Dean Suhr, President and Co-Founder of the MLD Foundation, discusses a paper and corresponding poster presentation on a recent survey of newborn screening experts on strategies to modernize newborn screening in the United States. The paper was published in JAMA with the poster was presented at WORLDSymposium 2022.

As Mr. Suhr explains, the current newborn screening system has a number of stakeholders, which he argues both decreases speed of crucial information to the parents and removes focus from the infant and family’s well-being. Furthermore, there is a lack of clarity on how best to connect patients with specialists who know about the disease.

The paper describes a survey study of 40 NBS experts who completed an online survey in which they considered 20 potential solutions for modernizing NBS and rated each. The ​​20 potential solutions fell into 5 domains: timeliness of disorder review, alternative mechanisms to offer screening for new disorders not currently part of NBS, expanded data collection, support for states, and emerging methods of screening and their consequences. Overall, there was a consensus that substantial changes would be needed in order to add 30 disorders to the RUSP within a decade. Slightly more than half (22 [55.0%]) preferred to retain the current system and make all changes within it, while developing a small number of new components. Others (18 [45.0%]) felt that more substantial changes were needed, developing many new components or an entirely new system; however, they were divided in their preferred approach for improving NBS. 

To read the full article, go here.

To learn more how rare disease become part of newborn screening (and obtain CME credit), click here.

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