Predictive testing in minors: A new — and growing — ethical challenge for providers
Direct-to-consumer tests are “game-changer”
Virtually any predictive test that can be done on an adult can be done on a minor, from tests for Huntington’s disease to breast and ovarian cancer to schizophrenia, but “the question is not whether we can, but whether we should,” says John Lantos, MD, director of the Children’s Mercy Bioethics Center in Kansas City, MO. Lantos says the current era “will be an era of rapid change, phenomenal discovery, and large risks for children.”
While some argue that testing young people for adult-onset conditions in which no prevention or treatment is possible should be avoided until young people are old enough to make more mature decisions as adults. Others argue that for some young people, particularly those who actively seek testing, predictive testing could be beneficial from a psychosocial perspective.
“The debate about predictive genetic testing in young people has been ongoing for about two decades now. Over this time, arguments have been made on both sides of the fence,” says Rony Duncan, PhD, Senior Research Fellow at the Murdoch Childrens Research Institute’s Centre for Adolescent Health in Victoria, Australia.
It has long been common practice that physicians did not test children for adult-onset disorders, under the rationale that since there was nothing that could be done during childhood, the child should have an opportunity to make an autonomous decision about whether he or she wants to receive that information when they reach adulthood, notes Amy L. McGuire, JD, PhD, Leon Jaworski Professor of Biomedical Ethics and director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine in Houston, TX.
“Until we can add some empirical evidence to this ongoing debate, I suspect not much will change in terms of international guidelines recommending against testing. Therefore, I hope that one of the developments we see going forward is the generation of empirical evidence about what actually happens psychosocially for adolescents who undergo predictive testing for adult-onset conditions that can’t be prevented or treated over the long term,” says Duncan. “Only in this way can our guidelines be truly evidence-based.”
More often, parents are requesting genetic information about their children, even if it is unrelated to childhood diseases, adds McGuire. “If they are refused testing, parents now have the option of obtaining genetic information about their children directly from a direct-to-consumer genetic testing company,” she says. “This is a game-changer.” Physicians will be challenged to provide appropriate education, support, and follow-up testing for children who receive results outside of the medical system, she adds.
“Although online tests are still quite expensive for many people, they do raise questions about how much longer we can control who does and who does not access genetic testing,” says Duncan.
Validity and reliability, the ability of consumers to interpret complex genetic information and multifactorial risk assessments, and how useful they are clinically are key ethical concerns with direct-to-consumer genetic testing, according to Katherine Wasson, PhD, MPH, director of the Bioethics & Professionalism Honors Program at Loyola University’s Neiswanger Institute for Bioethics in Maywood, IL. “Will these tests do harm to people, or will people make decisions based on false-positive or false-negative results?” she asks.
For example, a woman might decide to have a mastectomy if she receives results indicating she is at high risk for breast cancer, or might be less vigilant about preventive health measures if test results indicate she is at low risk for heart disease. “Others argue that this type of testing won’t make a strong impact on individuals one way or another,” says Wasson. “Consumers are motivated by curiosity and wanting to know about their own disease risks, but may not do much with the information.”1-2
More predictive tests will become available in the coming months and years, and more parents will be aware of the tests, predicts Lantos. “More situations will arise in which complex family dynamics make testing seem like a reasonable option,” he says.
While research likely will identify more situations in which predictive tests have medical implications for the child during childhood or adolescence, evidence might indicate that some tests aren’t very useful or have more false positives than true positives. “Parents will think that kids are destined to develop some dreaded disease, but they will never develop that disease,” says Lantos. “Even with true positives, they may lead to changes in the way children are treated that are not justified by the test results.”
Since for many diseases the tests report risks and not certainties, and the risks can be very low, the utility of the information is questionable, says Josephine Johnston, director of research at the Hastings Center in Garrison, NY. “How much will the test really tell us? We need to be careful that we don’t ‘oversell’ these tests. We must be realistic about what they can and cannot tell us.”
