Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants
Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants
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将个体基因组结果返回给具有 BRCA1/2 致病变异的基于人群的队列研究参与者
DOI：
10.1007/s12282-022-01404-7
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发表时间：
2022
期刊：
影响因子：
4
通讯作者：
Yamamoto Masayuki
中科院分区：
文献类型：
--
作者：
Ohneda Kinuko;Hamanaka Yohei;Kawame Hiroshi;Fuse Nobuo;Nagami Fuji;Suzuki Yoichi;Yamaguchi-Kabata Yumi;Shimada Muneaki;Masamune Atsushi;Aoki Yoko;Ishida Takanori;Yamamoto Masayuki
背景人类基因组研究的最新进展为基因型-表型关联、致病性、变异的临床可操作性以及疾病的基因组风险预测提供了证据。然而，将个体基因组结果返回给健康个体充满了伦理和实际的复杂性。 方法将个体基因组结果返回给东北医疗大银行队列研究参与者的 BRCA1/2 致病性变异 (PV) 携带者，并提供有关遗传性乳腺癌和卵巢癌综合征 (HBOC) 的信息。在研究之前，包括 9 名 BRCA1/2 PV 携带者在内的 180 名参与者被询问他们是否愿意接受个体基因组结果，但没有透露基因名称和相关疾病。在 142 名做出回应的参与者中，有 103 人表示愿意了解自己的基因组信息。同意参与该研究的六名 BRCA1/2 PV 携带者均亲自收到了有关 HBOC 的信息，并接受了血液重采样的验证测试。 结果所有参与者均为 60 多岁或 70 多岁；这四名女性和两名男性中，两人有乳腺癌病史，五人有 HBOC 相关癌症家族史。所有参与者都对这一信息表示赞赏，并且没有因返回而产生显着的负面心理影响，并打算接受临床风险监测。 5名参与者在接受结果时由家人陪同，3名一级女性亲属希望在医院接受基因组检测。结论我们的结果表明，在基于人群的基因组队列研究中向参与者返回可操作的基因组信息有利于预防或对相关疾病提供早期干预。
BackgroundRecent advances in human genome research have provided evidence for genotype–phenotype associations, pathogenicity, and clinical actionability of variants and genomic risk prediction of disease. However, the return of individual genomic results to healthy individuals is fraught with ethical and practical complexity.MethodsIndividual genomic results were returned to BRCA1/2 pathogenic variant (PV) carriers of the Tohoku Medical Megabank cohort study participants with an information on hereditary breast and ovarian cancer syndrome (HBOC). One hundred and eighty participants, including 9 BRCA1/2 PV carriers, were asked about their willingness to receive individual genomic results, without revealing the gene name and related disorders, prior to the study. Of the 142 participants who responded, 103 showed willingness to know their genomic information. Each of the six BRCA1/2 PV carriers who consented to participate in the study received information about HBOC in person and underwent validation testing with blood resampling.ResultsAll participants were in their 60s or 70s; of the four females and two males, two had a history of breast cancer and five had a family history of HBOC-related cancers. All participants appreciated the information, without remarkable negative psychological impact of the return, and intended to undergo clinical risk surveillance. Five participants were accompanied by family members while receiving the results, and three first-degree female relatives wished to undergo genomic testing at the hospital.ConclusionsOur results suggest that returning actionable genomic information to participants in a population-based genome cohort study is beneficial for preventing or providing early-stage intervention for associated diseases.
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DOI：
10.1056/nejmsr1809937
发表时间：
2019-08-15
期刊：
The New England journal of medicine
影响因子：
--
作者：
All of Us Research Program Investigators;Denny JC;Rutter JL;Goldstein DB;Philippakis A;Smoller JW;Jenkins G;Dishman E
通讯作者：
Dishman E
影响因子：
6.4
作者：
Heemskerk-Gerritsen, Bernadette A. M.;Rookus, Matti A.;Seynaeve, Caroline
通讯作者：
Seynaeve, Caroline
山本浩：J.Am.Chem.Soc。
DOI：
--
发表时间：
--
期刊：
影响因子：
--
作者：
通讯作者：
--
影响因子：
1.9
作者：
Asukai, N;Kato, H;Nishizono-Maher, A
通讯作者：
Nishizono-Maher, A
DOI：
10.31662/jmaj.2019-0014
发表时间：
2019-09-04
期刊：
JMA journal
影响因子：
--
作者：
Fuse N;Sakurai-Yageta M;Katsuoka F;Danjoh I;Shimizu R;Tamiya G;Nagami F;Kawame H;Higuchi S;Kinoshita K;Kure S;Yamamoto M
通讯作者：
Yamamoto M