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Rare Disease Advisory Council reports newborn CMV screening win, expands sudden-death genetic testing
Summary
The state Rare Disease Advisory Council reported passage of newborn CMV screening legislation, work on telehealth access, community outreach and a new program to fund genetic testing for unexplained sudden deaths in young people through CDC grant support.
The New Hampshire Rare Disease Advisory Council presented its annual report to the oversight committee, highlighting a newly passed newborn-screening law, outreach and a new genomic testing initiative for unexpected deaths in children and young adults.
"I just wanted to give you a little bit of an overview, of the rare disease advisory council, and and really starting with rare diseases in general... New Hampshire was the first rare disease advisory council in New England," said Dr. Marybeth Denolbas, a pediatric geneticist at Dartmouth Health and chair of the advisory council.
The council reported that House Bill 355, a measure to add cytomegalovirus (CMV) screening to the newborn panel, was enacted in July 2024. Council members said they supported the statute and will work on implementation details and outreach to providers.
The council also described collaboration with national rare-disease networks and local outreach activities conducted around Rare Disease Day, including legislative outreach, media appearances and community awareness events.
Council members described a new program using CDC grant funds and partnerships to expand postmortem genetic testing in cases of sudden unexpected death in the young, focusing on cardiac- and seizure-related genetic panels. Denolbas said the testing will help provide diagnostic closure for families and identify at-risk relatives who may need clinical follow-up.
The council noted telehealth developments and said changes to licensure and telehealth policy have aided patients with rare conditions who require specialty care outside New Hampshire. The council encouraged continued legislative attention to licensure and telehealth access.
Ending: Council leaders asked for continued legislative support for appointment continuity and for resources to support council outreach and project work, and they said they will continue collaborating with DHHS and national organizations to advance screening, testing and education.
