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To the Editor: As genetic technology evolves, physicians will find themselves called on to counsel patients about a rapidly increasing number of diseases for which genetic testing is available. The increased availability of testing raises new and complex ethical issues. Lack of familiarity with these issues may lead to profound and lifelong negative effects on patients, particularly children.

Methods
A 2-page survey to evaluate awareness of ethical issues related to genetic testing was developed and mailed to all medical students (n = 417) and primary care residents (n = 161) at the University of Massachusetts Medical School, Worcester, as well as 1000 randomly selected primary care physicians (250 pediatricians, obstetrician-gynecologists, family practitioners, and internists, respectively). The survey included 3 scenarios regarding requests for genetic testing:

(1) "Would you agree to order cystic fibrosis carrier testing on 3 healthy young children at the request of the father who recently discovered he was a carrier?" (There is a consensus among geneticists and ethicists that genetic testing should not be performed in minors unless there is a defined medical benefit that will occur during childhood.^1-2)

(2) "Would you agree to order pre-symptomatic Huntington Disease testing on the 6-year-old daughter of a man recently diagnosed with the disease at the request of her parents?" (Presymptomatic testing for Huntington disease status may have a profound and long-lasting negative effect on a child who is tested without consent. A consensus of geneticists, the International Huntington Association, and the World Federation of Neurology all agree that minors should not be tested for Huntington disease status at the parents' request.^{1, 3-4})

(3) "Would you agree to prenatal testing for a Duchenne Muscular Dystrophy carrier who does not want to inform her husband of the pregnancy because he would not agree with her decision to abort if the test were positive?" (By consensus, geneticists, ethicists, and obstetrician-gynecologists would preserve the mother's right to privacy and autonomy and not require that the husband be informed.^5-6)

Results
The overall response rate was 53% for practitioners (n = 532), 56% for residents (n = 90), and 59% for medical students (n = 247). For all 3 scenarios, a minority of the sample provided the normatively correct response (Table 1), and practitioners were significantly more likely to provide incorrect responses to each of the 3 items than were residents and medical students (Table 2).

View this table: [in this window] [in a new window] Table 1. Total Response to Clinical Scenario Survey

View this table: [in this window] [in a new window] Table 2. Incorrect Responses by Level of Training

Comment
This study demonstrates a disturbing lack of familiarity with the ethical principles involved in genetic testing. In each scenario, practitioners were less likely to conform to expected standards than were trainees. While medical schools have made innovative curriculum changes to increase awareness of genetic testing and its ethical implications, future educational efforts need to expand to include training of practicing physicians.

AUTHOR INFORMATION
Funding/Support: Support for this analysis was provided by a grant from the Generalist Physician Initiative.

Acknowledgment: We thank Marji Warfield, PhD, for her assistance with statistical analyses.

Laurie A. Demmer, MD; Mary J. O'Neill, MD; Amy E. Roberts, MD
Department of Pediatrics

Marjorie C. Clay, PhD
Office of Ethics
University of Massachusetts Medical School
Worcester

1. American Society of Human Genetics Board of Directors and The American College of Medical Genetics Board of Directors. Points to consider: ethical, legal and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet. 1995;57:1233-1241. PUBMED 2. Genetic testing for cystic fibrosis: National Institutes of Health Consensus Development Conference Statement on Genetic Testing for Cystic Fibrosis. Arch Intern Med. 1999;159:1529-1539. FREE FULL TEXT 3. International Huntington Association (INA) and the World Federation of Neurology (WFN) Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's Disease. Neurology. 1994;44:1533-1536. FREE FULL TEXT 4. Bloch M, Hayden M. Opinion: predictive testing for Huntington disease in childhood: challenges and implications. Am J Hum Genet. 1990;46:1-4. PUBMED 5. Feitshans IL. Genetics: legislating to preserve women's autonomy during pregnancy. Med Law. 1995;14:397-412. PUBMED 6. Schenker JG, Eisenberg VH. Ethical issues related to reproduction control and women's health. Int J Gynaecol Obstet. 1995;58:167-176.

Letters Section Editors: Stephen J. Lurie, MD, PhD, Senior Editor; Phil B. Fontanarosa, MD, Executive Deputy Editor.

JAMA. 2000;284:2595-2596.

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