Key Issues and Questions in Conducting Human Genetic Research

Recruitment Strategies and the Informed Consent Process

Privacy of Research Results

Disclosure of Research Results

Withdrawl Rights in Genetic Research

Recruitment Strategies and the Informed Consent Process

Enrolling families and community members in genetic studies poses special challenges to protecting the voluntariness of individual participation in research. Often, the most effective way to recruit subjects is to use influential family or group members as facilitators. However, these facilitators usually proceed as advocates of research, not neutral recruiters, and can sometimes put undue pressure to participate on other potential subjects. At the same time, key figures within a family or group also can assert the right to give permission to researchers to contact other potential subjects independently. In these situations, how should the contact and consent processes be structured?

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Privacy of Research Results

A traditional convention in human genetics is to report the data of gene-identification project through a family pedigree: a chart of a particular allele's migration through a family lineage. While it is commonplace to remove family names from published pedigrees to protect subjects' confidentiality, the charts themselves, as family trees, can serve to identify and disclose sensitive information about family members. Similarly, with population genetic research, it has been conventional to publish the name of groups under the study, though not the individuals involved. Increasingly, subjects are becoming concerned about the publication of data that can identify the corporate groups to which they belong. Should pedigrees and group identifiers be disguised in publications to protect confidentiality, or should the subjects themselves be asked for permission in advance to publish pedigrees and population identifiers?

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Disclosure of Research Results

As the mapping and sequencing of the human genome has produced more powerful gene identification tools, more investigators are faced with the prospect of actually having clinically relevant genetic information revealed by their studies about their subjects. Traditionally, the bench scientists involved in such studies have felt ill equipped to provide the education and counseling that should go along with such clinical findings. However, increasingly, investigators feel obligated to warn their subjects of their findings, and subjects are requesting that any clinically relevant information be disclosed to them. How should basic scientists understand and accommodate their "duty to warn" and the subjects' "rights to know"?

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Withdrawl Rights in Genetic Research

Traditionally, human research subjects have always been promised the right to withdraw from research at any time without prejudice. It is not always clear, however, what exercising such a right might mean in the context of genetic studies, where one's participation consists in having a tissue sample on file and a symbol on a pedigree chart. Should individual subjects be given control over the disposition of the tissue samples they donate for genetic research? If not, are genetic researchers free to treat such samples as gifts, to use in whatever subsequent research they may pursue? What is the scope of the "participation" that individuals should agree to in volunteering for genetic studies?

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