Comprehension and personal value of negative non-diagnostic genetic panel testing.
Comprehension and personal value of negative non-diagnostic genetic panel testing.
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DOI：
10.1002/jgc4.1327
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发表时间：
2021-04
影响因子：
1.9
通讯作者：
Smith ME
中科院分区：
文献类型：
--
作者：
Hoell C;Aufox S;Nashawaty N;Myers MF;Smith ME
公众对基因检测的兴趣和追求与日俱增，这引发了他们对其结果的理解和使用的担忧。虽然大多数研究都集中在接受阳性基因检测结果的个人，但评估接受阴性基因检测结果的理解和效用的调查有限。接受阴性(或缺乏信息)基因检测结果的个人可能不会意识到基因检测的局限性及其残留的疾病风险。这项研究的目的是探索参与者对阴性的非诊断性基因测试结果的理解和感知的有效性。我们对西北大学电子病历和基因组网络(Emerge)测试小组收到非诊断性基因测试阴性结果的参与者进行了半结构化采访。共有17名参与者接受了采访。虽然许多人表示对遗传学以及基因、疾病和环境之间的关系缺乏了解，但大多数人承认，他们存在出现健康问题的残余风险，应该继续进行常规的健康管理。此外，参与者表示，他们的负面结果具有个人价值，可以让他们安心，了解更多关于他们自己和他们的健康的知识。参与者没有预料到结果会对他们的生活方式产生影响，但他们认为结果有助于与医生分享，并可能为未来的基因测试决策提供信息。虽然大多数参与者都是积极的，但一些参与者对没有了解到更多个性化的结果感到失望。虽然有必要进行更彻底的探索，但这项研究的发现可以帮助努力改进或创新基因组测试的知情同意，以及可扩展的结果返回模式，以促进对阴性基因测试的理解。
Increasing interest and pursuit of genetic testing by the general public have raised concerns about their understanding and use of their results. While most research has focused on individuals receiving positive genetic test results, there have been limited investigations assessing the understanding and utility of receiving negative genetic test results. Individuals who receive a negative (or uninformative) genetic test result may not appreciate the limitations of genetic testing and their residual disease risk. The goals of this study were to explore participant understanding and perceived utility of negative non-diagnostic genetic test results. We conducted semi-structured interviews with participants who received negative non-diagnostic genetic test results from the electronic Medical Records and Genomics Network (eMERGE) testing panel at Northwestern University. A total of 17 participants were interviewed. While many expressed a lack of understanding of genetics and the relationship between genes, disease, and environment, most acknowledged that they had residual risk to develop a health problem and should continue with their routine health management. Additionally, participants expressed that their negative results had personal value, by providing them peace of mind and learning additional knowledge about themselves and their health. Participants did not anticipate that results would have an impact on their lifestyle, but felt the results were useful for sharing with their physician and could inform future genetic testing decisions. While mostly positive, some participants were disappointed not to learn more individualized results. While a more thorough exploration is necessary, findings in this study can aid efforts to improve or innovate informed consent for genomic testing, as well as scalable modes of result return that foster comprehension following negative genetic testing.
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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：
--
影响因子：
1.9
作者：
Nightingale, Brooke M.;Hovick, Shelly R.;Morales, Ana
通讯作者：
Morales, Ana
DOI：
10.1038/gim.2012.22
发表时间：
2012-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
1.7
作者：
Ostergren JE;Gornick MC;Carere DA;Kalia SS;Uhlmann WR;Ruffin MT;Mountain JL;Green RC;Roberts JS;PGen Study Group
通讯作者：
PGen Study Group
影响因子：
1.9
作者：
Su, Yeyang;Howard, Heidi C.;Borry, Pascal
通讯作者：
Borry, Pascal