Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study.
Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study.
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DOI：
10.1038/s41431-018-0106-6
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发表时间：
2018-05
期刊：
影响因子：
--
通讯作者：
Ormondroyd E
中科院分区：
文献类型：
--
作者：
Mackley MP;Blair E;Parker M;Taylor JC;Watkins H;Ormondroyd E
随着大规模基因组测序计划的进行，大量的基因组数据正在生成。结果-包括次要结果（SF）-正在返回，尽管围绕生成和管理的政策仍然不一致。为了告知相关政策，必须考虑利益相关者的观点，包括自更广泛的辩论开始以来就对SF做出决定的参与者。我们对16名参加基因组测序的罕见病患者和父母进行了半结构化访谈，以探讨对SF的看法。通过与医疗保健系统的广泛接触，受访者对基因检测表现出高度的理解，并持有务实的观点：许多人满足于不知道SF。受访者对系统和医疗服务提供者表示信任，并对有限的资源表示赞赏;认识到现有的疾病负担，许多人宁愿专注于他们的主要病情。许多人表现出对重新联系的期望，并假设以后有可能获得最初拒绝的SF。在缺乏这种基础设施的情况下，重要的是要划定重新接触的责任，解决期望，并在同意过程中明确决策的长期影响。此外，一些受访者表现出流体对SF的看法，并建议，看法可能会受到家族史的影响。需要进一步研究SF和披露的行为影响的变化的可取性，并应考虑发展和引进的机制，以应对患者的意见变化。
With large-scale genome sequencing initiatives underway, vast amounts of genomic data are being generated. Results—including secondary findings (SF)—are being returned, although policies around generation and management remain inconsistent. In order to inform relevant policy, it is essential that the views of stakeholders be considered—including participants who have made decisions about SF since the wider debate began. We conducted semi-structured interviews with sixteen rare disease patients and parents enroled in genome sequencing to explore views towards SF. Informed by extensive contact with the healthcare system, interviewees demonstrated high levels of understanding of genetic testing and held pragmatic views: many are content not knowing SF. Interviewees expressed trust in the system and healthcare providers, as well as an appreciation of limited resources; acknowledging existing disease burden, many preferred to focus on their primary condition. Many demonstrated an expectation for recontact and assumed the possibility of later access to initially declined SF. In the absence of such an infrastructure, it is important that responsibilities for recontact are delineated, expectations are addressed, and the long-term impact of decisions is made clear during consent. In addition, some interviewees demonstrated fluid views towards SF, and suggestions were made that perceptions may be influenced by family history. Further research into the changing desirability of SF and behavioural impact of disclosure are needed, and the development and introduction of mechanisms to respond to changes in patient views should be considered.
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影响因子：
3.5
作者：
Kaphingst KA;Ivanovich J;Biesecker BB;Dresser R;Seo J;Dressler LG;Goodfellow PJ;Goodman MS
通讯作者：
Goodman MS
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：
4
作者：
Boycott K;Hartley T;Adam S;Bernier F;Chong K;Fernandez BA;Friedman JM;Geraghty MT;Hume S;Knoppers BM;Laberge AM;Majewski J;Mendoza-Londono R;Meyn MS;Michaud JL;Nelson TN;Richer J;Sadikovic B;Skidmore DL;Stockley T;Taylor S;van Karnebeek C;Zawati MH;Lauzon J;Armour CM;Canadian College of Medical Geneticists
通讯作者：
Canadian College of Medical Geneticists
影响因子：
3.9
作者：
Rolland, JS;Williams, JK
通讯作者：
Williams, JK
影响因子：
1.7
作者：
Fernandez, Conrad V.;O'Connell, Colleen;McMaster, Christopher R.
通讯作者：
McMaster, Christopher R.