Health care providers' perceptions of screening for risk of type 1 diabetes in newborns using genetic risk scores.

To explore health care providers’ perceptions of using polygenic risk scores (PRS) to screen newborns for the risk of developing type 1 diabetes (T1D) prior to its implementation in Early Check, an expanded newborn screening program in North Carolina (NC), an online survey was conducted with pediatric providers in NC followed by interviews with a subset of providers who responded to the survey. Forty-eight providers completed the survey, and 14 participated in an interview. Participants identified improved health outcomes, provider decision-making, and parental decision-making as the primary potential benefits of screening for risk of T1D. Increased parental anxiety, insufficient provider knowledge, and out-of-pocket expenses for families were described as significant potential barriers. Participants requested tools for educating parents on screening and results, guidelines for follow-up and when to refer to a specialist, and access to a genetic counselor for questions. Participants were generally supportive of screening for T1D risk using PRS, though barriers need to be addressed to optimize the practice for widespread clinical use. This study fills a gap in the literature related to providers’ attitudes and perspectives on screening for T1D using PRS in newborns.