Whole genome analysis opens the door to detecting all sorts of genetic risk factors in anyone tested — embryos, fetuses, children, or adults, adds Johnston. “Since we know so little about what the genetic data means — many identified genetic risk factors account for a very small increase or decrease in individual risk — we’re likely to have lots of genetic data well before we know what it really means.” Another ethical concern is what happens to the information and who has access to it. “Is there a risk that it could be used against the child now or later in life? These risks need to be taken into account before testing is performed,” says Johnston.
Is there a medical benefit?
Minors who have a family history of a genetic condition are able to undergo predictive genetic testing for most conditions that present prior to adulthood, where there is a medical benefit to the test, says Duncan. For instance, adolescents routinely undergo predictive testing for familial adenomatous polyposis, a bowel cancer predisposition syndrome, because if they are found to be at risk, they can then undergo regular bowel screening and, hopefully, avoid ever developing bowel cancer.
“But for conditions where there is no way to prevent or treat them, predictive testing in children and adolescents is generally recommended against until young people reach the age of majority,” says Duncan.
There might be circumstances under which it is important for parents to know something about the child’s risk for adult-onset conditions, says Johnston, “but I think this needs to be really carefully thought through. Will the child be helped now by this test — and how?”
Right not to know
Many people prefer not to know their genetic risk factors — sometimes referred to as the “right” not to know — and some testing of minors could deny them the opportunity to exercise that choice, argues Johnston.
“There is a concern about autonomy, in that if we allow mature minors to make decisions about testing before they have the full cognitive capacity to do so, we’ll be threatening their future autonomy to make a decision about testing as a competent adult, thus possibly removing their right not to know this information later in life,” says Duncan.
There is a concern that if children or adolescents find out they will develop a genetic condition later in life, this will be psychologically and socially harmful to them in a range of ways — not just as a consequence of their own reactions, but also because of the way that others — for example, their family or employers — might treat them differently, says Duncan.
“Emerging evidence in this field is, in fact, demonstrating a very different story though,” she says. “Interviews with adolescents who have undergone testing demonstrates that, for those who actively come forward to seek testing and do so with associated counseling, testing can relieve psychological distress and enhance life plans. Critically, evidence is also emerging to demonstrate that refusing to test adolescents who have a strong desire to know their gene status can be psychologically distressing for them.”3,4
- Wasson K, Hogan, NS, Sanders TN, et al. Primary care patients’ attitudes and decision-making process regarding direct-to-consumer personalized genome testing. American Journal of Bioethics Primary Research 2012;3(2):24-35.
- Wasson K. Consumer Alert: Ethical issues raised by the sale of genetic tests directly to consumers. American Journal of Bioethics 2008;8(6):16-18.
- Mand C, Gillam L, Duncan RE, et al. “It was the missing piece”: Adolescent experiences of predictive genetic testing for adult onset conditions.” Genetics in Medicine, In Press.
- Duncan RE, Savulescu J, Gillam L, et al. “Holding your breath”: Interviews with young people who have undergone predictive genetic testing for Huntington disease. American Journal of Medical Genetics 2007;143A:1984-1989.
- Rony Duncan, PhD, Senior Research Fellow, Centre for Adolescent Health, Murdoch Childrens Research Institute, The Royal Children’s Hospital, Victoria, Australia. E-mail: email@example.com.
- Josephine Johnston, Director of Research/Research Scholar, The Hastings Center, Garrison, NY. Phone: (845) 424-4040 ext. 208. E-mail: firstname.lastname@example.org.
- John Lantos, MD, Director, Children’s Mercy Bioethics Center, Kansas City, MO. Phone: (816) 701-5283. E-mail: email@example.com.
- Amy L. McGuire, JD, PhD, Leon Jaworski Professor of Biomedical Ethics/Director, Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX. Phone: (713) 798-2029. E-mail: firstname.lastname@example.org.
- Katherine Wasson, PhD, MPH, Director, Bioethics & Professionalism Honors Program, Neiswanger Institute for Bioethics, Loyola University Chicago, Maywood, IL. Phone: (708) 327-9201. E-mail: email@example.com.