Newborn screening (NBS) is a public health service within the United States through which babies are screened for medical conditions that otherwise wouldn’t be apparent at birth. Many of the diseases included in the screening benefit from early intervention, making early diagnosis extremely important.
There have been efforts to update and improve newborn screening across the United States, and a recent study published in JAMA Network Open examined the opportunities and challenges facing NBS.
About the Study
Knowing that NBS needs an update throughout the country, RTI International conducted a study in order to propose viable changes to the system. This study is the first of its kind, hopefully contributing to the modernization of NBS. In the end, the goal is to prevent injury and death through early diagnosis and treatment.
This research was supported by a number of organizations focused on rare diseases, such as the EveryLife Foundation, Orchard Therapeutics, Travere Therapeutics, BioMarin Pharmaceutical, and Serepta Therapeutics. Through their support and other efforts, these results were produced:
- Substantial changes must be made to NBS in order to keep up with the quick development of therapies
- Federal agencies have to comply and help with these changes
- There must be harmony between state resources and policies
- National legislation to update and support NBS
In the end, solutions were identified. The various parts of these solutions include better data, more funding, more cooperation and alignment between federal and state agencies, and increased capacity for genetic technologies.
Looking Forward
Hopefully, these data and solutions are taken into account and implemented, as they would lead to much better outcomes for rare disease patients.
You can read more about this study and NBS here.
