Biomedical Ethics Research Program, Mayo Clinic, Rochester, MN, USA.
Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Eur J Hum Genet. 2022 Jan;30(1):53-61. doi: 10.1038/s41431-021-00890-1. Epub 2021 Apr 19.
While prior studies have largely focused on family communication of diagnostic single-gene test results or specific types of cancer testing results, far less work has investigated family communication of cancer-related genetic results that include multi-gene panels, a broad array of cancer types/stages, and participants without family history of cancer. The study we report here examined individuals' anticipated barriers and benefits to sharing genetic information with family members. An 80+ gene panel was performed on participants recruited from Mayo Clinic, diagnosed with different cancer types, who did not have a family history suggestive of an inherited risk. Participants completed a 49-item survey before receiving genetic test results. Family variant testing was provided to family members at no cost, allowing factors influencing intent to share to be examined in the absence of financial burdens. In all, 1721 of 2984 individuals who received genetic testing completed the survey (57.7% completion rate). Participants' intent to share with parents, siblings, and children was inversely related to the number of anticipated barriers to sharing and directly related to the number of anticipated benefits to sharing. Of those participants who did not intend to share with parents, siblings, and adult children, 64.8%, 30.3%, and 67.6% reported that there were no barriers, while 17.1%, 24.5%, and 40.2.% reported there were no benefits. Findings indicate that barriers to sharing genetic information with family members vary across family member types, and an inability to identify at least one benefit of sharing with family members is a predictor of intent not to share.
虽然之前的研究主要集中在家庭沟通诊断性单基因测试结果或特定类型的癌症测试结果上，但很少有研究调查包括多基因面板、广泛的癌症类型/阶段以及没有癌症家族史的参与者在内的癌症相关遗传结果的家庭沟通。我们在此报告的研究调查了个人与家庭成员分享遗传信息的预期障碍和益处。从梅奥诊所招募的患有不同癌症类型且没有家族史提示遗传风险的参与者接受了 80 多个基因的检测。参与者在收到基因检测结果之前完成了一份 49 项的调查。免费向家庭成员提供家族变体检测，使能够在没有经济负担的情况下检查影响分享意向的因素。总共，在接受基因检测的 2984 人中，有 1721 人完成了调查（完成率为 57.7%）。参与者与父母、兄弟姐妹和孩子分享的意愿与分享的预期障碍数量呈反比，与分享的预期益处数量成正比。在那些不打算与父母、兄弟姐妹和成年子女分享的参与者中，64.8%、30.3%和 67.6%报告没有障碍，而 17.1%、24.5%和 40.2%报告没有好处。研究结果表明，与家庭成员分享遗传信息的障碍因家庭成员类型而异，并且无法确定与家庭成员分享的至少一个好处是不分享的预测因素。
