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Senator Lesser, Representative Gilchrest, Senator Seminara, Representative Case, and members of the Human Services Committee, thank you for the opportunity to submit testimony in support of H.B. 5367 (RAISED) AN ACT CONCERNING MEDICAID COVERAGE OF RAPID WHOLE GENOME SEQUENCING FOR CRITICALLY ILL INFANTS.
My name is Jodie Gillon, and I am the President and CEO of BioCT. BioCT is a leading voice for the life science industry in Connecticut. Our mission is to catalyze and accelerate growth in the life sciences with the goal of improving human health, by fostering a rich, innovative ecosystem and promoting Connecticut as a preferred destination for life science exploration and innovation. Our members include life and healthcare science companies, major research universities and other academic institutions, health centers, medical device developers and manufacturers and other partners. We educate, cultivate entrepreneurship, support the growth of life science companies and collaborate to ensure a sustainable, high-value life science and healthcare community that improves our quality of life and keeps the Connecticut economy strong.
On behalf of our organization, I would like to voice my support for HB 5367. This bill would help expand access to rapid whole genome sequencing for critically ill children. Studies demonstrate rapid whole genome sequencing is the most powerful tool available in the diagnostic odyssey of rare disease patients shortening the time to diagnosis for patients with a genetic variant from on average 8-10 years to days.
There are approximately 10,000 known rare diseases and 80% have an associated genetic mutation. We not only have the tools at hand to test for these disorders, but they have been vastly improved and are now available faster and cheaper. A recent Nature review (https://www.nature.com/articles/s41525-024-00404-0) of 44 key publications highlighted that
genetic testing enabled a diagnosis of 37% of babies in the ICU with a decrease in cost of almost $15,000 per infant however that does not take into account the lifetime cost of delayed or misdiagnosis both directly and on patient outcomes.
HB 5367 only considers critically ill infants when the three following conditions are met: (1) The infant having symptoms that suggest a diagnosis that would require an evaluation utilizing multiple genetic tests if rapid whole genome sequencing is not performed, (2) the infant’s treating health care provider having provided a written determination that rapid whole genome sequencing is necessary to guide clinical decision making, and (3) the infant having a complex or acute illness of unknown etiology.
At our rare disease forum at The Jackson Laboratory on March 7th, our sequencing panel comprised of a Yale clinician and CT based payor both commented on how we underutilize genetic testing the best tool we have available. We need to do all we can to educate and build awareness so this tool is more widely utilized over place further restrictions upon it.
This bill, as written, is narrow in focus and thoughtfully crafted to benefit the patients who need it most without being overly burdensome for our Medicaid program. I ask you to support HB 5367.
Respectfully submitted,
Jodie Gillon
President & CEO, BioCT