Improving SCID newborn screening

State public health laboratories could benefit from making improvements in how they proceed after determining positive newborn screening (NBS) results for severe combined immunodeficiency (SCID), according to a research article in the medical journal Frontiers in Immunology. SCID is characterized by a lack of T cells which leaves babies vulnerable to fatal infections. NBS is crucial for babies with SCID as early diagnosis and treatment saves lives.

Members of the Immune Deficiency Foundation’s SCID Compass team along with the representatives from the Association of Public Health Laboratories (APHL) authored the article, entitled “The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices.”

Published in October, the article examines the variations in the state lab’s processes for:

• Sharing SCID NBS results with stakeholders including healthcare providers.
• Providing SCID educational materials to both healthcare providers and parents.
• Maintaining a follow-up program to determine outcomes for babies with SCID.

In order to collect the data needed for the article, APHL, in partnership with IDF, surveyed 53 public health NBS system laboratories and follow-up coordinators. The online survey took place between November 2019 and January 2020.

Answers to queries concerning communication pathways showed that while primary care providers and immunologists are commonly notified by NBS programs about out-of-range SCID NBS results, less than half of NBS programs shared results with hospitals, and 16 percent of NBS programs only notified one stakeholder. Increasing the number of healthcare providers notified can improve access to effective counseling and appropriate care over time, stated the article.

“These survey results suggest that there are opportunities to expand notification of results to multiple stakeholders and to perform education to ensure patients are successfully connected to ongoing care,” said the article.

The article also explained that because the addition of SCID to the NBS panel is fairly recent, required of all states as of 2018, deficits in educational materials exist. Suggested avenues to educate providers, parents and the public about SCID include webinars, fact sheets, brochures, newsletters, videos, presentations, conference exhibits, and awareness weeks.

Performing long-term follow-up is also challenging for NBS programs, as the survey showed that less than half of all NBS programs are following patients after they receive a confirmed diagnosis of SCID. Being sure to follow-up with SCID cases provides better outcomes for infants, and helps identify areas in which additional resources are needed. The shortcomings are due to a lack of coordinated efforts and limited funding, explained the article.

The article concluded by offering a comprehensive view of areas that could be improved in SCID NBS.

“This paper reveals opportunities to enhance the SCID NBS system by expanding communication pathways and educational outreach and establishing more formal long-term follow-up. As SCID NBS programs and treatments evolve, continued knowledge dissemination regarding lessons learned will further enable programs like SCID Compass to enhance linkages between families and services and to further elaborate long-term follow-up strategies for infants identified through NBS,” stated the article.