Genetic counselors and research: current practices and future directions.

Members of the genetic counseling community have debated the need for doctoral degree programs to further advance the profession. However, genetic counselors' interest in conducting independent research and attitudes toward obtaining a doctoral degree in genetic counseling has not been assessed in more than a decade. We designed a comprehensive web-based survey to characterize the current research values and practices of genetic counselors. Respondents were asked to self-report their current research involvement, their specific role in research activities, and their interest in performing research in the future. The study showed that a significant number of genetic counselors (84.5%) have conducted previous research, and 69.4% of respondents plan to perform research in the future. These results reflect the maturation of the genetic counseling field, in that a substantial number of genetic counselors consider active involvement in research to be a core role. The study also showed that 34.1% of respondents have high interest in a hypothetical PhD in Genetic Counseling, suggesting that the profession is primed for the development of doctoral degree training options.

Genetics and alcoholism among at-risk relatives I: perceptions of cause, risk, and control.

Genetic factors influence a person's risk for developing alcoholism. In other common disorders with a genetic component, a belief in a genetic cause can lead to less perceived control or fatalism among those at risk that may adversely affect undertaking health-promoting behaviors. This study explores beliefs about the cause of alcoholism and risk perception among individuals with affected relatives. In-depth interviews including both open-ended questions and several quantitative measures were conducted with participants to explore the relationships between causal beliefs and perceptions of personal risk and control. Twenty-seven individuals with at least one first-degree relative affected with alcoholism participated. Transcript analysis of interviews revealed that all participants attribute multiple factors to the cause of alcoholism in their families, often as a combination of biological, genetic, environmental factors, and personal characteristics. Many perceived themselves as being 'at-risk,' and this concern often stemmed from a belief in a genetic or biological cause of alcoholism. However, participants also had a strong sense of personal control, rooted in beliefs about environmental causes or personal characteristics influencing alcoholism risk. A participant's strong belief in a genetic cause was associated with a significantly increased risk perception, but not a fatalistic outlook towards developing alcoholism.

Genetics and alcoholism among at-risk relatives II: interest and concerns about hypothetical genetic testing for alcoholism risk.

One purpose of this study was to examine hypothetical interest in genetic predisposition testing for alcoholism among at-risk relatives. Qualitative interviews and several quantitative tools were administered to 27 individuals who had at least one first-degree relative affected by alcoholism. Data analysis revealed that participants' interest in genetic testing for susceptibility to alcoholism was moderate. Lower educational level and a stronger belief in 'others' influencing health were related to participants' having a stronger interest in genetic testing. Participants' concerns about future use of genetic testing ranged from doubts about its usefulness in affecting behavior to apprehension regarding detrimental societal effects such as breaches in confidentiality and fear of being labeled an 'alcoholic.' Younger age and stronger interest in genetic testing were associated with deterministic or fatalistic beliefs, while drinking behaviors, gender, and other demographics were not. Participants questioned the utility of this type of testing. Their interest in testing and concerns about its hypothetical use may prove important for at-risk relatives who may face decisions about genetic testing in the future. Data from this study can provide direction for researchers and health care providers as genetic testing for this and other behavioral conditions emerges. Scientists and the public should address the social concerns expressed by participants, including the fear of labeling. Also, we can begin to anticipate characteristics common in those who may have fatalistic responses, and who may possibly make adverse behavior choices, to results from alcoholism susceptibility testing.

Informed consent for research on stored blood and tissue samples: a survey of institutional review board practices.

Numerous position papers have outlined informed consent recommendations for the collection, storage, and future use of biological samples; however, there currently is no consensus regarding what kinds of information should be included in consent forms. This study aimed to determine whether institutional review boards (IRBs) vary in their informed consent requirements for research on stored biological samples, and whether any variation observed could be correlated to factors such as volume of work, IRB members' familiarity with ethical issues in genetic research, and IRBs' use of either of two policy guidelines as resources. A brief survey was mailed to all IRB chairpersons on a mailing list obtained from the Office for Human Research Protections. Survey questions included whether consent forms for the collection of biological samples for future use address each of six provisions recommended in current guidelines and position statements, and whether IRBs used the Office for Protection from Research Risks' 1993 Protecting Human Research Subjects: Institutional Review Board Guidebook, chapter 5 (hereinafter IRB Guidebook) or the National Bioethics Advisory Commission's 1999 Research Involving Human Biological Materials: Ethical Issues and Policy Guidance, Volume I (hereinafter Report) in their deliberations. Despite a low response rate (22%, 427 respondents), results indicate that IRB practices vary substantially. The degree to which the provisions were included in consent forms was found to correlate positively with IRBs that review a greater volume of protocols annually, those that use the National Bioethics Advisory Commission Report in their deliberations, and those that draw on both the Report and the IRB Guidebook.