Research studies in applied human genetics: A quantitative analysis and critical review of recent literature

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Abstract
To determine the extent to which speculations about the social, legal, and ethical implications of genetic counseling, screening, and prenatal diagnosis are being studied empirically, the substantive contents of major genetics (N=5) and obstetrics journals (N=2) from the years 1985–1989 were reviewed. Among the approximately 9,000 articles published, only 58 containing relevant substantive data could be identified. Data collected in a single study were reported in more than one article in at least ten cases so that these articles actually represent only 45 distinct studies. Most described investigations of the attitudes and reactions of individuals or couples who had had had or been referred for genetic counseling or prenatal diagnosis. These observational studies generally employe study‐specific questionnaires, many of which were apparently self‐administrered by respondents, to obtain data. This survey and analysis of the recent literature suggests that despite frequent editorials and othelr commentaries underlining the problematic nature of developments in medical genetics and calling for their investigation, the “gatekeepers” to this service continue to pay scant attention to these issues in their reported research. Innovative and interdisciplinary studies that will provide information to close the many gaps in ourunderstanding of the consequences of developments in applied human genetics are recommended for the furture.