Testing every newborn for heritable diseases in the United States is one of the most lauded—and most unseen—success stories of public health laboratories. But with the lack of federal oversight as well as the aging of the newborn screening (NBS) program workforce, NBS programs need to continue to build resilience into their laboratories.
With staffing cuts and funding limitations at the Health Resources and Services Administration (HRSA), there is a gap in recognizing holes in newborn screening. Those gaps and holes mean diagnoses are going to be missed.
Joe Orsini, PhD, deputy director of the Newborn Screening Program at the New York State Department of Health—Wadsworth Center, said that while newborn screening aims to eliminate false negatives, genetic testing introduces the possibility of false negatives.
“How we do that is still up in the air and maybe open for discussion,” Orsini said. “Without that group [HRSA] sending out grants, grant requests, looking for people that may have ideas for developing biochemical screens or developing second-tier biochemical screens, we are missing where holes are forming in newborn screening,” Orsini said.
The biggest hole is that there is no longer the Advisory Committee on Heritable Disorders in Newborns and Children that reviews requests to add new disorders to the Recommended Uniform Screening Panel. This means that screening tests that are available for new diseases cannot be added, so newborns with these diseases will be missed.
Technology continues to advance as does the cost, whereas laboratories’ budgets may not keep up with those costs. Genetic screening costs are still prohibitive and currently do not meet all the objectives of biochemical testing.
“I can see there being a good overlap with the two. I think the newborn screening programs are keeping their ear close to the ground and trying to embrace genetic screening as a way of improving the screening, especially in cases where there aren’t biochemical tests,” Orsini said.
Laboratories must balance the demand for additional screenings with the cost of new technology. They also must measure how the new technology impacts existing testing.
“I think a lot of us have thought at least for the next five or so years biochemical screening isn’t going to go away, just because of the nature of the speed and cost associated with doing genetic testing,” Orsini said.
Susan Tanksley, PhD, deputy laboratory director, Texas Department of State Health Services, thinks that improving existing processes is one way to continue to build resiliency in the NBS program.
“We want to have the best possible assays. If there’s a better technology, can that be incorporated into the program?” Tanksley said. “Looking at the cost of things, is there a less expensive way to do something and not cut into that quality?”
Orsini said picking up 80%–90% of individuals with disease through a genetic screening like the BRIDGES study is great if that is the only way to do it. He believes there ought to be mechanisms put in place to push researchers to develop more screening approaches.
“In Texas, we’re typically not one of the first programs to implement something. We really lean on the learnings of other programs who are early adopters and making those connections,” Tanksley said.
Greg Bonn, newborn screening operations manager at the Colorado Department of Public Health and Environment, said with COVID-19, their laboratory spun up several platforms and tests, and leadership wanted to keep the knowledge in-house. Then there is the reality that as newborn screening gets more complex, the number of specimens goes down while the cost of each specimen rises.
Colorado runs a lean laboratory, according to Bonn, meaning funds are limited as are samples and they currently reach out to other newborn screening programs for assistance.
“It is looking around, seeing what else is happening in your building. If you’re part of a health department or if you’re part of a larger university it becomes what can you work and leverage together,” Bonn said.
Tanksley adds that it is fortunate that newborn screening is such a sharing, collaborative community because the laboratories can make those connections and ask questions.
The Wadsworth Center is one of those laboratories that helps with providing screening oversight and expertise to laboratories who request assistance, Orsini said.
Bonn emphasized that another challenge is the assumption that because the birth rate has gone down and leveled off, newborn screening is doing less work than it has in the past.
“There’s a lot more that we test for and report out and share. We may have lost 3,000 kids a year, but we’ve added 70,000 tests when we add a new condition,” Bonn said.
Bonn, Tanksley and Orsini agree that second-tier testing may be an important part of newborn screening’s future.
“If there are good genetic approaches that have poor first-tier screening approaches, more difficult or slower second-tier biochemical testing could be done. I think that’s something that needs to be looked at,” Orsini said.
The push for higher tier testing requires staffing and expertise that not all laboratory programs have.
Technology is only as effective as the laboratory staff administering the testing. Current newborn screening staff are aging, meaning recruitment and retention are also a key to ensuring resiliency within NBS programs.
“You can do more with people that are already knowledgeable rather than having to retrain people constantly. You want them to advance so that the program can continue to grow and advance,” Tanksley said. “It can be considered an investment and not just a cost.”
Retention is the biggest challenge at the Colorado laboratory. Bonn says the Colorado laboratory is an entry-level job on the laboratory technologist side. He added that it is expensive to live in the Denver area but he believes that their pay makes up for the higher cost of living.
