Correspondence

Genetic Screening of Adolescents

N Engl J Med 1997; 337:639-640August 28, 1997

Article

To the Editor:

The statement by Dr. Motulsky (May 1 issue)1 that genetic screening of adolescents should not be hindered by concern about the possible misuse of genetic information evinces a serious misreading of current law. The debate continues among employers, care providers, insurers, ethicists, jurists, and legislators, and a workable consensus remains years away.2 Neither public health officials nor care providers can ensure that the results of genetic screening will remain confidential, nor can they protect patients who test positive for genetic anomalies from discrimination in either the workplace or access to health care.3 Furthermore, long-term, prospective studies must show that patients comply sufficiently with genetic counseling — for example, by finding an acceptable alternative to childbearing or selecting another spouse — to justify the costs associated with screening programs of the type Motulsky and others suggest.4 It may be premature to proceed with such programs without sufficient assurance that patients will be protected and proof that compliance justifies the psychosocial and economic costs.5

Gerard E. Spiegler, M.S.
West Virginia University, Charleston, WV 25301

5 References

1. 1

   Motulsky AG. Screening for genetic diseases. N Engl J Med 1997;336:1314-1316
   Full Text | Web of Science | Medline

2. 2

   Mariner WK. Liability for managed care decisions: the Employee Retirement Income Security Act (ERISA) and the uneven playing field. Am J Public Health 1996;86:863-869
   CrossRef | Web of Science | Medline

3. 3

   McClure H. The insurance industry's use of genetic information: legal and ethical concerns. J Health Hosp Law 1995;28:231-242
   Medline

4. 4

   Khoury MJ. From genes to public health: the applications of genetic technology in disease prevention. Am J Public Health 1996;86:1717-1722
   CrossRef | Web of Science | Medline

5. 5

   Kash KM. Psychosocial and ethical implications of defining genetic risk for cancers. Ann N Y Acad Sci 1995;768:41-52
   CrossRef | Web of Science | Medline

Author/Editor Response

Dr. Motulsky replies:

To the Editor: My editorial repeatedly and explicitly acknowledges the possibility of discrimination by health insurance providers against patients with genetic diseases and carriers of such diseases in the United States. Discrimination by medical personnel against the healthy carriers of recessive disease would make no medical or scientific sense. In discussing the justifiable costs and reproductive options associated with these programs, Mr. Spiegler does not mention the widely used option of selective abortion to avoid genetic conditions such as Tay–Sachs disease and thalassemia major, which I discussed. Furthermore, knowing one's carrier status before reproduction occurs permits the use of options other than the termination of pregnancy to avoid recessive diseases.

On balance, I suggested that concern about the possible misuse of genetic information should not hinder the careful development of testing among high-school students in appropriate settings. I joined another editorialist 1 in pointing out that the idea of screening adolescents for the heterozygous state of serious recessive diseases should not be dismissed outright. The advantages to the students as prospective parents may well outweigh the potential problems. At the same time, this approach is likely to lead to a substantial decline in the frequency of such diseases. As the editorial pointed out, carefully evaluated pilot studies of such screening, with attention to the psychosocial aspects, are essential.

In the context of health care outside the United States, the successful screening program in Montreal2 shows that concern about psychosocial costs of various types can be resolved by involving the community directly in the setting of a single-payer health insurance system.

Arno G. Motulsky, M.D.
University of Washington, Seattle, WA 98195

2 References

1. 1

   McCabe L. Efficacy of a targeted genetic screening program for adolescents. Am J Hum Genet 1996;59:762-763
   Web of Science | Medline

2. 2

   Mitchell JJ, Capua A, Clow C, Scriver CR. Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and β-thalassemia disease carriers in high schools. Am J Hum Genet 1996;59:793-798
   Web of Science | Medline

Citing Articles (2)

Citing Articles

1. 1

   Fiona Ulph, James Leong, Cris Glazebrook, Ellen Townsend. (2010) A qualitative study exploring genetic counsellors’ experiences of counselling children. European Journal of Human Genetics 18:10, 1090-1094
   CrossRef

2. 2

   Donna L. Dickenson. (1998) Consent in children. Current Opinion in Psychiatry 11:4, 389-393
   CrossRef