Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing.

IF 1.5 4区 医学 Q4 GENETICS & HEREDITY
Magan Trottier, Dina Green, Hannah Ovadia, Amanda Catchings, Julia Gruberg, Victoria Groner, Catherine Fanjoy, Sita Dandiker, Kathleen Blazer, Jada G Hamilton, Kenneth Offit
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Abstract

Background: Consumer genomic testing (CGT), including direct-to-consumer and consumer-initiated testing, is increasingly widespread yet has limited regulatory oversight. To assess the current state, we surveyed genetics healthcare providers' experiences with CGT.

Methods: A retrospective survey about experiences counseling on CGT results was completed by 139 respondents recruited from the National Society of Genetic Counselors, Clinical Cancer Genomics Community of Practice, and genetics professional societies.

Results: Among respondents, 41% disagreed with the statement that potential benefits of CGT outweigh harms, 21% agreed, and 38% were undecided. A total of 94% encountered ≥1 challenge counseling CGT patients, including adverse psychosocial events (76%), incorrect variant interpretation (68%), and unconfirmed results (69%); unconfirmed results were more common among oncology providers (p = 0.03). Providers reporting higher total challenge scores (p = 0.004) or more psychosocial or interpretation challenges (p ≤ 0.01) were more likely to indicate CGT harms outweigh benefits. Those with higher CGT clinical volume were more likely to indicate benefits outweigh harms (p = 0.003). Additional CGT challenges included patient understanding and communication of results, false negatives, incorrect testing/care, and financial costs; seven respondents (6%) documented positive outcomes.

Conclusion: Providers counseling CGT patients encounter psychosocial and medical challenges. Collaborations between regulators, CGT laboratories, providers, and consumers may help mitigate risks.

遗传学医疗服务提供者就消费者基因组检测结果为患者提供咨询服务的经验。
背景:消费者基因组检测(CGT),包括直接面向消费者的检测和消费者发起的检测,正在日益普及,但监管力度有限。为了评估现状,我们调查了遗传学医疗服务提供者对 CGT 的经验:从全国遗传咨询师协会、临床癌症基因组学实践社区和遗传学专业协会招募的 139 名受访者完成了一项关于 CGT 结果咨询经验的回顾性调查:在受访者中,41% 的人不同意 CGT 潜在益处大于危害的说法,21% 的人同意,38% 的人未置可否。94%的受访者在为CGT患者提供咨询时遇到过≥1次挑战,包括不良社会心理事件(76%)、不正确的变异解释(68%)和未经证实的结果(69%);未经证实的结果在肿瘤科医疗人员中更为常见(p = 0.03)。报告挑战总分较高 (p = 0.004) 或社会心理或解释挑战较多 (p ≤ 0.01) 的医疗服务提供者更有可能表示 CGT 弊大于利。CGT临床量较高者更有可能表示利大于弊(p = 0.003)。CGT面临的其他挑战包括患者对结果的理解和沟通、假阴性、不正确的检测/护理和经济成本;7名受访者(6%)记录了积极的结果:结论:为 CGT 患者提供咨询服务的医疗人员会遇到社会心理和医疗方面的挑战。监管机构、CGT 实验室、医疗服务提供者和消费者之间的合作可能有助于降低风险。
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来源期刊
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
4.20
自引率
0.00%
发文量
241
审稿时长
14 weeks
期刊介绍: Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.
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