USC Norris Comprehensive Cancer Center, Los Angeles, CA, USA.
Stanford University Cancer Institute, Stanford, CA, USA.
Transl Behav Med. 2018 Jan 29;8(1):85-94. doi: 10.1093/tbm/ibx010.
Research on the communication of genetic test results has focused predominately on non-Hispanic White (NHW) mutation-positive families with high-risk hereditary cancer conditions. Little is known about this process for racially and ethnically diverse individuals or for those with mutations in moderate risk genes. The communication behaviors of study participants who carry a gene mutation were analyzed 3 months after disclosure of genetic test results. Participants were queried about communication of their results, as part of a prospective study of multi-gene panel genetic testing. The responses of particpants who tested positive were analyzed by race/ethnicity and by level of cancer risk (high vs. moderate). Of the 216 mutation-positive study participants, 136 (63%) responded. Self-reported race/ethnicity was 46% NHW, 41% Hispanic, 10% Asian, and 2% Black. The majority (99.0%, n = 135) had shared their results with someone and 96% had told a family member (n = 130). Hispanic respondents were less likely to have told a healthcare provider about their results than NHW (29% vs. 68%, p < .0001). Asian respondents were less likely than NHW to encourage family members to undergo testing (OR = 0.1, p = .03); but Asian family members were more likely to undergo testing (OR = 8.0, p = .03). There were no differences in communication between those with a mutation in a high- or moderate-risk gene. Three months post genetic testing, communication of results was very high; 30% reported a family member underwent genetic testing. Further studies are needed to better understand the communication process in individuals from diverse racial/ethnic backgrounds.
研究主要集中在具有高风险遗传性癌症的非西班牙裔白种人(NHW)突变阳性家庭的遗传测试结果沟通上。对于不同种族和族裔的个体,或携带中危基因突变的个体,对此过程知之甚少。在基因检测结果公布 3 个月后,对携带基因突变的研究参与者的沟通行为进行了分析。参与者被问及他们的检测结果的沟通情况,这是一项多基因面板基因检测的前瞻性研究的一部分。根据种族/族裔和癌症风险水平(高 vs. 中)分析了检测呈阳性的参与者的反应。在 216 名突变阳性的研究参与者中,有 136 名(63%)做出了回应。自我报告的种族/族裔为 46%的非西班牙裔白人,41%的西班牙裔,10%的亚洲人,2%的黑人。大多数(99.0%,n = 135)与他人分享了他们的结果,96%的人告诉了家人(n = 130)。与非西班牙裔白人相比,西班牙裔受访者更不愿意将结果告诉医疗保健提供者(29% vs. 68%,p <.0001)。与非西班牙裔白人相比,亚裔受访者不太可能鼓励家庭成员进行检测(OR = 0.1,p =.03);但亚裔家庭成员更有可能接受检测(OR = 8.0,p =.03)。高风险或中危基因突变携带者之间的沟通没有差异。基因检测后 3 个月,结果的沟通率非常高;有 30%的人报告有家庭成员接受了基因检测。需要进一步研究以更好地了解不同种族/族裔背景的个体的沟通过程。