GeneDx told the Rare Disease Advisory Council it is a sequencing and interpretation partner for large newborn genomic‑screening efforts, and patient advocates urged Connecticut regulators to consider adding Gaucher disease to the state newborn‑screening panel.

Shannon Belmont, director of government affairs for GeneDx, said GeneDx has sequenced more than 1,000,000 babies and will provide sequencing support for the NIH BEACON study, which the study team plans to test in up to 30,000 newborns across seven to ten states. Belmont described BEACON as a collaboration between public health labs and the study team that will return results to state labs using existing reporting workflows and develop condition‑specific implementation materials. She also described Florida’s Sunshine Genetic pilot, an opt‑in five‑year program targeting 10,000 newborns to screen for up to 600 conditions, and invited RDAC and Connecticut public health stakeholders to explore collaboration.

Advocates pressed the council to pursue regulator‑driven additions to Connecticut’s newborn screen for specific conditions. Aviva Rosenberg of the Gaucher Community Alliance urged DPH to add Gaucher disease to Connecticut’s panel, citing experiences from states that screen and arguing early diagnosis and enzyme‑replacement therapy can prevent irreversible complications. Meg Whitbeck described an 18‑month diagnostic delay for her son, significant health complications and family costs (she reported $14,780 in out‑of‑pocket expenses the first year before diagnosis), and said earlier detection would have reduced hospitalizations and lost parental income.

Members discussed referral paths to the Department of Public Health and that the organization prefers regulatory review over immediate legislation for adding conditions. GeneDx said public health labs, if selected, would retain reporting authority and the study team would help with gene lists and implementation materials.

Next steps identified on the record: RDAC members and stakeholders will consider engagement with DPH and GeneDx to assess feasibility; no regulatory change or bill was adopted at the meeting.