
Catherine Nester, RN, Shares the Impact of Whole Genome Screening on Rare Disease
In this interview, Catherine Nester, RN explains the importance of entering phase 2 of the whole genome sequencing newborn screening program.
The
Transcript
What has the reception been from physicians, patients, and families?
I will speak specifically about how the patient care community feels about this. And I know the parents who run
This is life-changing for families like the families that that I work with, who have children with ENPP1 deficiency, this is just an absolute game-changer for them. So, many of those children don't get diagnosed–sometimes don't get diagnosed at all, sometimes don't get diagnosed until they've passed away. For those families, this is just the sort of thing that really gives them hope for the future, that having this broad screening program in place will actually help their children survive this disease. We can't underestimate how much this is really going to change care for infants.
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