“We’ve developed a pay plan to try to keep those techs as long as we can, but it’s the idea that a lot of times we’re hiring a biology or chemistry degree fairly recently out of college, if not right out of college, and training them. And once they get three to five years’ experience, they leave,” Bonn said.
Bonn added that openness and honesty about pay and promotions are part of Colorado’s plan. In their first year, a technologist learns to operate every platform in the laboratory. After two to three years, they can begin to specialize.
“We still need weekend coverage, so people need certain competencies. But then they can specialize and learn more. We’ve outlined a pathway so they know what their salary is within the first year, two years and then five years,” Bonn said.
The situation in Colorado shows that knowledge and experience come at a price.
“I think that all states are facing how do we pay people so that we are competitive with the private sector, because having job security isn’t something that younger people are as concerned with. They need to pay their bills; they want to buy a house,” Orsini said.
Tanksley cited the COVID-19 pandemic as a period where she felt that her laboratory was a training ground for anybody who wanted to perform a polymerase chain reaction (PCR) test for the virus.
“We lost a lot of people because the money was much better in the private sector. As those companies shut down, we’ve benefited from some of the staff who left those companies who needed a stable job,” Tanksley said.
Over the past few years, the Texas laboratory has built up their compensation package due to high turnover. Colorado gives their staff a pathway that shows what happens to their salary and position opportunities if they stay.
“It’s costly to lose a position because some of these (positions) may require a year or two of training before they’re fully competent. If you lose somebody after two years, you’ve lost all that training as well,” Tanksley added.
The flip side is what Orsini described as job inflation.
“You have to hire people at a higher grade level, just to get them in the door. And they’re kind of minimally meeting those job requirements,” Orsini said. “I feel like we’ve been somewhat fortunate that the Wadsworth Center is just an exceptional place and New York State’s salaries are fairly competitive.”
Orsini believes in giving people “promotion ammunition.”
“We try to give people who have the talent, the interest and the drive a position where they’re going to be able to do the kind of work that will get them a promotion down the road,” Orsini said.
Orsini added that while they have been able to fill empty positions, it has been a challenge to add new positions.
Opportunities for growth and professional development are also tools Tanksley hopes to use to attract and retain staff. Texas will be implementing a mentoring program for staff and new managers along with a “buddy system” for new employees.
“We’re hoping those things will help because it’ll give exposure to people they’re normally not in contact with, and someone to really encourage professional growth and development,” Tanksley said.
The Wadsworth Center also believes mentoring can help with retention.
“There’s also a professional growth group that was put together in the past two or three years where we’re doing actual mentorship with new supervisors, trying to give them direction as to what they can improve on with communications or whatever knowledge they may need,” Orsini said.
Remote work is one area that can be both innovative and a recruiting and retention tool.
“We’ve also allowed for more remote working possibilities. I think the lab has taken advantage of being able to remotely monitor data and do data work from home. We’ve tried to accommodate people allowing them to do that where it makes sense,” Orsini said.
Tanksley admits she did not know about public health until she started working at a public health laboratory. She believes early exposure is key to bringing up the next generation of newborn screeners.
“We offer tours. Some are educational for genetic counselors. Some are for future nurses or doctors where we teach them about the things we do in the laboratory, and newborn screening is part of that,” Tanksley said.
Orsini said that Wadsworth does presentations to communities explaining that newborn screening is much more than just a newborn’s heel prick. He added the outreach extends to colleges as well.
“We’re trying to reach out to biology, chemistry majors—people with the appropriate background—to fill the need in settings where they’ll be able to explore what their career options are,” Orsini said.
The Texas laboratory is working on a way to improve efficiencies in testing. Tanksley explained that the laboratory has assays for lysosomal diseases and Krabbe disease. Currently, they require an 18-hour incubation period because of the Krabbe assay. The US Centers for Disease Control and Prevention has developed a method that requires only a three-hour incubation.
“We are now adding metachromatic leukodystrophy (MLD) to the same assay. It may or may not work, but we are also looking at adding two other tests that are done by different methods onto that assay,” Tanksley said.
Multiplexing these assays could be an improvement to the process that would reduce costs and reduce the amount of staff time needed to conduct the tests. Orsini said that his laboratory reduced the number of testing methods to do more multiplex testing.
Orsini believes the laboratories themselves are what will keep newborn screening resilient.
“Futureproofing still comes back to us. I think programs are trying to be involved and see where we can use the new technology to enhance and not necessarily replace what we are already doing,” Orsini said.
