Table 5 Novel Approaches to Oversight, Partnership, and Collaboration: Exemplar Quotes

5.1.

Expand collaborative pilot studies to test implementation of screening

“If you’re trying to bring 30 conditions on by 2030, how do you get there...you’re going to need to get to some populated areas. We need inclusivity. We need diversity…. We need to think about these bigger states that have diversity and diversity of cultures, and how do we capture the most babies that we can through studies as quickly as possible?” (Panel 2, Participant 12)

5.2.

Develop expertise-sharing models

a. Create regional NBS laboratories with expertise and capacity in particular methodologies:

“Actually, just in the past couple of weeks I’ve talked to a few programs who are dying with their staffing…I think it is not only the number of staff, but the quality and competencies of staff, especially as we do look at our technology is becoming more complex, and the post-interpretation needs becoming more complex. So, I do think this whole ability for states to do their own screening is something we really have to think about and maybe start thinking about doing a more regionalized model that kind of disperses the need for these high [complexity] staff [roles].” (Panel 4, Participant 32)

b. Create or expand collaboration between state NBS programs and universities and academic centers:

“I really liked the idea of bringing in different centers, because I think that could be really advantageous, especially for maybe a state that doesn’t have geneticists. So the idea of being able to bring in different centers for the purpose of whatever that condition is, could be extremely advantageous.” (Panel 4, Participant 29)

5.3.

Develop a public-private partnership to increase resources and reduce burden on the NBS system

“When people say something like ‘public,’ ‘private,’ they think about…a pharmaceutical company or private lab working with a state lab. But I think what we’re really talking about is even wider. Stakeholders are thinking about different kinds of partners, whether those are academic medical centers, whether those are private health clinics, whether those are telehealth for genetic counseling programs. I think this idea of a multi-tiered stakeholder or multistakeholder collaborations are even beyond private, public, medical center, university...I do think that this idea of networked partnerships is going to be incredibly important, and it already is in both research and in the clinical world.” (Panel 4, Participant 30)

5.4.

Other innovative solutions: A “conditional RUSP”

“[A condition] might have a low threshold for initial approval, if you can develop a good rationale for why this ought to be on the roster, then go ahead and approve it, and then collect the data. After it’s been implemented, and people are doing more than a pilot study here, and more than say five states there, and re-review the data in a couple of years. This requires people to think about taking conditions off the RUSP, which is pretty much vanishingly rare now, but shouldn’t be. So how about a system in which you augment the development of the data by early approval, but then express a willingness to take it off.” (Panel 3, Participant 16)

5.5.

Improve education and public opinion about NBS

a. Reframe rare diseases as a collective public health burden:

“Chronic diseases, such as diabetes or cardiovascular, [affect] 1 in 10 Americans, and the idea that the public health system is very set up to deal with diabetes because 1 in 10 people in America have diabetes. So, newborn screening, which has a role to play in identifying those with rare diseases [could] extrapolate the idea that 1 in 10 people have rare diseases. It’s possible…that the public health departments in the United States receive federal funding for something like a rare disease program, just like they currently have a diabetes program. And then from there you could enable newborn screening to be an element of the rare disease program, just like diabetes screening and different efforts exist. And so, if you have more awareness of how prevalent rare disease is then it could enable a lot more support in the states from the feds in terms of funding to do more of the things that we probably all dream of doing.” (Panel 5, Participant 39)

b. Create a NBS public relations campaign:

“And I’m not just saying that we’re needing to educate when we’re pregnant and expecting. I mean, the education start as young as elementary and high school and why this is taking place and that this is an absolute great thing that you’re being offered to help ensure the health and safety of an unborn child...And so, I think that we really need to go some at some of these things we need to go back to the basics and really figure out how we can improve the education over time to ensure that families are not opting out of this amazing program.” (Panel 1, Participant 5)