Correspondence

Genomic Medicine

N Engl J Med 2003; 349:2170-2171November 27, 2003

Article

To the Editor:

In their editorial (Sept. 4 issue),1 Guttmacher and Collins provide a conventional and optimistic overview of the effects of genomics on clinical practice. Absent from their discussion is mention of the most common current use of genetics in clinical practice: negative eugenics. Testing for chromosomal disorders is routine in obstetrics and fertility medicine. The example of Tay–Sachs disease demonstrates that voluntary screening of the population and genetic counseling can have a substantial effect on the incidence of disease.2 As the novelist Josef Skvorecký 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.

Roger L. Albin, M.D.
University of Michigan, Ann Arbor, MI 48109-0585
ralbin@umich.edu

4 References

1. 1

   Guttmacher AE, Collins FS. Welcome to the genomic era. N Engl J Med 2003;349:996-998
   Full Text | Web of Science | Medline

2. 2

   Kaback MM. Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model. Eur J Pediatr 2000;159:S192-S195
   CrossRef | Web of Science | Medline

3. 3

   Skvorecký J. The miracle game. New York: Alfred A. Knopf, 1991.
   

4. 4

   Kolata G. Using genetic tests, Ashkenazi Jews vanquish a disease. New York Times. February 18, 2003:F1.
   

Author/Editor Response

Dr. Albin's letter raises an important issue: to what extent will the discovery of susceptibility genes for common disorders such as cancer, diabetes, obesity, autism, and schizophrenia lead to their use in the prenatal arena, resulting in the termination of pregnancies? Three factors militate against this practice's becoming widespread: the predictive value of genetic testing for non-mendelian conditions will remain poor, even when all the hereditary factors have been identified; public interest in using prenatal diagnosis and the termination of pregnancy for disorders with less profound implications and less precise predictability than those associated with Tay–Sachs disease will most likely be rather limited1; and knowledge of the relevant genetic pathways is expected to lead to more effective therapeutic interventions in the future.

We share a concern, however, about a related circumstance in which the widespread availability of preimplantation genetic diagnosis might shift the balance toward “opting in” for “desirable” embryos, as opposed to “opting out” through the termination of pregnancy. This topic is but one of many being studied by the Ethical, Legal, and Social Implications program of the National Human Genome Research Institute.2 Ultimately, the broad community will 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

2 References

1. 1

   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
   CrossRef | Web of Science | Medline

2. 2

   Collins FS, Green ED, Guttmacher AE, Guyer MS. A vision for the future of genomics research. Nature 2003;422:835-847
   CrossRef | Web of Science | Medline