University of Washington, Seattle Washington.
Kaiser Permanente Washington Health Research Institute, Seattle Washington.
AMIA Annu Symp Proc. 2022 Feb 21;2021:950-958. eCollection 2021.
Precision medicine presents challenges for effective return of results (ROR) to patients, particularly for variants of uncertain significance (VUS) where the need for genetic counseling and the impact of results are underexplored. We investigated patients' experiences with VUS ROR. Through interviews we compared experiences of patients who were referred to genetic counseling with those not referred. Although participants from both groups (n=16) reported curious enthusiasm and relief after ROR, the 5 referred participants reported less confusion, less disappointment, and better confidence in understanding their results than the 11 non-referred participants. Although VUS did not impact healthcare or daily lives, some participants who shared VUS fostered communication about future healthcare. Suggested ROR improvements included patient-friendly terminology, on-demand education, and ongoing consultation. Although patient experience of VUS improved when ROR involved expert consultation, scarcity of genetic counselors presents challenges. Improving the ROR process with patient-centered solutions could enhance the patient experience of receiving VUS.
精准医学对有效的结果回报 (ROR) 给患者带来了挑战，尤其是对于意义不确定的变异 (VUS)，遗传咨询的需求和结果的影响尚未得到充分探索。我们调查了患者对 VUS ROR 的体验。通过访谈，我们比较了被转介至遗传咨询的患者与未被转介的患者的体验。尽管来自这两个组的参与者（n=16）在 ROR 后都报告了好奇的热情和宽慰，但与 11 名未被转介的参与者相比，5 名被转介的参与者报告的困惑较少、失望较少，对理解结果的信心更强。尽管 VUS 对医疗保健或日常生活没有影响，但一些分享 VUS 的参与者促进了未来医疗保健的沟通。建议的 ROR 改进包括患者友好的术语、按需教育和持续咨询。尽管当 ROR 涉及专家咨询时，患者对 VUS 的体验会有所改善，但遗传咨询师的稀缺性带来了挑战。通过以患者为中心的解决方案改进 ROR 流程，可以增强患者接受 VUS 的体验。
