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

• Material Type: 記事
• Title: A pilot study for return of individual pharmacogenomic results to population-based cohort study participants
• Author/Editor: 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
• Publication, Distribution, etc.: 日本 : Japan Medical Association
• Publication Date: 2022-04-15
• Publication Date (W3CDTF): 2022-04-15
• Periodical title: JMA Journal
• No. or year of volume/issue: 5(2)
• Volume: 5(2)
• ISSN (Periodical Title): 2433-3298
• ISSN-L (Periodical Title): 2433-328X
• Text Language Code: eng
• DOI: 10.31662/jmaj.2021-0156; https://doi.org/10.31662/jmaj.2021-0156
• Persistent ID (NDL): info:ndljp/pid/14494905; https://dl.ndl.go.jp/pid/14494905
• Collection: 障害者向け資料
• Collection (Materials For Handicapped People:1): テキストデータ
• Collection (particular): 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
• Acquisition Basis: インターネット資料収集保存事業（WARP）
• Date Accepted (W3CDTF): 2025-10-21T09:04:40+09:00
• Date Captured (W3CDTF): 2024-09-26
• Format (IMT): application/pdf
• Access Restrictions: インターネット公開
• Availability of remote photoduplication service: 不可
• Periodical Title (URI): https://warp.da.ndl.go.jp/info:ndljp/pid/13747952/www.jmaj.jp/detail.php?id=10.31662%2Fjmaj.2021-0156
• Periodical Title (Persistent ID (NDL)): info:ndljp/pid/14494903; https://dl.ndl.go.jp/pid/14494903
• Data Provider (Database): 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

• Summary, etc.: <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
• Access Restrictions: インターネット公開
• Data Provider (Database): 科学技術振興機構 : J-STAGE; http://www.jstage.jst.go.jp

• Summary, etc.: <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
• Access Restrictions: インターネット公開
• Related Material (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
• Is Referenced By: 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
• Data Provider (Database): 国立情報学研究所 : CiNii Research; https://cir.nii.ac.jp/
• Original Data Provider (Database): 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
• Bibliographic ID (NDL): 14494905; http://id.ndl.go.jp/bib/14494905