Firefly Fund’s Newborn Screening Working Group completed its final meeting of the year in December — the Annual Stakeholder Meeting. While in Washington, D.C., the Working Group reviewed the year’s activities and set sights on key research and advocacy activities for 2020. Key activities for the past year included a series of Working Group calls, the first annual NPC Clinical Roundtable, the first NPC community webinar delivered in partnership with the National Niemann-Pick Disease Foundation, and major community presentations.
Significantly, we were also proud to announce the inclusion of NPC in the ScreenPlus pilot newborn screening study in New York, the largest consented multi-disorder newborn screening pilot study ever conducted in the United States.
Key external speakers at the stakeholder meeting included representatives from the Association of Public Health Laboratories and the American College of Medical Genetics and Genomics. Leaders from both groups discussed key barriers and opportunities we can expect to face on the path to adding NPC to newborn screening lists nationwide. Experts outlined what the NPC community will need to demonstrate in terms of “readiness” for routine newborn screening — such as having an accurate screen and effective treatment options. They also described challenges in the public health system that could delay adoption — such as having a provider group that can manage patients and enough capacity in state labs to add an additional test.
Looking ahead, Firefly Fund is excited to welcome additional members to the Working Group, broadening support for the effort from industry, NPC community and NPC/newborn screening experts.