To the Editor: In their editorial (Sept. 4 issue),1 Guttmacherand Collins provide a conventional and optimistic overview ofthe effects of genomics on clinical practice. Absent from theirdiscussion is mention of the most common current use of geneticsin clinical practice: negative eugenics. Testing for chromosomaldisorders is routine in obstetrics and fertility medicine. Theexample of Tay–Sachs disease demonstrates that voluntaryscreening of the population and genetic counseling can havea substantial effect on the incidence of disease.2 As the novelistJosef Skvoreck has written, "the past shows the potential ofthe future."3 Increasing knowledge of genetic contributionsto disease increases opportunities for eugenic intervention.This is not a theoretical possibility; the organizations thatsponsored screening for Tay–Sachs disease are expandingthis program to include other genetic diseases that are relativelycommon among Ashkenazi Jews.4 To date, translation of the identificationof the gene for a disease into effective therapy has been uncommon.Some disorders with substantial genetic components such as schizophreniaand autism probably result from developmental processes thatare difficult to manipulate, and eugenic intervention will beeasier than developing medical or gene therapy. The genomicera will also be an era of eugenics.
Roger L. Albin, M.D. University of Michigan Ann Arbor, MI 48109-0585 ralbin{at}umich.edu
References
Guttmacher AE, Collins FS. Welcome to the genomic era. N Engl J Med 2003;349:996-998. [Free Full Text]
Kaback MM. Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model. Eur J Pediatr 2000;159:S192-S195.
Skvoreck J. The miracle game. New York: Alfred A. Knopf, 1991.
Kolata G. Using genetic tests, Ashkenazi Jews vanquish a disease. New York Times. February 18, 2003:F1.
Drs. Guttmacher and Collins reply: Dr. Albin's letter raisesan important issue: to what extent will the discovery of susceptibilitygenes for common disorders such as cancer, diabetes, obesity,autism, and schizophrenia lead to their use in the prenatalarena, resulting in the termination of pregnancies? Three factorsmilitate against this practice's becoming widespread: the predictivevalue of genetic testing for non-mendelian conditions will remainpoor, even when all the hereditary factors have been identified;public interest in using prenatal diagnosis and the terminationof pregnancy for disorders with less profound implications andless precise predictability than those associated with Tay–Sachsdisease will most likely be rather limited1; and knowledge ofthe relevant genetic pathways is expected to lead to more effectivetherapeutic interventions in the future.
We share a concern, however, about a related circumstance inwhich the widespread availability of preimplantation geneticdiagnosis might shift the balance toward "opting in" for "desirable"embryos, as opposed to "opting out" through the terminationof pregnancy. This topic is but one of many being studied bythe Ethical, Legal, and Social Implications program of the NationalHuman Genome Research Institute.2 Ultimately, the broad communitywill have to be the judge of the wisdom and ethics of such applications.
Francis S. Collins, M.D., Ph.D. Alan E. Guttmacher, M.D. National Human Genome Research Institute Bethesda, MD 20892
References
Lodder AE, Frets PG, Trijsburg RW, Meijers-Heijboer EJ, Klijn JGM, Niermeijer MF. Attitudes towards termination of pregnancy in subjects who underwent presymptomatic testing for the BRCA1/BRCA2 gene mutation in the Netherlands. J Med Genet 2000;37:883-884. [Free Full Text]
Collins FS, Green ED, Guttmacher AE, Guyer MS. A vision for the future of genomics research. Nature 2003;422:835-847. [CrossRef][Medline]
has written, "the past shows the potential of the future."3 Increasing knowledge of genetic contributions to disease increases opportunities for eugenic intervention. This is not a theoretical possibility; the organizations that sponsored screening for Tay–Sachs disease are expanding this program to include other genetic diseases that are relatively common among Ashkenazi Jews.4 To date, translation of the identification of the gene for a disease into effective therapy has been uncommon. Some disorders with substantial genetic components such as schizophrenia and autism probably result from developmental processes that are difficult to manipulate, and eugenic intervention will be easier than developing medical or gene therapy. The genomic era will also be an era of eugenics. 
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