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January 19, 1994

α1-Antitrypsin DeficiencyImpact of Genetic Discovery on Medicine and Society

Author Affiliations

From the Division of Human Genetics, School of Medicine (Drs Wulfsberg and Cohen), School of Law (Dr Hoffmann), and Medical Biotechnology Center (Dr Cohen), University of Maryland at Baltimore.

JAMA. 1994;271(3):217-222. doi:10.1001/jama.1994.03510270063041

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 α1-antitrypsin deficiency, described over 30 years ago. At this time, such concerns with respect to α1-antitrypsin deficiency have not yet been realized, perhaps for the following reasons: (1) knowledge of α1-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.

(JAMA. 1994;271:217-222)