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一项关于2型糖尿病基因检测预期决策的定性研究:科学一致和不一致期望的作用

A Qualitative Study of Anticipated Decision Making around Type 2 Diabetes Genetic Testing: the Role of Scientifically Concordant and Discordant Expectations.

作者信息

Carmichael Alicia G, Hulswit Bailey B, Moe Emily J, Jayaratne Toby Epstein, Yashar Beverly M

机构信息

BioSocial Methods Collaborative, Research Center for Group Dynamics, Institute for Social Research, University of Michigan, 426 Thompson St, Ann Arbor, MI, 48109-1248, USA.

Center for Molecular Medicine and Genetics, Wayne State University, Detroit, MI, USA.

出版信息

J Genet Couns. 2017 Jun;26(3):469-479. doi: 10.1007/s10897-016-9999-9. Epub 2016 Jul 28.

Abstract

Type 2 diabetes mellitus (T2DM) genetic testing is undergoing clinical trials to measure the efficacy of genetic counseling for behavior-based risk reduction. The expectations patients bring to the testing process may play an important role in individual outcomes. We conducted a qualitative exploration of anticipated decision-making and expectations around T2DM genetic testing. Semi-structured interviews were completed with Mexican Americans (n = 34), non-Hispanic Black Americans (n = 39), and non-Hispanic White Americans (n = 39) at risk for T2DM. Transcripts were analyzed for themes. Most participants would accept T2DM genetic testing in order to motivate risk-reducing behaviors or apprise family members of their risk. Participants who would decline testing wished to avoid emotional distress or believed the test would not reveal new risk information. Non-Hispanic Whites and those with college education declined genetic testing more often than other groups. Those without college education were more likely to have testing expectations that were discordant with current science, such as conflating genetic testing with common 'blood tests.' Understanding expectations and decision-making factors around T2DM genetic testing will better prepare healthcare professionals to counsel their patients. This may lead to a higher efficacy of T2DM genetic testing and counseling.

摘要

2型糖尿病(T2DM)基因检测正在进行临床试验,以评估基于行为的风险降低的遗传咨询效果。患者在检测过程中的期望可能对个体结果起着重要作用。我们对T2DM基因检测的预期决策和期望进行了定性探索。对有T2DM风险的墨西哥裔美国人(n = 34)、非西班牙裔美国黑人(n = 39)和非西班牙裔美国白人(n = 39)进行了半结构化访谈。对访谈记录进行了主题分析。大多数参与者会接受T2DM基因检测,以激励降低风险的行为或告知家庭成员他们的风险。拒绝检测的参与者希望避免情绪困扰,或认为检测不会揭示新的风险信息。非西班牙裔白人以及受过大学教育的人比其他群体更常拒绝基因检测。未受过大学教育的人更有可能有与当前科学不一致的检测期望,例如将基因检测与普通的“血液检测”混为一谈。了解T2DM基因检测的期望和决策因素将使医疗保健专业人员更好地为患者提供咨询。这可能会提高T2DM基因检测和咨询的效果。

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