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 medical genetics. The process by which these research advances progress from the laboratory to the bedside and their medical, social, and legal impact 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 injury and resultant damages; and be inappropriately interpreted by the medical profession. To address some of these issues, we chose, as a model, to review alpha 1-antitrypsin deficiency, described over 30 years ago. At this time, such concerns with respect to alpha 1-antitrypsin deficiency have not yet been realized, perhaps for the following reasons: (1) knowledge of alpha 1-antitrypsin deficiency, while common among geneticists and pulmonologists, has not been well disseminated in the medical community; (2) insurers, employers, lawyers, and judges are not generally aware of the deficiency and its implications; (3) insurers, if they are aware of the deficiency, have not found it cost-effective to screen for the condition; and (4) in the legal context, case law involving other types of preexisting conditions is being applied to genetic predispositions.