National Organization for Rare Disorders (NORD®) Issues New Report on Life-Saving Newborn Screening Programs

NORD offers comprehensive review on statewide practices related to screening sample retention, provides policy recommendations

WASHINGTON, Feb. 10, 2025 /PRNewswire/ -- The National Organization for Rare Disorders (NORD®) today published a new report on the critical role that leftover newborn screening samples play in public health and rare disease research.

"Preserving Public Trust in U.S. Newborn Screening System," authored by NORD in partnership with a dozen rare disease patient advocacy organizations, explores the retention and secondary usage of residual dried blood spots (DBS) collected during newborn screening.

NORD's report emphasizes the critical role that residual DBS play in ensuring the effective functioning of state and territorial newborn screening programs, as well as advancing rare disease and public health research. However, states' ability to use these samples is under threat from recent legal challenges, law enforcement actions, and health misinformation.

"Newborn screening saves the lives of thousands of children in the United States every year. Any policy changes must preserve public trust and embrace transparency so as not to jeopardize these critical health programs," said Heidi Ross, NORD Vice President, Policy and Regulatory Affairs.

NORD, in partnership with member organizations representing individuals impacted by conditions that are included or recommended for inclusion in newborn screening programs, has also drafted a set of policy principles and recommendations laying out proactive steps policymakers can take to fortify public trust and ensure continued participation in newborn screening.

To address current challenges to newborn screening programs' retention and secondary use of residual DBS, NORD recommends the following actions:

• States and territories should bar law enforcement access to residual DBS and newborn screening data.
• Congress should reauthorize and provide appropriations for federal newborn screening programs.
• Congress should fund a national survey of attitudes toward newborn screening programs in order to better understand public perception.
• Newborn screening programs and health systems should initiate or expand public awareness campaigns and include information emphasizing the public health importance of residual DBS retention and usage.
• States and territories should increase transparency by visibly highlighting policies regarding residual DBS retention as well as clearly define the ways in which residual DBS may be used in research.

When developing or amending policy around the retention and secondary usage of residual DBS, NORD recommends that newborn screening systems adopt these principles: be good stewards of residual DBS and newborn screening data; preserve parent/guardian autonomy and choice in decision making about residual DBS retention and secondary usage; any secondary usage of residual DBS should advance public health and the optimal functioning of newborn screening programs; and all decisions surrounding residual DBS retention and secondary usage should be transparent and accessible to the public.

Download the report here.

Acknowledgements

NORD thanks colleagues from the following organizations for lending their insight and expertise to the development of this paper:

Cure SMA
Cystic Fibrosis Foundation
flok Health
HCU Network America
Immune Deficiency Foundation
Muscular Dystrophy Association
National MPS Society
National PKU Alliance
National Urea Cycle Disorders Foundation
Organic Acidemia Association 
Parent Project Muscular Dystrophy
United Leukodystrophy Foundation 

About the National Organization for Rare Disorders (NORD®) 

With a more than 40-year history of advancing care, treatments, and policy, the National Organization for Rare Disorders (NORD®) is the leading and longest-standing patient advocacy group for the more than 30 million Americans living with a rare disease. A nonpartisan, independent 501(c)(3) nonprofit, NORD is dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 350 patient organization members, is committed to improving the health and well-being of people with rare diseases by driving advances in care, research, and policy. 

SOURCE National Organization for Rare Disorders (NORD®)