Newborn Screening Programs in America, widely considered to be one of the most successful public health programs in the country, have been underfunded by the federal government since 2019, and after the COVID-19 pandemic began in 2020, they have also been understaffed. Despite these considerable challenges, a new study co-authored by a Rutgers student has found that NBS programs are resilient, and their work continued unabated during the pandemic.

The study, “Common Challenges and Identified Solutions for State Newborn Screening Programs during COVID-19 Pandemic,” was co-authored by Liesl Broadbridge, a board-certified genetic counselor and Ph.D. student at the Rutgers School of Communication and Information, and was published in the International Journal of Neonatal Screening in January 2022.

"We found that NBS programs need to be identified by the federal and state governments as essential services and their staff need to be classified as essential."

“While many institutions, including medical institutions, needed to scale back programs, or delay procedures, during the pandemic, state newborn screening labs were successful in continuing these vital services”, Broadbridge said. “This paper is a deep dive into what went well, what challenges and barriers labs faced, and lessons the newborn screening (and public health institutions more generally) can take forward to future public health emergencies.”

NBS programs, Broadbridge said, test approximately 3.84 million newborns born in the United States annually for a variety of rare diseases that can cause serious health problems starting in infancy or childhood. Early detection and treatment can help to prevent intellectual and physical disabilities for the life‐threatening rare diseases that can be discovered on NBS tests.  

The rare disease community, Broadbridge noted, includes over 30 million Americans, who have been diagnosed with at least one of more than 7000 rare diseases that have been identified, and can take more than 6 years to receive a diagnosis.

Broadbridge conducted the research for this paper in collaboration with her colleagues at the EveryLife Foundation for Rare Diseases, where she worked as a genetic counselor and policy fellow.

In December 2020, Broadbridge said, EveryLife held a scientific workshop to bring together stakeholders who are experts in the NBS field, as well as patient advocates, to discuss different aspects of COVID-19 and the ways the pandemic has impacted the rare disease population.

"Our findings show that the flexibility and resiliency of the NBS staff, the cross-training of staff, and the implementation of telehealth have been key to the success of NBS programs during the pandemic."

“After listening to public health officials and patient advocates from across the country, and particularly in the NBS programs of New York, Wisconsin, and Iowa, share their perspectives on the challenges they faced and describe how they overcame them, we were very inspired by everything that was discussed,” Broadbridge said. “As a result, my colleagues and I decided to compile notes from the sessions into a publication to be able to share the workshop discussions with the broader public health community. Even though we tried to include a large stakeholder group to see the online workshop live, we felt the discussions could have an impact outside of our rare disease community and for other public health officials.

“Our findings show that the flexibility and resiliency of the NBS staff, the cross-training of staff, and the implementation of telehealth have been key to the success of NBS programs during the pandemic. In addition, we found that NBS programs need to be identified by the federal and state governments as essential services and their staff need to be classified as essential. This is critically important, not just now during the COVID-19 pandemic, but for future public health emergencies as well,” Broadbridge said.

She and her colleagues also found that the collection of specimens has been hampered during the pandemic. Specimens collected from babies who are less than 24 hours old are not optimal for testing for disorders such as congenital hypothyroidism, congenital adrenal hyperplasia, and cystic fibrosis. However, during the pandemic, specimens were being collected from babies who were less than 24 hours old to accommodate the need to discharge mothers and babies from hospitals as soon as possible. Therefore, in New York State, tests needed to be repeated in some cases, creating additional work for an already limited number of staff.

Courier services also created issues, Broadbridge said. “The courier system is a vital part of NBS timeliness, ensuring that the specimens are delivered to the laboratory in a suitable time frame. During the pandemic, courier staff in all three states experienced multiple issues such as not being allowed at standard pick-up locations within the hospital, general transport delays due to increased shipping demands nationwide, and increased COVID-19-related pickups.”

Ensuring each NBS program had enough testing supplies was also challenging, Broadbridge said, explaining that screening newborns for rare diseases requires a vast number of supplies, reagents, kits, and consumables as well as various chemicals. During the pandemic, issues with production and transportation led to delays in receiving needed supplies. An added complication was that NBS laboratories were competing with laboratories performing COVID-19 testing for supplies such as gloves, tips, and PCR plates.”

“Despite being low resourced and understaffed, American NBS programs were able to pivot their practices and find creative solutions. This was due to the dedicated staff within each of those programs who made those individual calls and individual connections, working on a one-issue-at a-time basis to make newborn screening happen,” Broadbridge said.

Discover more about the Ph.D. Program at the Rutgers School of Communication and Information on the website.