Should a healthy girl whose grandmother died of breast cancer andwhose mother has the causative gene be tested to see if she's at risk ofdeveloping the disease? Whose decision should that be? And how willthe family react to the results?The scenario was made possible last week by the discovery of theBRCA1 gene and by the expected development of genetic tests toidentify carriers of the breast cancer gene. (For more on BRCA1, seeBioWorld Today, Sept. 15, 16 and 19, p. 1.)The dilemma, said Philip Reilly, of the Shriver Center for MentalRetardation in Waltham, Mass., exemplifies the ethical, legal andpsychological concerns raised by the growing number of DNA-basedtests to identify genetic disorders presymptomatically."Usually, genetic testing of children is used for developing atreatment," he told BioWorld Today. "Now we can do predictivetesting. Genetic testing is revolutionizing our lives. It's going to requireus to rethink the way parents and children approach these issues."Reilly and Dorothy Wertz, both of the Shriver Center's Division ofSocial Science, Ethics and Law, are two of three authors of an article intoday's issue of the Journal of the American Medical Association(JAMA), titled "Genetic testing for children and adolescents: whodecides?"The third author is Joanna Fanos, of the California Pacific MedicalCenter's Medical Research Institute in San Francisco.The trio proposed guidelines for predictive testing and counseling ofchildren who undergo genetic evaluations, particularly when noimmediate medical benefit or useful information for makingreproductive decisions is involved. The authors also recommended thatphysicians balance children's rights against those of parents in decidingwhen to administer tests."These are guidelines for doctors and genetic counselors," Reilly said."I would not advocate any government guidelines."He added that he believes the article is the first of its kind in medicalliterature on the subject and will be part of what is certain to be aheated nationwide debate on predictive genetic testing of minors."The real thrust is aimed at exploring these issues in children frombirth to 18," he said. "We felt fetal testing is the prerogative of themother and did not want to get involved in a debate on that issue."The authors identified four categories of genetic testing for children:tests that have medical benefits, such as preventive or early treatmentof diseases; tests that enable minors considering marriage to discoverrisks of transferring genetic disorders to their offspring; tests with noclear benefits, but parents or children request it; and tests that benefit afamily member, such as determining compatibility for organ donations.The third category, which the authors compare to elective medicalprocedures, such as cosmetic surgery, raises the most troubling issues.Said Reilly, "There's always a cost to knowledge. If there's no clinicalbenefit, why get the test?"Elaine Strass, executive director of the American Society of HumanGenetics in Bethesda, Md., agreed with Reilly that the JAMA articleprobably is the first to discuss guidelines for genetic testing of childrenand that the issues are subjects of great debate. Her group also isdevising guidelines for medical professionals.Lynn Fleisher, a lawyer with the Chicago firm of Sidley and Austin, ischairwoman of the society's social issues committee and is overseeingthe project."There is tremendous controversy over whether and when childrenshould be tested,"Do Children Have A Right Not To Know?Fleisher said. "It goes to the heart of the patient and doctor relationship.Is the pediatric geneticist's duty to parents or is there a separate duty tothe children? And in that respect, should the doctor wait until the childbecomes an adult to authorize the test?"Not everyone wants to know. Adults can make that decision. But ifthe adult makes the decision for a child, it obviates that decision whenthe child becomes an adult."Guidelines, she said, should not dictate whether or not to test, but whenit is appropriate."This is a very complicated issue," she added, "and a very internalizedissue. It will get a lot of debate. Most parents have no idea of theimplications, such as insurability of a child (who has tested positive fora genetic disorder) or the child's ability to get a job."Once the information is part of a medical file, Fleisher observed, itcould have repercussions for the rest of the child's life.Authors of the JAMA article proposed guidelines for each of the fourcategories of genetic testing and, in general, concluded children'srights outweigh parents'."The physician should ask if the parental request is in the child's bestinterest," Reilly said.For tests to detect treatable conditions, the authors said, "Testing ofminors should proceed according to consent guidelines established forother medical treatments. Testing should be offered at the earliest agewhen health benefits accrue . . . If parents refuse testing that wouldbenefit the child, the problem could be handled under current childabuse statutes."The authors said that testing minors of reproductive age to help themmake decisions about having children of their own is one of the morecommon reasons for genetic testing.In the third category, testing when no clear clinical benefit exists, theauthors said the emotional maturity of the minor and the seriousness ofthe disease should be weighed. "Often," they said, "it may be advisableto defer testing until adulthood . . . Ordinarily competence should notbe assumed before the age of 15 years."Doctors Should, Sometimes, Refuse To TestThe authors also said, "Sometimes the physician must reject a request,whether from a parent or a minor, if in the physician's judgment itserves no useful purpose and may lead to harm." They used theexample of a "parental request to test a 7-year-old for predisposition tofamilial Alzheimer's disease." In general, they added, if the parentswant the test, but the minor does not, the physician or counselor shouldact as advocate for the child.In the fourth category, involving testing to benefit another familymember, such as compatibility for organ donation, the authors saidchildren over the age of 7 should be able to refuse. "In all cases," theauthors said, "the test should have a clear usefulness for others."Kathy Klinger, vice president of science for Integrated Genetics inFramingham, Mass., which develops genetic tests, said the JAMAarticle did a good job of synthesizing concerns about a complex issue."It's a very nice summation of the dilemma as the ability to diagnoseprecedes the ability to treat," she said. "It's clear what to do abouttesting when you have a therapeutic intervention to offer. The fartheryou get away from therapeutic intervention the more complex the issuebecomes."She said Integrated Genetics has developed ethical guidelines of itsown, such as not advocating tests for prenatal diagnosis of sex inpregnancies where no medical risk is involved.A research-related issue that could develop, she said, involves trying todevelop therapeutics to prevent genetic disease. "If you wanted to testtreatment protocols before the onset of the disease you would to dopredictive testing, which could involve minors." n
-- Charles Craig
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