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基层医疗中管理二级基因组检测结果的挑战和实用解决方案。

Challenges and practical solutions for managing secondary genomic findings in primary care.

机构信息

University of Toronto, Toronto, Ontario, Canada; The Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada.

University of Toronto, Toronto, Ontario, Canada; Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.

出版信息

Eur J Med Genet. 2022 Jan;65(1):104384. doi: 10.1016/j.ejmg.2021.104384. Epub 2021 Nov 9.

Abstract

Primary care providers will increasingly be tasked with managing most secondary findings from genomic sequencing, but literature exploring their capacity to manage findings beyond conventional genetic testing is limited. This study aimed to explore primary care providers' challenges and potential solutions for managing secondary findings. Providers were recruited in two groups. Group 1 providers had a patient in their practice who received secondary findings and all potential group 1 providers were invited to participate. Group 2 providers were provided with the secondary findings of a hypothetical patient and were purposefully sampled for maximal variation in sex, practice setting, and geographic location. Providers were interviewed about their challenges and solutions managing secondary findings from a patient in their practice or a hypothetical patient. Using interpretive description methodology, transcripts were analysed thematically complemented by constant comparison. Out of the fifty-five providers invited, 15 family physicians participated across community and academic settings in Ontario, Canada (range 6-40 years in practice; 10/15 female). Providers described a responsibility to manage secondary findings, but limited capacity for this, describing practice, knowledge, and technical challenges. Providers expressed concern that compared to other incidental findings, secondary genomic findings might be reported directly to patients and result in longer-term anxiety. Potential solutions were a structured letter with categorized results and summary tables highlighting key secondary findings with follow-up recommendations and resources, as well as electronic medical records (EMRs) that store and integrate genomic information for prescribing or referrals. These solutions were deemed essential to address knowledge and technical challenges faced by primary care physicians and ultimately promote clinical utility of secondary findings.

摘要

初级保健提供者将越来越多地负责管理大多数来自基因组测序的次要发现,但探索他们管理超出传统遗传测试范围的发现的能力的文献有限。本研究旨在探讨初级保健提供者在管理次要发现方面面临的挑战和潜在解决方案。招募了两组提供者。第 1 组提供者在其诊所中有接受次要发现的患者,并且邀请了所有可能的第 1 组提供者参加。第 2 组提供者提供了一个假设患者的次要发现,并根据性别、实践环境和地理位置的最大变化进行了有目的的抽样。对提供者进行了关于管理实践中的患者或假设患者的次要发现的挑战和解决方案的访谈。使用解释性描述方法,对转录本进行了主题分析,并辅以恒定比较。在邀请的 55 名提供者中,有 15 名家庭医生来自加拿大安大略省的社区和学术环境(实践年限 6-40 年;10/15 名女性)。提供者描述了对管理次要发现的责任,但能力有限,描述了实践、知识和技术方面的挑战。提供者表示担心,与其他偶然发现相比,次要基因组发现可能会直接报告给患者,并导致长期焦虑。潜在的解决方案是一封带有分类结果的结构化信件,以及带有关键次要发现摘要表的总结表,突出关键次要发现,并附有随访建议和资源,以及存储和整合基因组信息用于处方或转介的电子病历 (EMR)。这些解决方案被认为是解决初级保健医生面临的知识和技术挑战的关键,最终促进次要发现的临床应用。

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