Consideration of privacy and confidentiality in conducting family studies

As knowledge of medical genetics expands, more attention must focus upon the significance of family history. Evaluation of families with heritable disease necessarily involves not only the ethical but also the legal constraints designed to protect the subjects from possible abuse and exploitation. Despite the immense value attached to the knowledge and application of family history information, these issues (and particularly their misinterpretation) may thwart the clinician and investigator. All too frequently the would be investigator avoids such intensive studies altogether, due to the fear of violating some right of the family member, even though the parameters of such rights may be unknown or ill defined. Pertinent legal and ethical problems involved in such family studies are given in their actual clinical context, drawing heavily from our experience with investigation of hundreds of extended cancer prone kindreds, with a review of the legal and medico legal literature as it has been applied in practice. For example, individuals from a number of countries have established registries of genetic disorders whose operations are typically limited by the same constraints which affect family studies. The right to privacy, the importance of maintaining the confidentiality of physician patient communications, and prerequisites to human experimentation need to be clearly defined at the single family investigation level. Only then will regional and national registry systems be able to operate optimally in documenting or investigating genetic disorders.