RESEARCH SAMPLES FROM FAMILIES WITH GENETIC-DISEASES - A PROPOSED CODE OF CONDUCT

Research on samples from families with genetic disease underlies many of the major advances that are occurring in medical genetics. But ethi cal and practical problems may arise when samples from relatives who a re healthy but at risk are included in such studies. In particular, ne w molecular tests for specific gene mutations may result in the detect ion of a genetic defect in relatives who had neither expected this pos sibility nor given specific consent to such testing. Family members at risk should not be included in such studies unless strictly necessary , and in such cases specific consent should be obtained and informatio n should be given about the implications of an abnormal result of a te st. This is particularly important when stored samples from previous s tudies without such implications are being reused and is also relevant to the genetic testing of samples taken primarily for epidemiological studies of disorders when only a small proportion of cases is thought to be genetic in origin. There is a need for guidelines to protect bo th subjects and investigators in a field which is spreading rapidly an d involving many clinical and laboratory research workers previously u nfamiliar with genetic testing.