Catherine Nester, RN, vice president of physician and patient strategies at Inozyme Pharma, highlights the importance of newborn screening for rare diseases and the impact of the BeginNGS diagnostic tool.
The BeginNGS Consortium aims to deiver rapid diagnostic screening for rare disease in newborns, says Catherine Nester, RN, vice president of physician and patient strategies at Inozyme Pharma.
What is the motivation behind the BeginNGS newborn screening program?
I think a lot of people who are caring for or working in the rare disease space realize that an early diagnosis for infants can really change outcomes. It can change survival rates; it can change long-term development that these infants are able to achieve. And so, the overarching wish here was to find a way to shorten that diagnostic odyssey for these infants. What better way to do that, but to include this as part of a newborn screening program. We're not doing away with the existing program, but just complementing that and really trying to make sure we can get a rapid diagnosis for all newborn babies.
How did your team become involved in the BeginNGS Consortium?
Inozyme got involved as one of the founding members of the consortium. We heard about it from the radiology team; we were really excited about what the program was going to try to achieve. And as you probably remember, this is a public private consortium, so there are lots of stakeholders that have come to the table to help with this.
It started out a year ago just really trying to answer some important questions about how this was going to work. Of course, something this big and ambitious is going to have to be scaled. So, some of that early work has been about how do they decide which diseases are going to be included, what's going to be reported back to clinicians, how do we protect data—those sorts of things. So, some of that early work has really been focused around how do you scale something this aspirational.