As more research is done on the human genome and more people seek genetic testing, researchers, physicians, genetic counselors and ethicists are struggling with the issues of how to present the new information to patients and whether certain findings should be presented at all. A paper published Monday in the leading journal Pediatrics tackles a controversial discovery that can come out of genetic testing: when a child’s biological parent turns out to be someone else. Whether that occurs through a switch at the hospital, a swap of embryos or sexual infidelity, genetic testing can bring such previously unknown facts to light. No matter the cause, it presents an ethical dilemma for medical professionals and one likely to become more common as genetic testing more more widespread. It has triggered a fierce and complex debate about whether parents — or those who might find out they are not true parents — have a right to know such information. In the Pediatrics paper, ethicists at the University of Pennsylvania argue in favor of letting the parents of patients know that these facts can generally be found in the course of a test but will not be revealed to them. “Because there isn’t a national consensus,” said co-author Autumn Fiester, director of education in the Department of Medical Ethics and Health Policy at the University of Pennsylvania, “getting a proactive policy that could prevent the harms that are taking place seemed like an imperative to address.” Without such a policy, Fiester said, after the tests are run, parents might be confronted with being told that there’s something they may need to know about their parentage. “Dangle something like that in front of any human being, and they’re going to be coerced to have that information, even if they will rue the day when they said yes,” she said. Current guidelines from the American Academy of Pediatrics and the American College of Medical Genetics and Genomics (ACMG) advise speaking to patients about the issue of incidental findings but do not recommend disclosure or nondisclosure. “I don’t think we’re ready to make a decision, but I think it’s really important for people and health care providers to be aware of this, to discuss it when testing is done and to discuss as a community whether we can come to some sort of agreement,” said Dr. Gail Herman, president of the ACMG and principal investigator for the Center for Molecular and Human Genetics at Nationwide Children’s Hospital in Columbus, Ohio.

Because there isn’t a national consensus, getting a proactive policy that could prevent the harms that are taking place seemed like an imperative to address. Autumn Fiester medical ethics department, Univ. of Pennsylvania

Some in the field applauded the Penn paper for advancing a position but said further discussion is needed. While nondisclosure may be a good idea for avoiding family problems, there need to be some exceptions, said Arthur Caplan, a professor of bioethics at NYU Langone Medical Center and formerly of the University of Pennsylvania. For example, lab technicians may see DNA that leads them to suspect rape or incest. This type of finding might need to be reported because of the possibility of sexual abuse. “I don’t agree that you would never reveal anything,” said Caplan. But, he added, “I absolutely agree that every program needs to have in place a firm policy about disclosure of this and other incidental findings.” Others disagree entirely with the idea of universal nondisclosure, arguing that disclosure should be the default rather than leaving the patient and parents ignorant. “You’d have to prove in this case why one would not disclose,” said Kathy Kinlaw, associate director of the Emory Center for Ethics. Given the rapid progress in technology, she said, more testing could be done later that reveals nonparentage and erodes someone’s trust in the medical system. Additionally, she said, nondisclosure policies would lead to an increase in parental testing, requiring an extra step and additional cost for already available information. Kinlaw also expressed concerns that while the stated goal of the policy is to allow people more choice in what they learn, it removes other options. This can occur when gene testing reveals a switch in the nursery or IVF clinic and the baby is the biological child of other parents. “If there are other biological parents involved, why do we assume they don’t have any right to pursue custody?” said Kinlaw. “Maybe we don’t need to make that kind of paternalistic assumption.”

Even though you say you won’t disclose, you may need to warn the authorities. I don’t agree that you would never reveal anything ... I absolutely agree that every program needs to have in place a firm policy about disclosure of this and other incidental findings. Arthur Caplan NYU Langone Medical Center