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J Genet Couns. 2019 Aug 30. doi: 10.1002/jgc4.1163. [Epub ahead of print]

Primary care physicians' understanding and utilization of pediatric exome sequencing results.

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Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, Ohio.
Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.
Division of Pediatric Genetics, University of Michigan, Ann Arbor, Michigan.


Optimizing exome sequencing (ES) utility requires effective communication and collaboration between primary care physicians (PCPs) and genetics healthcare providers (GHP). To explore how PCPs use ES results to coordinate multipart management plans for complex pediatric patients, we assessed result understanding and utilization. Twenty-seven PCPs of pediatric patients with ES results from a genetics clinic completed a mixed methods 45-question survey measuring perceived genetics knowledge, confidence performing genetics tasks, understanding of ES technology and results, and expectations of GHP. Quantitative and qualitative data analysis classified by ES result types generated descriptive statistics, Pearson correlation coefficients, and common themes. Forty-five-percent of PCPs interpreted variant of uncertain significance results as diagnostic (implementing management changes and recommending familial testing). Most PCPs (85%) identified positive ES results impacts, but only 65% indicated ES was beneficial to care. The majority (74%) expected GHP and patients' families to assume follow-up care responsibility and future ES results re-interpretations. Limited knowledge may be a factor, as 59% desired more patient care information from GHP. Our results suggest optimizing continuity of care and collaboration for pediatric patients with ES results requires additional communication between GHP and PCPs, along with continuing genetics education for PCPs aimed at improving genetic literacy.


exome sequencing; genetics; genetics services; pediatric genetics; pediatrics; primary care; provider communication


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