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The problem of ignoring interconnectedness in genetic research
  1. James F Meschia, MD
  1. Consultant and Assistant Professor of Neurology, Mayo Clinic, 4500 San Pablo Road Jacksonville, Florida 32224, USA

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    I was delighted to read a scholarly defence of the notions of interconnectedness and responsibility to others as they apply to genetic privacy.1 Many of the same ethical principles that apply to providing medical care also apply to conducting research.

    Concepts of genetic privacy are evolving, and these concepts can have a profound effect on the conduct of genetic and genealogical research. In the United States, there seems to be an emphasis on autonomy to the near exclusion of responsibility to others in human genetic research. A recent case illustrates the point.2 The father of college-age twins had complained that a questionnaire sent to his daughter by a university geneticist invaded his privacy by asking questions about his own physical and emotional health. The issue was raised to the level of the National Institutes of Health (US), and the Office for the Protection from Research Risk (OPRR) responded by temporarily suspending federal funding of research at the university. The OPRR said the investigator should have secured consent from each family member included in the pedigree. Operationally, the OPRR was treating each member of a pedigree as an unrelated autonomous individual.

    The temporary suspension of funding had a chilling effect on review of genetic research protocols at many institutions. My experience with planning a study that involves many clinical centres in North America has taught me that many institutional review boards fear that contacting family members using information freely given by probands might be construed as infringing the privacy rights of family members. Cold contacting is the process of contacting a stranger without securing permission. To the consternation of many in the United States, the process is done routinely by telemarketers. Should cold contacting be banned in genetic research? Naturally, people have the right to refuse participation in a research study. It also seems appropriate that participation of a family member in a research protocol should in no way restrict the right of another member of that same pedigree to refuse participation in a research study. Cold contacting to invite additional members of a pedigree to participate in a genetic study needs to be reconsidered in communitarian terms. Notions of interconnectedness and responsibility to others are atrophied and are in need of exercise.


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