Catherine Nester, RN, Shares the Impact of Whole Genome Screening on Rare Disease

The BeginNGS program has the potential to change the lives of patients with rare diseases like ENPP1 deficiency, according to Catherine Nester, RN, senior vice president of HCP and patient engagement at Inozyme Pharma. In this interview, Nester explains the impact of entering phase 2 of the whole genome sequencing newborn screening program.

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 GACI [Generalized Arterial Calcification of Infancy] Global–which is the patient organization, that is relevant to ENPP1 deficiency–they are ecstatic that this sort of program is happening and it's been a dream of theirs, that their patient community can find a more efficient way for these babies to get diagnosed. And they realize that the sooner you can get an infant connected to care, the better chance they're going to have to survive.

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.