Burnett-Hartman Andrea N, Blum-Barnett Erica, Carroll Nikki M, Madrid Sarah D, Jonas Cabell, Janes Kristen, Alvarado Monica, Bedoy Ruth, Paolino Valerie, Aziz Nazneen, McGlynn Elizabeth A
Institute for Health Research, Kaiser Permanente Colorado, Aurora, Colorado, USA,
Institute for Health Research, Kaiser Permanente Colorado, Aurora, Colorado, USA.
Public Health Genomics. 2020;23(1-2):59-68. doi: 10.1159/000507056. Epub 2020 Apr 14.
Most genetics studies lack the diversity necessary to ensure that all groups benefit from genetic research.
To explore facilitators and barriers to genetic research participation.
We conducted a survey on genetics in research and healthcare from November 15, 2017 to February 28, 2018 among adult Kaiser Permanente (KP) members who had been invited to participate in the KP biobank (KP Research Bank). We used logistic regression to calculate adjusted odds ratios (ORs) and 95% confidence intervals (CIs) comparing the willingness to participate in genetic research under different return of results scenarios and genetic discrimination concerns between groups, according to their demographic characteristics.
A total of 57,331 KP members were invited to participate, and 10,369 completed the survey (18% response rate). Respondents were 65% female, 44% non-Hispanic White (NH White), 22% Asian/Native Hawaiian or other Pacific Islander (Asian/PI), 19% non-Hispanic Black (NH Black), and 16% Hispanic. Respondents willing to participate in genetic research ranged from 22% with no results returned to 87% if health-related genetic results were returned. We also found variation by race/ethnicity; when no results were to be returned, Asian/PIs, Hispanics, and NH Blacks were less likely to want to participate than NH Whites (p < 0.05). However, when results were returned, disparities in the willingness to participate disappeared for NH Blacks and Hispanics. Genetic discrimination concerns were more prevalent in Asian/PIs, Hispanics, and NH Blacks than in NH Whites (p < 0.05).
Policies that prohibit the return of results and do not address genetic discrimination concerns may contribute to a greater underrepresentation of diverse groups in genetic research.
大多数遗传学研究缺乏必要的多样性，以确保所有群体都能从基因研究中受益。
探讨参与基因研究的促进因素和障碍。
2017年11月15日至2018年2月28日，我们对受邀参与凯撒医疗集团（KP）生物样本库（KP研究库）的成年KP成员进行了一项关于研究和医疗保健领域遗传学的调查。我们使用逻辑回归计算调整后的优势比（OR）和95%置信区间（CI），根据不同的人口统计学特征，比较不同结果反馈方案下参与基因研究的意愿以及不同群体之间对基因歧视的担忧。
共有57331名KP成员受邀参与，10369人完成了调查（回复率为18%）。受访者中65%为女性，44%为非西班牙裔白人（NH白人），22%为亚洲人/夏威夷原住民或其他太平洋岛民（亚洲人/太平洋岛民），19%为非西班牙裔黑人（NH黑人），16%为西班牙裔。愿意参与基因研究的受访者比例从无结果反馈时的22%到有健康相关基因结果反馈时的87%不等。我们还发现了种族/民族差异；当不反馈结果时，亚洲人/太平洋岛民、西班牙裔和NH黑人比NH白人更不愿意参与（p<0.05）。然而，当反馈结果时，NH黑人和西班牙裔参与意愿的差异消失了。对基因歧视的担忧在亚洲人/太平洋岛民、西班牙裔和NH黑人中比在NH白人中更为普遍（p<0.05）。
禁止反馈结果且未解决基因歧视担忧的政策可能会导致不同群体在基因研究中的代表性更低。
