Catherine Nester, RN, Discusses the Advancement of the BeginNGS Screening Program

Catherine Nester, RN, senior vice president of HCP and patient engagement at Inozyme Pharma, shares insight on the BeginNGS newborn screening program as it concludes its first phase and initiates the second phase. According to the Rady Children’s Institute for Genomic Medicine, the program aims to screen newborns for treatable genetic diseases to enable early identification and intervention.

However, Nester explained this will not replace the Recommended Uniform Screening Panel (RUSP) but will complement it with the goal of making whole genome sequencing screening a standard of care for newborns and infants, addressing rare disease diagnostic challenges. The program added 23 new founding members to the BeginNGS Consortium and expanded to include 31 additional genetic disorders in its second phase screening, totaling 419 treatable genetic disorders.¹

Transcript

Can you elaborate on how the BeginNGS program differs from existing newborn screening practices?

The program that we have in place is amazing, right? It covers several diseases, but there's a lot of disparity in how that has been rolled out at a state level. To get a new disease on the RUSP can take about 10 years. It takes an incredible amount of money and an incredible amount of effort. Then, even once you get it on the RUSP, then it requires each of the states to then put it in their own local programs. So, this isn't going to try to replace that, what this is going to try to do is complement that, meaning it's another tool that we will have that can be used to make sure infants get a rapid diagnosis of their disease.

As the program advances how will the team ensure equitable access?

So, there are some big questions that the team is working really hard to answer. One is, as I mentioned, how do we scale this to not just 1000 babies but 100,000 babies and more? That's a big question that the team is working on.

Also the equity piece of this–will all states take this on in their own local programs? These programs are going to cost money even though the team is working really hard to get the cost of the program per infant down, it's certainly not going to be zero. So, the states are going to have to have some commitment financially, to make sure the program can be sustainable in their own local geographies. And the team will work with local states to see what kind of coverage could be put in place.

References

1. Rady Children’s Institute for Genomic Medicine Launches Phase 2 of BeginNGS Program for Identifying Treatable Genetic Diseases for Newborns. News Release. Rady Children's Institute. Published July 10, 2023. Accessed August 10, 2023. https://radygenomics.org/2023/rady-childrens-institute-genomic-medicine-phase-2-beginngs-newborn-sequencing/