Nicole Miller, PhD, Vice President of Molecular Diagnostics at Ultragenyx Pharmaceutics, explains the importance of improving newborn screening and the limitations of current processes.
The Recommended Uniform Screening Panel (RUSP) is a list of disorders recommended for screening by the Secretary of the Department of Health and Human Services. The conditions listed in the RUSP are generally chosen based on data showing:
- A potential net benefit of screening
- an available screening test
- an effective treatment
Dr. Miller noted that it would be beneficial if rare genetic disorders with treatments in development were also included. This would allow those newly diagnosed patients to participate in clinical trials. Improving newborn screening in this way would not only benefit the patient, but also the drug development process.
To stay up-to-date on rare genetic disorders, visit checkrare.com/diseases/genetic-conditions/