Siddiqui Wamia, Pacyna Joel E, Phelan Sean M, Jones Jeremy C, Samadder N Jewel, Sharp Richard R
Biomedical Ethics Research Program, Mayo Clinic, Rochester, MN 55905, USA.
Division of Healthcare Delivery Research, Mayo Clinic, Rochester, MN 55905, USA.
J Pers Med. 2024 Sep 17;14(9):987. doi: 10.3390/jpm14090987.
BACKGROUND/OBJECTIVES: Multi-gene, multi-cancer, hereditary cancer risk screenings may be useful in cancer prevention and treatment, not only for cancer patients but also for patients' family members. If genetic cancer screening is to have the widest possible benefit, it must be extended into diverse cancer care settings that serve diverse patient communities, providing cancer patients and their relatives with individualized cancer risk evaluations. Little research, to date, has examined the impact of extending multigenic cancer screening into diverse settings. Without empirical data characterizing the support needs of cancer patients and their family members, we may not adequately satisfy the needs of all patients and risk exacerbating existing disparities in cancer care and outcomes.
We examined patient perspectives on the sharing of genetic results with at-risk family members by surveying a racially diverse sample of cancer patients receiving a multi-gene, multi-cancer risk screen in a community hospital setting.
In a survey of 230 cancer patients, we found that intent to share results with family members was high but varied across family member types. More respondents planned to disclose results to at least one sister (82.5%) compared to at least one brother (73.1%). Over one-fourth of participants (27.4%) were either uncertain about sharing or intended to withhold their genomic screening results from at least one at-risk family member eligible for cascade testing. Participants were more likely to withhold their results from a sibling than from a child. Furthermore, intent to share across all family member types was lower if probands failed to identify at least one benefit to sharing.
Understanding factors associated with decisions to share results with at-risk relatives in diverse patient populations can help clinicians support cascade genetic cancer screenings in diverse communities and settings.
背景/目的：多基因、多癌症的遗传性癌症风险筛查可能对癌症的预防和治疗有用，不仅适用于癌症患者，也适用于患者的家庭成员。如果基因癌症筛查要获得尽可能广泛的益处，就必须扩展到为不同患者群体服务的各种癌症护理环境中，为癌症患者及其亲属提供个性化的癌症风险评估。迄今为止，很少有研究考察将多基因癌症筛查扩展到不同环境中的影响。如果没有实证数据来描述癌症患者及其家庭成员的支持需求，我们可能无法充分满足所有患者的需求，并有加剧现有癌症护理和治疗结果差异的风险。
我们通过对在社区医院接受多基因、多癌症风险筛查的不同种族癌症患者样本进行调查，研究了患者对与高危家庭成员分享基因检测结果的看法。
在对230名癌症患者的调查中，我们发现与家庭成员分享检测结果的意愿很高，但因家庭成员类型而异。与至少一个兄弟（73.1%）相比，更多的受访者计划向至少一个姐妹披露检测结果（82.5%）。超过四分之一的参与者（27.4%）对于是否分享检测结果不确定，或者打算对至少一名符合级联检测条件的高危家庭成员隐瞒其基因组筛查结果。参与者对兄弟姐妹隐瞒检测结果的可能性高于对子女隐瞒的可能性。此外，如果先证者未能确定分享检测结果的至少一项益处，那么与所有家庭成员分享检测结果的意愿就会降低。
了解不同患者群体中与决定向高危亲属分享检测结果相关的因素，有助于临床医生在不同社区和环境中支持级联遗传性癌症筛查。
