Book Review

Assessing Genetic Risks: Implications for health and social policy

N Engl J Med 1995; 332:826-827March 23, 1995

Article

Assessing Genetic Risks: Implications for health and social policy
Edited by Lori B. Andrews, Jane E. Fullarton, Neil A. Holtzman, and Arno G. Motulsky. 338 pp. Washington, D.C., National Academy Press, 1994. $44.95. ISBN: 0-309-04798-6

Recently, a scientist who had cloned a gene for achondroplasia was asked by a reporter for National Public Radio to comment on the use of prenatal genetic testing by prospective parents with very short stature who wanted to be certain that all their future children would inherit the variant of this gene for dwarfism. The scientist's response clearly indicated that he was not prepared for this particular application of his discovery.

Most of us are in the same boat — unprepared for the inevitable, and potentially explosive, conflicts that will arise when the power to predict both disease states and physical and mental traits becomes accessible to people with the same mix of personal values, personal preferences, and even personal ambition and greed that people have always had.

If this seems a case of belaboring the obvious, turn your attention to Assessing Genetic Risks: Implications for Health and Social Policy, a recently published report of the Committee on Assessing Genetic Risks of the Institute of Medicine. Chaired by the distinguished medical geneticist Arno Motulsky, the committee included basic researchers, medical geneticists, genetic counselors, experts in law and ethics, and executives of the insurance industry. The biotechnology industry was represented at a remove, through presentations at the committee's several fact-finding hearings.

The committee was convened (reconvened, really, because a predecessor panel had issued a report in 1975) to discuss some of the moral and ethical issues made prominent by more than a decade of spectacular advances in human genetics. Under the general heading of eugenics, the battleground currently includes the remolding of the human genome (through the soon-to-be-acquired method of gene therapy) and genetic testing. The pace of technological change will allow us a little more time to deal with the former. The latter, which is coming hard upon us, was the committee's charge.

As for the particulars: Should a child be tested for a genetic disease that occurs only in adults, such as Huntington's disease or breast cancer? Should a child be tested for a carrier state? Can any circumstance justify the genetic testing of children? Should we sanction the mass screening of adults for genes that make slight contributions to late-onset diseases? What is the place of multiplex testing — the study of many gene loci at once? Who will have access to the test results? Should information gained through genetic testing influence access to health and life insurance?

Many of these questions would seem to have straightforward, common-sense answers, but four basic facts of life complicate the issues. Whatever the value of a given genetic test, there will be investigators who want to use it; patients (or people who believe they are at risk) who want themselves, their children, or their fetuses to be tested; companies that want to market it; and some group — scientific or fundamentalist — that wants to bury it. Trying to harmonize this chorus of screeching voices requires the intervention of a government panel.

Common sense has prevailed. Moreover, because this report is so much more timely than the one issued in 1975, we can hope that its effect on public policy will be correspondingly greater. For example, the committee concluded that there are few circumstances that justify the genetic testing of children. Test results should be completely confidential. The mass screening of adults should be abjured for the foreseeable future. (I wish them good luck with this recommendation. Genetic tests involving important health conditions and developed with substantial funding from industry will find a market. The best current example is that of BRCA1. With the cloning of this gene for breast cancer and the identification of disease-causing mutations, we will see a predictable pressure to commercialize the result through mass screening — even though no more than 1 woman in 200 carries a disease allele, and even though all such alleles account for no more than 5 percent of cases.)

The committe moved beyond these basic considerations to take on additional policy issues. For example, it presented a strong case for educating the public about genetics and the various ethical and policy questions derived therefrom. It outlined and defended in some detail recommendations for the education of professionals in genetics, as well as medical students and other health care professionals. It addressed (if somewhat whimsically) the question of how to pay for clinical testing and counseling. (Someone should.) Finally, it used an engaging series of informational boxes throughout the report to highlight technical, ethical, and policy issues. The topics included everything from “New Techniques in Prenatal Diagnosis” to “Issues in the Use of Language in Genetics.” Most of these boxes were quite informative; some, such as that on issues in the use of language, were entertaining.

Quite a few subjects about which this committee deliberated were also discussed by the panel convened in the 1970s. Though our current forms of technology were then only on the distant horizon, the new committee has certainly reaffirmed in detail the recommendations (and predictions) of its predecessor. Conclusion? A society that does not learn the lessons of previous government panels is doomed to repeat the hearings.

Theodore Krontiris, M.D.
New England Medical Center, Boston, MA 02111