Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative.
Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative.
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DOI：
10.3390/jpm12091511
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发表时间：
2022-09-15
影响因子：
--
通讯作者：
Buchanan, Adam H.
中科院分区：
文献类型：
--
作者：
Baker, Anna;Tolwinski, Kasia;Atondo, Jamie;Davis, F. Daniel;Goehringer, Jessica;Jones, Laney K.;Pisieczko, Cassandra J.;Sturm, Amy C.;Williams, Janet L.;Williams, Marc S.;Rahm, Alanna Kulchak;Buchanan, Adam H.
了解通过群体基因组筛查获得遗传结果的个体经历对于推进临床应用和改善群体健康至关重要。我们对通过MyCode©基因组筛查和咨询计划获得临床可操作遗传结果的个人进行了定性访谈。我们有目的地对队列进行抽样，以寻求结果相关疾病风险的多样性（例如，癌症或心血管疾病）和相关疾病的个人或家族史。成绩单进行了分析，使用两步归纳编码过程中的广泛的主题分析，然后在每个主题的深入编码。四个主题领域确定在所有的队列进行了检查：过程评估，心理反应，行为变化，由于遗传的结果，和家庭沟通。编码63个访谈60名参与者中发现，参与者满意的结果披露过程中，最初经历了一系列积极的，中性的，和消极的心理反应的结果，随着时间的推移积极调整的结果，采取临床指示的行动，以响应结果，并与亲属沟通的结果，他们觉得情感上接近。我们的研究结果，通过基因组筛选程序接收临床可操作的遗传结果的普遍有利的反应，可以减轻患者痛苦的恐惧，在这样的程序和指导更多的生物库，基因组筛选程序和研究。
Understanding unselected individuals’ experiences receiving genetic results through population genomic screening is critical to advancing clinical utility and improving population health. We conducted qualitative interviews with individuals who received clinically actionable genetic results via the MyCode© Genomic Screening and Counseling program. We purposively sampled cohorts to seek diversity in result-related disease risk (e.g., cancer or cardiovascular) and in personal or family history of related diseases. Transcripts were analyzed using a two-step inductive coding process of broad thematic analysis followed by in-depth coding of each theme. Four thematic domains identified across all cohorts were examined: process assessment, psychosocial response, behavioral change due to the genetic result, and family communication. Coding of 63 interviews among 60 participants revealed that participants were satisfied with the results disclosure process, initially experienced a range of positive, neutral, and negative psychological reactions to results, adjusted positively to results over time, undertook clinically indicated actions in response to results, and communicated results with relatives to whom they felt emotionally close. Our findings of generally favorable responses to receiving clinically actionable genetic results via a genomic screening program may assuage fear of patient distress in such programs and guide additional biobanks, genomic screening programs, and research studies.
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DOI：
10.1038/gim.2013.73
发表时间：
2013-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
--
DOI：
10.1038/gim.2015.187
发表时间：
2016-09
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Carey DJ;Fetterolf SN;Davis FD;Faucett WA;Kirchner HL;Mirshahi U;Murray MF;Smelser DT;Gerhard GS;Ledbetter DH
通讯作者：
Ledbetter DH
影响因子：
7.4
作者：
Jones, Laney K.;Rahm, Alanna Kulchak;Murray, Michael F.
通讯作者：
Murray, Michael F.
影响因子：
4.1
作者：
Hadjistavropoulos, HD;Craig, KD;Hadjistavropoulos, T
通讯作者：
Hadjistavropoulos, T
影响因子：
8.8
作者：
Kalia, Sarah S.;Adelman, Kathy;Miller, David T.
通讯作者：
Miller, David T.