Amano Yael, Raz Aviad, Timmermans Stefan, Shkedi-Rafid Shiri
Department of Sociology and Anthropology, Ben-Gurion University of the Negev, Negev, Israel.
Department of Sociology-UCLA, Los Angeles, CA, USA.
J Community Genet. 2022 Aug;13(4):381-388. doi: 10.1007/s12687-022-00594-z. Epub 2022 May 26.
Genetic variants of uncertain significance (VUSs) pose a growing challenge for patient communication and care in precision genomic medicine. To better understand patient perspectives of VUSs, we draw on qualitative analysis of semi-structured interviews with 22 cancer patients and individuals with cancer family history who received a VUS result. The majority of patients did not recall receiving VUS results and those who remembered expressed few worries, while respondents who were tested because of a family history of cancer were more concerned about the VUS results. Personal characteristics, medical condition, family history, expectations prior to testing, and motivations for pursuing testing influence the ways patients came to terms with the uncertainty of the VUS result. We conclude by discussing the relevance of the findings to the debate on the responsibility of the patient in checking back for VUS reclassification and to implications for genetic counseling that emphasizes tailoring the pre- and post-test discussion of VUS as appropriate to the patients' informational as well as emotional needs.
意义未明的基因变异（VUSs）在精准基因组医学中给患者沟通和护理带来了日益严峻的挑战。为了更好地理解患者对VUSs的看法，我们对22名癌症患者和有癌症家族史且收到VUS检测结果的个体进行了半结构化访谈，并进行定性分析。大多数患者不记得收到过VUS检测结果，而那些记得的患者表示担忧较少，不过因癌症家族史而接受检测的受访者则更担心VUS检测结果。个人特征、健康状况、家族史、检测前的期望以及进行检测的动机，都会影响患者应对VUS检测结果不确定性的方式。我们在结论中讨论了这些发现与关于患者复查VUS重新分类责任的辩论的相关性，以及对遗传咨询的启示，即强调根据患者的信息和情感需求，恰当地调整VUS检测前和检测后的讨论。
