Suckiel Sabrina A, O'Daniel Julianne M, Donohue Katherine E, Gallagher Katie M, Gilmore Marian J, Hendon Laura G, Joseph Galen, Lianoglou Billie R, Mathews Jennifer M, Norton Mary E, Odgis Jacqueline A, Poss Alexis F, Rego Shannon, Scollon Sarah, Yip Tiffany, Amendola Laura M
The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
J Pers Med. 2021 Mar 13;11(3):202. doi: 10.3390/jpm11030202.
Genomic sequencing results need to be effectively communicated across all populations and practice settings. Projects in the Clinical Sequencing Evidence-Generating Research (CSER) consortium enroll diverse racial/ethnic and medically underserved participants across various clinical contexts. This article explores a set of CSER results disclosure cases to expand the evidence base on experiences returning genomic results. Case details were collected using a structured set of questions. We identified common themes in the case set, and assessed challenges and strategies in achieving six relevant results disclosure objectives. CSER-affiliated patient/community stakeholder impressions of the findings were solicited via video conference calls. Seventeen cases across six CSER projects were included. Case themes sorted into four categories: (1) factors influencing participant understanding, (2) participant emotional response, (3) disease burden, and (4) logistical challenges. Challenges meeting results disclosure objectives included a lack of dialogue, health literacy level, unexpected findings, and complex concepts. Strategies were consistent with traditional genetic counseling practice, but also highlighted approaches being evaluated in CSER projects. Patient/community stakeholders supported the identified themes and provided additional suggestions to improve patient understanding and engagement. These experiences add valuable insights into adapting genomic results disclosure practices to best serve all patient populations.
基因组测序结果需要在所有人群和实践环境中进行有效沟通。临床测序证据生成研究（CSER）联盟的项目招募了不同种族/族裔以及在医疗服务方面未得到充分服务的参与者，涉及各种临床背景。本文探讨了一系列CSER结果披露案例，以扩大关于反馈基因组结果经验的证据基础。通过一组结构化问题收集案例细节。我们在案例集中确定了共同主题，并评估了实现六个相关结果披露目标时面临的挑战和策略。通过视频电话会议征求了与CSER相关的患者/社区利益相关者对研究结果的看法。纳入了六个CSER项目中的17个案例。案例主题分为四类：（1）影响参与者理解的因素，（2）参与者的情绪反应，（3）疾病负担，以及（4）后勤挑战。在实现结果披露目标方面面临的挑战包括缺乏对话、健康素养水平、意外发现和复杂概念。策略与传统遗传咨询实践一致，但也突出了CSER项目中正在评估的方法。患者/社区利益相关者支持所确定的主题，并提供了其他建议，以提高患者的理解和参与度。这些经验为调整基因组结果披露实践以更好地服务所有患者群体提供了宝贵的见解。
