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NORD's New Report on Newborn Screening

The National Organization for Rare Disorders (NORD®), a leading advocate for individuals affected by rare diseases, has released an important new report titled "Preserving Public Trust in U.S. Newborn Screening System." This report serves as a comprehensive analysis of the role that leftover samples from newborn screenings play in both public health and rare disease research.

Understanding Newborn Screening

Newborn screening programs are crucial in identifying congenital conditions early in a child's life. By testing dried blood spots (DBS) collected shortly after birth, these programs can detect various disorders that, when treated promptly, greatly enhance the life prospects of affected infants. The recent NORD report highlights how vital these residual samples are in sustaining effective screening programs and advancing research directed at rare diseases.

The Challenges Ahead

Despite their importance, the use of DBS is facing significant challenges. Recent legal disputes, law enforcement inquiries, and widespread health misinformation threaten the accessibility and usage of these samples for further research. NORD emphasizes that any modifications in policy must preserve public trust and promote transparency to avoid endangering these essential health programs.

Heidi Ross, the Vice President of Policy and Regulatory Affairs at NORD, states, "Newborn screening saves thousands of children's lives each year in the United States. Ensuring public trust in these programs is paramount, and any policies must prioritize transparency and community engagement."

Policy Recommendations

In collaboration with various patient advocacy organizations, NORD has proposed several policy recommendations to support and safeguard newborn screening initiatives. These recommendations include:

• - Restricting Law Enforcement Access: States and territories are encouraged to prohibit law enforcement from accessing residual DBS and newborn screening data.
• - Federal Support: Congress is urged to reauthorize and provide necessary funding for federal newborn screening programs.
• - Public Attitude Survey: Conduct a national survey to better understand public perceptions regarding newborn screening initiatives.
• - Awareness Campaigns: Newborn screening programs and health systems should embark on public awareness initiatives, emphasizing the significance of retaining and using DBS in public health contexts.
• - Transparency Measures: States and territories must enhance transparency regarding policies for the retention and research use of residual DBS.

Moving Forward with Transparency

NORD recommends establishing principles to guide the responsible stewardship of newborn screening data. These principles should include fostering parental autonomy regarding their choices about the residual samples and ensuring the secondary usage of DBS directly contributes to public health and the enhancement of screening programs.

As NORD continues to advocate for rare disease communities, this report serves as a foundational document for policymakers, healthcare professionals, and the general public. It underscores the urgent need for collaborative efforts to secure vital resources and maintain the integrity of newborn screening initiatives.

With over 30 million Americans living with rare diseases, NORD's commitment to advancing care, research, and policy remains unwavering. The organization, representing the interests of numerous patient advocacy groups, is dedicated to protecting the future of newborn screening, ensuring continued trust and engagement from the public.

For those interested, the full report can be downloaded from NORD's official website. In conclusion, as we face mounting obstacles, the message is clear: together, we must defend and enrich the newborn screening landscape to foster a healthier future for all children.