Why Test Children for Adult-Onset Genetic Diseases?
ROSAMOND RHODES, PH.D.
Address all correspondence to Rosamond Rhodes, Ph.D., Professor of Medical Education and Director, Bioethics Education, Box 1108, Mount Sinai School of Medicine, One East 100th Street, New York, NY 10029.
Presented at the Mount Sinai Medical Conference on Pediatric Ethics, at Mount Sinai School of Medicine, New York, NY, on January 30, 2004, and updated as of December 2005.
The genetics community has developed guidelines recommending that predictive testing of children for adult-onset genetic conditions should be withheld. Genetics policy makers have maintained that their restriction of predictive testing of children is justified because (a) it shows respect for children’s autonomy and confidentiality, (b) it protects children from harm, and (c) there are no compensating benefits of testing when no effective treatment for the condition is available. Although this approach seems reasonable on its face, a careful examination of the arguments shows that each of the three justifications for restricting testing is flawed. Specifically, I argue that the consensus position is not justified because (a) the appeal to autonomy in this context is baseless and confused, (b) there is no evidence of harm from disclosure, and (c) the claim that there are no benefits from early testing is based on an unjustifiably narrow view of benefits that ignores significant advantages that testing actually provides. Ultimately, for reasons that pediatricians usually consider important, I argue that pediatricians should encourage parents to pursue genetic testing of children at a young age.
Key Words: Genetic testing, predictive testing, adult-onset genetic diseases, genetic diseases.
THE MOUNT SINAI JOURNAL OF MEDICINE Vol. 73 No. 3 May 2006
PERHAPS AS A RESPONSE to the history of eugenics and perhaps as an attempt to distance modern genetics from that history, the community of genetics researchers, clinical geneticists, and genetics counselors has been remarkably proactive in considering the ethical implications of human genetics. They have identified principles for guiding their practice and developed policies, points to consider, and guidelines for helping practitioners to navigate their rapidly developing ethically hazardous clinical domain. As background to their efforts, the genetics community has implicitly endorsed three underlying precepts: (a) genetic information can be a significant medical and psychological benefit to patients/clients, (b) genetic information can help patients/clients to avoid significant harms, and (c) respect for autonomy is of special ethical importance. Based on these presumptions, the genetics community has developed a number of more specific and explicit principles for guiding their clinical practice:
- Tolerance of other reasonable points of view.
- Non-judgmental regard.
- Non-directive counseling.
- Informed consent.
These principles echo the ethical commitments that Western medicine has embraced, and they reflect the current consensus of medical ethics.