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Primary care physicians' understanding and utilization of pediatric exome sequencing results
Sarah E Mazzola1,2, Bridget O'Connor3, Beverly M Yashar2
1Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, Ohio.
Insights
Primary care physicians often misinterpret exome sequencing (ES) results, impacting pediatric patient care. Enhanced genetics education and communication between genetics healthcare providers (GHPs) and PCPs are crucial for optimizing ES utility.
Area of Science:
- Genetics
- Pediatric Medicine
- Healthcare Communication
Background:
- Exome sequencing (ES) is increasingly used in pediatrics.
- Effective collaboration between primary care physicians (PCPs) and genetics healthcare providers (GHPs) is vital for interpreting ES results.
- Understanding PCP utilization of ES results is key to improving care coordination.
Purpose of the Study:
- To explore how PCPs utilize exome sequencing results for complex pediatric patients.
- To assess PCP understanding of ES technology and results.
- To evaluate PCP expectations of GHP roles in managing ES findings.
Main Methods:
- A mixed-methods survey was administered to 27 PCPs managing pediatric patients with ES results.
- The survey assessed PCP genetics knowledge, confidence, ES understanding, and GHP expectations.
- Data were analyzed quantitatively and qualitatively, categorized by ES result types.
Main Results:
- 45% of PCPs incorrectly interpreted variant of uncertain significance results as diagnostic.
- While 85% recognized positive ES impacts, only 65% found ES beneficial.
- 74% expected GHPs and families to manage follow-up and re-interpretation of ES results.
Conclusions:
- PCPs demonstrate gaps in understanding and utilizing exome sequencing results.
- Improved communication and targeted genetics education for PCPs are needed.
- Enhanced collaboration between PCPs and GHPs is essential for optimal pediatric care with ES.
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.