Institute for Health Research, Kaiser Permanente Colorado, Aurora, CO, USA.
Mid-Atlantic Permanente Research Institute, Kaiser Permanente Mid-Atlantic States, Rockville, MD, USA.
J Genet Couns. 2020 Aug;29(4):634-643. doi: 10.1002/jgc4.1193. Epub 2019 Nov 20.
Genetic testing has increased over the last decade due to growth in the number of clinical and direct-to-consumer (DTC) tests. However, there is uncertainty about how increased DTC genetic testing affects disparities. Between November 2017 and February 2018, a nationwide electronic survey on experiences with genetic testing was conducted among adult Kaiser Permanente members. Logistic regression was used to calculate adjusted odds ratios and 95% confidence intervals comparing receipt of clinical and DTC genetic testing between groups by race and ethnicity. Invitations were sent to 57,331 members, and 10,369 surveys were completed. 22% of respondents had received genetic testing (17% DTC and 5% provider-ordered). Non-Hispanic Whites were more likely than other groups to have clinical genetic testing but were similar to Hispanics and non-Hispanic Blacks in rates of DTC genetic testing. Among those who received any health-related genetic test, 10% reported abnormal results. Of these, non-Hispanic Whites were more likely than other racial/ethnic groups to speak to a medical professional about abnormal results. Results suggest that racial/ethnic disparities in the use of clinical genetic services persist. Additional research is needed to identify lessons learned from DTC genetic testing that may increase equity in the use of clinical genetic services.
在过去十年中,由于临床和直接面向消费者(DTC)测试数量的增加,基因检测有所增加。然而,人们对增加的 DTC 基因检测如何影响差异仍存在不确定性。2017 年 11 月至 2018 年 2 月,对 Kaiser Permanente 成年会员进行了一项全国性的电子基因检测体验调查。使用逻辑回归计算了按种族和民族划分的临床和 DTC 基因检测之间的调整比值比和 95%置信区间。向 57331 名会员发送了邀请,完成了 10369 份调查。22%的受访者接受了基因检测(17%是 DTC,5%是医生要求的)。与其他群体相比,非西班牙裔白人更有可能接受临床基因检测,但与西班牙裔和非西班牙裔黑人的 DTC 基因检测率相似。在接受任何与健康相关的基因检测的人中,有 10%报告了异常结果。在这些人中,非西班牙裔白人比其他种族/民族群体更有可能就异常结果与医疗专业人员交谈。结果表明,在临床基因服务的使用方面,种族/民族差异仍然存在。需要进一步研究从 DTC 基因检测中吸取的经验教训,以增加临床基因服务使用的公平性。