Hartz Sarah M, Olfson Emily, Culverhouse Robert, Cavazos-Rehg Patricia, Chen Li-Shiun, DuBois James, Fisher Sherri, Kaphingst Kimberly, Kaufman David, Plunk Andrew, Ramnarine Shelina, Solomon Stephanie, Saccone Nancy L, Bierut Laura J
School of Medicine, Washington University in St. Louis, St. Louis, Missouri, USA.
Johns Hopkins University, Washington, DC, USA.
Genet Med. 2015 May;17(5):374-9. doi: 10.1038/gim.2014.110. Epub 2014 Aug 28.
The goal of this study was to examine participant responses to disclosure of genetic results in a minority population at high risk for depression and anxiety.
Eighty-two subjects in a genetic study of nicotine dependence were offered personalized genetic results. All were nicotine-dependent and 64% self-identified as African American. Pathway Genomics was used to evaluate genetic risks for five complex diseases. Participants returned 4-8 weeks after enrollment for in-person genetic counseling interviews and evaluation of baseline measures. A telephone follow-up was performed 4-8 weeks later to assess responses to results.
Fifty of the 82 subjects (61%) were interested in receiving genetic results. These participants had multiple risk factors, including high baseline measures of depression (66%) and anxiety (32%), as well as low rates of employment (46%), adequate health literacy (46%), and health insurance (45%). Pathway Genomics reported "increased risk" for at least one disease in 77% of subjects. Ninety-five percent of participants reported that they appreciated the genetic results, and receiving these results was not associated with changes in symptoms of depression or anxiety. Furthermore, after return of genetic results, smoking cessation attempts increased (P = 0.003).
Even in an underserved population at high risk for adverse psychological reactions, subjects responded positively to personalized genetic results.
本研究的目的是考察在一个有患抑郁症和焦虑症高风险的少数族裔人群中,参与者对基因检测结果披露的反应。
在一项尼古丁依赖基因研究中的82名受试者获得了个性化的基因检测结果。所有受试者均对尼古丁有依赖,且64%自认为是非洲裔美国人。Pathway Genomics公司被用于评估五种复杂疾病的基因风险。参与者在入组4 - 8周后返回接受面对面的基因咨询访谈和基线测量评估。4 - 8周后进行电话随访以评估对检测结果的反应。
82名受试者中有50名(61%)对获得基因检测结果感兴趣。这些参与者有多种风险因素,包括抑郁症(66%)和焦虑症(32%)的高基线测量值,以及低就业率(46%)、足够的健康素养(46%)和健康保险覆盖率(45%)。Pathway Genomics公司报告称77%的受试者至少有一种疾病的风险“增加”。95%的参与者表示他们感激基因检测结果,且收到这些结果与抑郁或焦虑症状的变化无关。此外,在收到基因检测结果后,戒烟尝试增加(P = 0.003)。
即使在一个有不良心理反应高风险的未得到充分服务的人群中,受试者对个性化的基因检测结果反应积极。