Primary care physicians’ understanding and utilization of pediatric exome sequencing results

Abstract

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.

General practitioners’ (GPs) experience, attitudes and needs on clinical genetic services: a systematic review

“…Of the 62 final articles included, 36 studies were quantitative studies,27–62 13 were qualitative studies,3 63–74 9 were randomised controlled trials75–83 and 4 were mixed-methods study70 84–86 (online supplemental table 5). The selected studies were conducted in USA (n=20), UK (n=19), Canada (n=11), Australia (n=6), Asia (n=4), New Zealand (n=1) and South Africa (n=1).…”

“…Knowledge scores were found to be positively associated with comfort scores to perform genetic tasks and referrals. 86 Henceforth, minimal knowledge and lack of confidence may have discouraged GPs to feel comfortable to order genetic test 42 or adequate to provide genetic counselling. In concurrence, 65% of the 61 GPs surveyed felt that genetic counsellors, medical geneticists, or oncologists were more qualified to perform such tasks.…”

“…34 This sentiment was similarly highlighted in another study which reported 74% of the 27 GPs seeing it as others' duty to follow-up on genetic results. 86 On the contrary, only five studies found GPs to be fairly confident about their ability to determine the need for further evaluation based on family history, 53 with 74% of 271 GPs surveyed having had contact with patients with genetic disease weekly. 61 Two articles also reported that GPs frequently refer patients for cancer genetic testing 37 and conduct cancer family history consultation and risk assessment.…”

Lack of consensus among healthcare professionals at a large academic medical center on the use of exome sequencing for prenatal diagnosis

“…Gore et al's survey investigating challenges to informed consent for exome sequencing had a response rate of 9.3% (Gore et al, 2019). Niguidula et al and Mazzola et al's surveys on the topic of exome sequencing had response rates of 2.2% and 12.6% respectively (Mazzola et al, 2019; Niguidula et al, 2018). Further limitations of this survey include the potential for responder bias inherent in survey‐based studies and a lack of result generalizability.…”

Evaluation of Exome Sequencing Criteria for Hospital Stewardship and Insurance Authorization at a Pediatric Hospital

“…In a recent study surveying 27 primary care providers, 45% of them misinterpreted ''variant of uncertain significance'' results as diagnostic and inappropriately recommended familial cascade testing. 8 This is worrisome, especially because misinterpretation of laboratory test results is the second largest source of laboratory-related litigation in the ambulatory setting in the United States. 9 For these reasons, it is important that institutions establish clear guidelines for when ES may be valuable to help support appropriate stewardship of ES.…”