Over 40% of pediatricians reported they were unprepared to talk about newborn screening results with families ( 7).

A survey of pediatric residents in the US reported that 56% were not aware of appropriate follow-up for abnormal newborn screening results ( 6). Despite the expansion of newborn screening, there is a gap in knowledge among healthcare providers about the management of rare genetic conditions like SCID. SCID is considered a rare disease, with an estimated prevalence of 1 in 58,000 births ( 1, 5).īefore the implementation of nationwide newborn screening for SCID in 2018, clinical diagnosis often was delayed due to absence of family history and lack of distinguishing symptomology at birth. Today, early identification and treatment are effective at reducing SCID-related morbidity and mortality ( 1, 2, 4). Without immune reconstituting treatments, patients diagnosed with SCID do not survive infancy ( 3).

Patients with SCID have a deficiency or absence of T-cells and are highly susceptible to opportunistic and recurrent infections. Severe combined immunodeficiency (SCID) is a group of genetic disorders characterized by defects in cellular and humoral immunity ( 1, 2). Results from this study will serve as a guide for creating relevant and accessible SCID resources for providers who can utilize them to improve care for SCID patients. These findings provide useful direction for the development and preferred outlets for receiving SCID-related information, with some variations between different types of providers. For providers who have encountered few SCID patients, informational needs start early, usually immediately after receiving a positive newborn screening result. The largest informational needs identified by the non-SCID provider group were “understanding specific type of SCID” and “understanding what to expect across the lifespan.” In the SCID provider group, the highest rated informational need was “family support referrals.” Participants in the non-SCID provider group identified scientific publications and websites as preferred formats, with some variation between medical specialties.Ĭonclusion: Based on their experience with treating SCID patients, providers have varying levels of SCID knowledge and different informational needs. x̄ = 8.6, p < 0.0001) and higher informational needs. Compared to the SCID provider group, non-SCID provider group reported lower mean rating of SCID knowledge (x̄ = 4.8 vs. Results: Overall, 210 (75.8%) providers were included in the non-SCID provider group, and 121 (57.6%) of these providers were pediatricians. We examined differences between providers who have seen 2 or more patients with SCID (SCID provider group) and those who have seen 0–1 SCID patients (non-SCID provider group). The survey assessed providers' experience with SCID patients, knowledge about SCID, and needs and preferred formats for SCID-related informational resources. healthcare providers for an online survey. Despite the expansion of newborn screening in the U.S., there are gaps in healthcare providers' knowledge of SCID. 2Immune Deficiency Foundation, Towson, MD, United Statesīackground: Severe combined immunodeficiency (SCID) is a group of life-threatening genetic disorders responsible for severe dysfunctions of the immune system.1GenOmics, Bioinformatics, and Translational Research Center, RTI International, Research Triangle Park, NC, United States.Oksana Kutsa 1, Angela Gwaltney 1, Alissa Creamer 2 and Melissa Raspa 1 *

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