ALPHA-1-ANTITRYPSIN DEFICIENCY - IMPACT OF GENETIC DISCOVERY ON MEDICINE AND SOCIETY

An increasing body of molecular information resulting from advances in basic research is being incorporated into clinical practice by medica l genetics. The process by which these research advances progress from the laboratory to the bedside and their medical, social, and legal im pact is a topic of intense current interest. Some authors have claimed that new genetic information may lead to discrimination in insurance and employment; change the way courts allocate responsibility for inju ry and resultant damages; and be inappropriately interpreted by the me dical profession. To address some of these issues, we chose, as a mode l, to review alpha1-antitrypsin deficiency, described over 30 years ag o. At this time, such concerns with respect to alpha1-antitrypsin defi ciency have not yet been realized, perhaps for the following reasons: (1) knowledge of alpha1-antitrypsin deficiency, while common among gen eticists and pulmonologists, has not been well disseminated in the med ical community; (2) insurers, employers, lawyers, and judges are not g enerally aware of the deficiency and its implications; (3) insurers, i f they are aware of the deficiency, have not found it cost-effective t o screen for the condition; and (4) in the legal context, case law inv olving other types of preexisting conditions is being applied to genet ic predispositions.