Survey explores provider SCID knowledge

Though every newborn in the United States is screened for severe combined immunodeficiency (SCID), healthcare providers, even those who have experience treating SCID, exhibit gaps in knowledge about how to manage this rare, life-threatening primary immunodeficiency (PI), according to an article in Frontiers in Pediatrics.

Published in February 2022, the article, entitled “Severe Combined Immunodeficiency: Knowledge and Information Needs Among Healthcare Providers," explains the results of a survey conducted by the Immune Deficiency Foundation’s SCID Compass program and its partners, including SCID Angels for Life and RTI International. The survey evaluates U.S. healthcare providers’ knowledge about the management of patients with SCID and is the first of its kind ever conducted.

The SCID Compass survey, completed online by 244 healthcare providers, asked questions about providers’ experience with SCID patients, knowledge about SCID, and the type of SCID-related educational resources they would prefer.

The survey found that those providers who had treated only one or no patients with SCID — a cohort comprised primarily of pediatricians along with family medicine providers, nurse practitioners, genetic counselors, and physician assistants — had a variety of informational needs, including:

• Interpreting screening results

• Understanding the different types of SCID

• Understanding SCID treatment options

• Making appropriate specialist referrals

• Knowing how SCID impacts the child's future

“Pediatricians are often parents' first point of contact for SCID newborn screening results. It is important for pediatricians to have a strong knowledge of SCID to deliver clear communication to parents,” according to the article.

Those providers who had treated two or more patients with SCID — a group comprised mostly of allergists/immunologists — had fewer needs but still expressed that they wanted more information about managing SCID, specifically when referring parents to support services and overseeing patients post-treatment.

Both groups of providers said they would prefer to familiarize themselves with SCID-related topics by reading peer-reviewed scientific publications and by visiting websites.

“Given that providers in our study expressed concerns about locating SCID informational resources, there may be a need to increase education among medical providers on available informational resources for rare genetic diseases, including SCID,” according to the article.

“Availability of resources that are easily accessible, trustworthy, and user-friendly is vital to improving and maintaining providers' knowledge of SCID and increasing their comfort in treating patients with SCID.”

Babies with SCID are born with little to no functioning immune system, making them vulnerable to infections. SCID is fatal if it is not treated within the first few months of life. Accepted treatment is bone marrow transplant; families may also choose to treat the baby with gene therapy which is still in clinical trials.

Newborn screening for SCID was instituted in all 50 states in 2018, greatly increasing the chances of survival of babies with SCID. However, as the survey and subsequent article demonstrate, providers continue to require resources related to care for babies with SCID, which is considered a pediatric emergency.

Read the full article.