Table 3 Overarching Panel Themes: Exemplar Quotes

3.1.

The infant’s well-being should be the focal point for the NBS system as new solutions are developed and implemented.

“Because in the end, we’re trying to save a child. We’re trying to save a baby...Who are we, if we fund basic science, basic science moves to translational science, then moves to clinical trials, INDs, IRBs, clinical trials and approved therapies to the FDA. And we cannot figure out a way to deliver the therapy to a baby? But we have just spent a billion dollars to develop the therapy and answer the science that can bring a life-saving therapy to a baby, but we’re going to let the newborn screening be the hiccup? That doesn’t even make any sense to me.” (Panel 2, Participant 12)

3.2.

The transformative therapy pipeline is a threat to NBS system capacity, which already suffers from inefficiencies and delays because of burden on federal and state systems.

a. The RUSP review process:

“What I always tell other groups [preparing RUSP nominations] when they come and ask me, is that if you have a projection day from when you have a therapy, you need to be working simultaneously on newborn screening several years before you think you’re going to have an approved drug, because there’s multiple different levels. You have to get prepared and get buy-in from a large community of different stakeholders before you’re ever going to have enough data and evidence and comfort level to have your condition put on the RUSP.” (Panel 2, Participant 11)

b. State-level factors affecting implementation:

One of the initial assumptions [in the scenario provided], was that there is a method for screening available, but that doesn’t take into account what has to be done at the state level. That method has to be scaled up, and all the procurement involved with that. And just because there’s a valid method doesn’t mean that a particular state lab can just kind of turn it on one day. So that’s part of the time commitment involved. (Panel 4, Participant 33)

3.3.

Decisions about how to modernize the NBS system should be evidence-based.

“If we’re looking towards a 2.0 system, what are the concepts around the 1.0 system that we need to retain? And I think the existence of a national advisory body with appropriate expertise is something that ought to be retained. I don’t think we want to go back to a circumstance where all the states are making their own decisions. Traditionally, we’re not always evidence-based.” (Panel 3, Participant 16)

3.4.

Additional financial support is required but is not sufficient for successful NBS modernization.

“We have to really be thinking that [NBS] is embedded in a US healthcare system, which is fairly disjointed and where, despite what we were told [in the transformative therapy scenario], money is very important, and access is quite variable…I just wonder what the next steps look like.” (Panel 3, Participant 23)

3.5.

Successful modernization will require the participation and coordination of multiple stakeholders and organizations in the development, implementation, and ongoing evaluation of new solutions.

“In order to move forward and to recreate newborn screening we need a group like this with all of these different perspectives coming together to hash out sort of what the issues are from the various viewpoints. I agree 100% with what [Advisory Committee] said, and with [Research Leader] and [State Leader]. Really, this whole personalized medicine versus newborn screening versus diagnostic testing is really at the crux of where the group is coming from, from their various perspectives.” (Panel 3, Participant 24)