Arar Nedal H, Hazuda Helen, Steinbach Rebecca, Arar Mazen Y, Abboud Hanna E
Division of Nephrology/Department of Medicine, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229-3900, USA.
Ann Epidemiol. 2005 Oct;15(9):712-9. doi: 10.1016/j.annepidem.2004.09.010.
To examine subjects' recognition of the risks and ethical issues associated with enrollment in genetic family studies (GFS) and explore how this recognition affects their informed and voluntary participation.
A cross-sectional study design including both quantitative and qualitative data was employed. Structured interviews using the Contextual Assessment Approach Questionnaire (CAA-Q) were conducted with 246 Mexican American (MA) participants. To gain in-depth understanding of questionnaire responses, semi-structured interviews with 30 participants were conducted. All participants were interviewed before their enrollment in the Family Investigation of Nephropathy and Diabetes (FIND).
Subjects' average age was 56 years; 62% were females. Seventy-eight percent of participants were not formally educated beyond high school and 72% reported an annual household income of < or =20,000 dollars. Eighty-five percent agreed to provide researchers with information on relatives' ages, gender, and education. Sixty-five percent of participants were willing to provide identifiable information such as names, addresses, and phone numbers of relatives. Sixty-three percent of participants indicated that there were direct benefits (i.e., supporting research) to disclosing relatives' information. Seventy-six percent stated that there were no risks associated with participation in GFS (e.g., discrimination or confidentiality of genetic information) compared with 10% who said that there were such risks. While discussing potential risks, subjects did not consider these to influence their decision to participate.
Subjects enrolled in GFS did not recognize and tended to underestimate the social and cultural risks associated with their participation in GFS. If subjects do not fully comprehend the risks, this raises questions concerning their ability to provide informed consent and to voluntarily participate. We propose a subject-centered approach that views enrollment as an active process in which subjects and recruiters give and receive information on risks and ethical issues related to participation, which enhances protection of the rights and welfare of subjects participating in GFS.
研究受试者对参与基因家族研究（GFS）相关风险和伦理问题的认知，并探讨这种认知如何影响他们的知情且自愿参与。
采用横断面研究设计，包括定量和定性数据。对246名墨西哥裔美国人（MA）参与者使用情境评估方法问卷（CAA-Q）进行结构化访谈。为深入了解问卷回复情况，对30名参与者进行了半结构化访谈。所有参与者均在其参与肾病与糖尿病家族调查（FIND）之前接受访谈。
受试者的平均年龄为56岁；62%为女性。78%的参与者未接受过高中以上的正规教育，72%报告家庭年收入≤20,000美元。85%的人同意向研究人员提供亲属的年龄、性别和教育信息。65%的参与者愿意提供可识别信息，如亲属的姓名、地址和电话号码。63%的参与者表示披露亲属信息有直接益处（即支持研究）。76%的人表示参与GFS没有风险（如基因信息的歧视或保密问题），而10%的人表示存在此类风险。在讨论潜在风险时，受试者认为这些风险不会影响他们的参与决定。
参与GFS的受试者未认识到且往往低估了与参与GFS相关的社会和文化风险。如果受试者没有充分理解这些风险，这就引发了关于他们提供知情同意和自愿参与能力的问题。我们提出一种以受试者为中心的方法，将参与视为一个积极的过程，在此过程中受试者和招募者就与参与相关的风险和伦理问题进行信息的给予和接收，这将加强对参与GFS的受试者的权利和福利的保护。
