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.
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.
NYU Langone Medical Center
Juli Bollinger, who trained as a genetic counselor and is part of the Berman Institute’s Genetics and Public Policy Center at Johns Hopkins University, questioned the practicality of universal nondisclosure, in part because even if policymakers agree on the basic concept, it’s difficult to implement because of how results are handled and how often people might choose to get tested.
Though a number of reasons exist for children having medical conditions that were unexpected on the basis of testing of their parents' genes, suspicions of nonparentage can arise. And with Medicare and Medicaid rule changes passed earlier this year, patients will have access to their original lab reports and can have results reinterpreted on their own — possibly discovering things that weren’t previously disclosed.
“You can’t not see what’s in front of you. You can choose not to ... interpret, but it’s there,” said Bollinger. “I just have a hard time with a blanket policy on this, because it’s very hard to say we’re not going to do this.”
And the possibility of later discovery may be a problem on both ends of the genetic test, as labs worry about legal liability and being able to do their jobs as well as possible.
“To put a lab in the position of universal nondisclosure is one that I think would cause a lot of problems,” said Madhuri Hedge, executive director of the Emory Genetics Laboratory. Instead, she said, the best policy is to evaluate on a case-by-case basis, as “these issues need to be discussed during the counseling process before the test is ordered.”
Part of the problem, she said, is that some gene tests used in labs look at the full genome, along with those of the parents, to understand where changes may be happening to cause a genetic illness. In some of those cases, the parents may even be aware of the possibility of nonparentage and could be providing more information helpful for the child. For example, Hedge recalled a recent case in which the father’s brother was the biological dad — a fact not initially shared with doctors that was suggested by testing and was later revealed to have been known by the parents.
Whether to disclose should be dealt with more individually, said Hedge, rather than through a rule of universal nondisclosure. “I feel it’s like sweeping it under the carpet so nobody has to deal with it, and the reality is someone is going to have to deal with it.”
While nonparentage can almost always be discovered in genetic testing, there are other possible explanations for those findings. This allows labs to say samples do not match rather than give a definitive reason that has a small chance of being incorrect.
“We do not have a formal policy but state that we will not be looking for nonparentage and will not report it definitively,” said Dr. Ada Hamosh, a professor in the pediatrics department and the Institute of Genetic Medicine at Johns Hopkins School of Medicine. “We also send parents who are looking to address this issue for definitive testing elsewhere.”
While she agreed with the idea of a universal policy, she said there is more discussion required.
“This is a very controversial subject. This is a very well-written paper,” said Hamosh. “[This is] not a bad solution. Now let the community weigh in.”