Purpose

Efforts have been made to standardize laboratory variant interpretation, but clinicians are ultimately tasked with clinical correlation and application of genetic test results in patient care. This study aimed to explore processes clinicians utilize when reviewing and returning genetic test results, and how they impact patient care.

Methods

Medical geneticists, genetic counselors, and nongenetics clinicians from two Midwestern states completed surveys (n = 98) and in-depth interviews (n = 29) on practices of reviewing and returning genetic test results. Retrospective chart review (n = 130) examined discordant interpretations and the impact on care.

Results

Participants reported variable behaviors in both reviewing and returning results based on factors such as confidence, view of role, practice setting, and relationship with the lab. Providers did not report requesting changes to variant classifications from laboratories, but indicated relaying conflicting classifications to patients in some cases. Chart reviews revealed medically impactful differences in interpretation between laboratories and clinicians in 18 (13.8%) records.

Conclusion

Clinician practices for reviewing and integrating genetic test results into patient care vary within and between specialties and impact patient care. Strategies to better incorporate both laboratory and clinician expertise into interpretation of genetic results could result in improved care across providers and settings.

中文翻译：

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基因检测的挑战：临床医生变异解释过程和对临床护理的影响

目的

已经努力使实验室变异解释标准化，但临床医生最终的任务是临床相关性和基因检测结果在患者护理中的应用。本研究旨在探索临床医生在审查和返回基因检测结果时使用的过程，以及它们如何影响患者护理。

方法

来自中西部两个州的医学遗传学家、遗传咨询师和非遗传学临床医生完成了关于审查和返回基因检测结果的做法的调查 ( n  = 98) 和深入访谈 ( n  = 29)。回顾性图表审查 ( n  = 130) 检查了不一致的解释和对护理的影响。

结果

参与者根据信心、角色观点、实践环境和与实验室的关系等因素报告了在审查和返回结果时的可变行为。提供者没有报告要求实验室更改变异分类，但表示在某些情况下将相互冲突的分类转发给患者。图表审查揭示了 18 条 (13.8%) 记录中实验室和临床医生之间在解释方面的医学影响差异。

结论

临床医生审查基因检测结果并将其整合到患者护理中的做法在专业内部和专业之间有所不同，并影响患者护理。将实验室和临床医生的专业知识更好地纳入遗传结果解释的策略可能会改善提供者和环境的护理。