Alpha 1-antitrypsin deficiency. Impact of genetic discovery on medicine and society
E. A. Wulfsberg, D. E. Hoffmann and M. M. Cohen
Division of Human Genetics, School of Medicine, University of Maryland at Baltimore.
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.
