS) has signed bill S6814/A5042, making Duchenne newborn screening mandatory for all babies born in the state.  Approximately 210,000 babies are born in New York State every year, which means that we expect NBS in NYS to identify at least 21 babies with Duchenne annually beginning in 2024.

Where It All Started

New York State has paved the path in advancing Duchenne newborn screening, notably through a pilot program carried out from 2019 to 2021. The pilot study was a collaborative effort between PPMD, the New York State Newborn Screening (NYS NBS) program, Northwell Health Hospitals, New York-Presbyterian Hospitals, the National Insti-tutes of Health (NIH)-supported Newborn Screening Translational Research Network (NBSTRN) housed at the American College of Medical Genetics and Genomics (ACMG), along with generous funders. The pilot identified four infants with Duchenne or Becker muscular dystrophy and one female carrier within New York State and helped PPMD’s Duchenne newborn screening package pass the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) Nomination and Prioritization earlier this year.

Additionally, New York is home to two Certified Duchenne Care Centers, the University of Rochester Medical Center and Stony Brook, ensuring that babies diagnosed with Duchenne in NYS receive optimal care and support.

A Milestone in New York

New York State is now the second state, after Ohio, to mandate newborn screening for Duchenne. This milestone represents a significant advancement in the broader effort to expand newborn screening for Duchenne to other states.

Niki Armstrong, PPMD’s Senior Director of Community Research and Genetic Services, passionately emphasizes the significance of this bill being signed into law in NYS, stating:

“Families with newborns identified through the newborn screening program will benefit from monitoring their child’s development, receiving appropriate physical and speech therapy, genetic counseling, and carrier screening for family members. Early initiation of care will allow these families to establish strong relationships with their care teams and explore all available treatment options. With universal newborn screening, diagnosis becomes equitable. Families will not have a three-year diagnostic odyssey or learn of the diagnosis at age six, when eligibility  for an approved gene therapy treatment is no longer an option.”

Community Coming Together

Lauren Stanford, PPMD’s Director of Advocacy, acknowledges the profound and far-reaching impact of the Duchenne community in the passage of this groundbreaking legislation. She warmly states:

“We extend our heartfelt gratitude to the determined families and dedicated clinicians who provided compelling testimony to the New York State legislature and committees throughout this process. It is your unwavering dedication, passion, and tireless efforts that have played a truly pivotal and transformative role in achieving this historic and momentous success.”

Get Involved

This is another pivotal step forward for newborn screening for Duchenne, but it’s just the beginning. Our vision is to ensure that all babies in all states have the same opportunities for diagnosis and care.  PPMD continues to work towards the inclusion of Duchenne on the federal Recommended Uniform Screening panel (RUSP), promoting newborn screening for Duchenne in other states, and expanding additional Certified Duchenne Care Centers across the country. 

If you are interested in supporting state or federal efforts by sharing your story or contacting your state elected officials, please reach out to Lauren Stanford at lauren@parentprojectmd.org.

To learn more about PPMD’s work in newborn screening, click here.

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