A pilot study for return of individual pharmacogenomic results to population-based cohort study participants

• 資料種別: 記事
• タイトル: A pilot study for return of individual pharmacogenomic results to population-based cohort study participants
• 著者・編者: Kinuko Ohneda; Masahiro Hiratsuka; Hiroshi Kawame; Fuji Nagami; Yoichi Suzuki; Kichiya Suzuki; Akira Uruno; Mika Sakurai-Yageta; Yohei Hamanaka; Makiko TairaSoichi Ogishima; Shinichi Kuriyama; Atsushi Hozawa; Hiroaki Tomita; Naoko Minegishi; Junichi Sugawara; Inaho Danjoh; Tomohiro Nakamura; Tomoko Kobayashi; Yumi Yamaguchi-Kabata; Shu Tadaka; Taku Obara; Eiji Hishimuma; Nariyasu Mano; Masaki Matsuura; Yuji Sato; Masateru Nakasone; Yohei Honkura; Jun Suzuki; Yukio Katori; Yoichi Kakuta; Atsushi Masamune; Yoko Aoki; Masaharu Nakayama; Shigeo Kure; Kengo Kinoshita; Nobuo Fuse; Masayuki Yamamoto
• 出版事項: 日本 : Japan Medical Association
• 出版年月日等: 2022-04-15
• 出版年（W3CDTF）: 2022-04-15
• タイトル（掲載誌）: JMA Journal
• 巻号年月日等（掲載誌）: 5(2)
• 掲載巻: 5(2)
• ISSN（掲載誌）: 2433-3298
• ISSN-L（掲載誌）: 2433-328X
• 本文の言語コード: eng
• DOI: 10.31662/jmaj.2021-0156; https://doi.org/10.31662/jmaj.2021-0156
• 国立国会図書館永続的識別子: info:ndljp/pid/14494905; https://dl.ndl.go.jp/pid/14494905
• コレクション（共通）: 障害者向け資料
• コレクション（障害者向け資料：レベル1）: テキストデータ
• コレクション（個別）: 国立国会図書館デジタルコレクション > 電子書籍・電子雑誌 > その他; https://dl.ndl.go.jp/collections/B00035
• 収集根拠: インターネット資料収集保存事業（WARP）
• 受理日（W3CDTF）: 2025-10-21T09:04:40+09:00
• 保存日（W3CDTF）: 2024-09-26
• 記録形式（IMT）: application/pdf
• オンライン閲覧公開範囲: インターネット公開
• 遠隔複写可否（NDL）: 不可
• 掲載誌（URI）: https://warp.da.ndl.go.jp/info:ndljp/pid/13747952/www.jmaj.jp/detail.php?id=10.31662%2Fjmaj.2021-0156
• 掲載誌（国立国会図書館永続的識別子）: info:ndljp/pid/14494903; https://dl.ndl.go.jp/pid/14494903
• 連携機関・データベース: 国立国会図書館 : 国立国会図書館デジタルコレクション; https://dl.ndl.go.jp

• 要約等: <p><b>Introduction:</b> Pharmacogenomic (PGx) testing results provide valuable information on drug selection and appropriate dosing, maximization of efficacy, and minimization of adverse effects. Although the number of large-scale, next-generation-sequencing-based PGx studies has recently increased, little is known about the risks and benefits of returning PGx results to ostensibly healthy individuals in research settings.</p><p><b>Methods:</b> Single-nucleotide variants of three actionable PGx genes, namely, <i>MT-RNR1</i>,<i> CYP2C19</i>, and <i>NUDT15</i>, were returned to 161 participants in a population-based Tohoku Medical Megabank project. Informed consent was obtained from the participants after a seminar on the outline of this study. The results were sent by mail alongside sealed information letter intended for clinicians. As an exception, genetic counseling was performed for the <i>MT-RNR1</i> m.1555A > G variant carriers by a medical geneticist, and consultation with an otolaryngologist was encouraged. Questionnaire surveys (QSs) were conducted five times to evaluate the participants' understanding of the topic, psychological impact, and attitude toward the study.</p><p><b>Results:</b> Whereas the majority of participants were unfamiliar with the term PGx, and none had undergone PGx testing before the study, more than 80% of the participants felt that they could acquire basic PGx knowledge sufficient to understand their genomic results and were satisfied with their potential benefit and use in future prescriptions. On the other hand, some felt that the PGx concepts or terminology was difficult to fully understand and suggested that in-person return of the results was desirable.</p><p><b>Conclusions:</b> These results collectively suggest possible benefits of returning preemptive PGx information to ostensibly healthy cohort participants in a research setting.</p>
• DOI: 10.31662/jmaj.2021-0156
• オンライン閲覧公開範囲: インターネット公開
• 連携機関・データベース: 科学技術振興機構 : J-STAGE; http://www.jstage.jst.go.jp

• 要約等: <p><b>Introduction:</b> Pharmacogenomic (PGx) testing results provide valuable information on drug selection and appropriate dosing, maximization of efficacy, and minimization of adverse effects. Although the number of large-scale, next-generation-sequencing-based PGx studies has recently increased, little is known about the risks and benefits of returning PGx results to ostensibly healthy individuals in research settings.</p><p><b>Methods:</b> Single-nucleotide variants of three actionable PGx genes, namely, <i>MT-RNR1</i>,<i> CYP2C19</i>, and <i>NUDT15</i>, were returned to 161 participants in a population-based Tohoku Medical Megabank project. Informed consent was obtained from the participants after a seminar on the outline of this study. The results were sent by mail alongside sealed information letter intended for clinicians. As an exception, genetic counseling was performed for the <i>MT-RNR1</i> m.1555A > G variant carriers by a medical geneticist, and consultation with an otolaryngologist was encouraged. Questionnaire surveys (QSs) were conducted five times to evaluate the participants' understanding of the topic, psychological impact, and attitude toward the study.</p><p><b>Results:</b> Whereas the majority of participants were unfamiliar with the term PGx, and none had undergone PGx testing before the study, more than 80% of the participants felt that they could acquire basic PGx knowledge sufficient to understand their genomic results and were satisfied with their potential benefit and use in future prescriptions. On the other hand, some felt that the PGx concepts or terminology was difficult to fully understand and suggested that in-person return of the results was desirable.</p><p><b>Conclusions:</b> These results collectively suggest possible benefits of returning preemptive PGx information to ostensibly healthy cohort participants in a research setting.</p>
• DOI: 10.31662/jmaj.2021-0156; https://doi.org/10.31662/jmaj.2021-0156
• オンライン閲覧公開範囲: インターネット公開
• 関連情報（URI）: http://id.ndl.go.jp/digimeta/14494905; https://dl.ndl.go.jp/pid/14494905; https://www.jmaj.jp/download.php?id=10.31662/jmaj.2021-0156; https://search.jamas.or.jp/link/ui/2023214162
• 参照: Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants; https://cir.nii.ac.jp/crid/1360580232409144064; Study Profile of the Iwate PGS Assessment and Risk Communication (PARC) Study; https://cir.nii.ac.jp/crid/1390870075604626432
• 連携機関・データベース: 国立情報学研究所 : CiNii Research; https://cir.nii.ac.jp/
• 提供元機関・データベース: Japan Link Center; https://japanlinkcenter.org/top; 雑誌記事索引データベース; https://ndlsearch.ndl.go.jp; Crossref; https://www.crossref.org; 科学研究費助成事業データベース; https://kaken.nii.ac.jp/ja
• 書誌ID（NDLBibID）: 14494905; http://id.ndl.go.jp/bib/14494905