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Providers and researchers are increasingly faced with a difficult decision: Should they inform patients of genetic screening results, when patients did not specifically request such results?
"What is ethical’ in genomic research is still evolving," says Reed E. Pyeritz, MD, PhD, director of the Center for the Integration of Genetic Healthcare Technologies and professor of medicine and genetics at the University of Pennsylvania in Philadelphia.
Patients can be asked prior to any testing what information they would like to know. "However, their expression of preferences in the abstract or hypothetical context may not be what they really want when the information is available," says Lisa S. Parker, PhD, associate professor of human genetics and director of graduate education at the University of Pittsburgh’s Center for Bioethics and Health Law.
The principle of informed consent still applies, says Wylie Burke, MD, PhD, professor and chair of the Department of Bioethics and Humanities at University of Washington in Seattle, but "genomics raises some complexities." She recommends these practices:
Burke says this same principle applies to research participants. The analysis planned in the study should be specified in the informed consent process, so that an individual can decide whether or not to participate. "In research, there is the additional question of what research findings will be returned to the participant," notes Burke.
Researchers do not have a legal obligation to return research results to individual participants, and the degree to which they should do so is debated. "There is a growing consensus in the bioethics community that researchers should return results that are clinically significant and relevant for the participant’s health care," says Burke.
In 2013, the American College of Medical Genetics (ACMG) recommended that laboratories conducting whole genome or whole exome sequencing on a patient assess the presence or absence of 56 genes associated with 24 diseases, and return the results whether the patient wants the information or not.
"After criticism from many bioethicists, the ACMG revised its recommendations to allow patients to be given the possibility of opting out,’" says Robert Klitzman, MD, professor of psychiatry and director of the Bioethics Masters, online course, and certificate programs at Columbia University in New York City. Klitzman is author of Am I My Genes? Confronting Fate and Family Secrets in the Age of Genetic Testing (Oxford University Press).
However, physicians and researchers "may not all be as aware as they should be of these issues," Klitzman adds. "What they will do is thus unknown."
Additionally, some institutional review boards may require incidental findings associated with immediately treatable or preventable conditions be reported regardless of the patient’s wishes.
"Informing patients about particular tests that might be run, and allowing them to decide if they want these tests performed, will involve many complexities concerning risks and benefits and uncertainty," says Klitzman.
When physicians and researchers explain the possibility of "opting-out" to patients, he says, genetic counseling can help patients think through these decisions. "Yet such consent processes require resources that providers and researchers may feel they lack," Klitzman adds. "This poses challenges."
Incidental findings — information of potential health or reproductive significance that is beyond the aims of a research study or not directly relevant to a health condition for which clinical testing was undertaken — may arise whenever a gene panel test or exome or genome sequencing is performed.
Even single gene tests can reveal results suggesting unexpected family relationships, such as misattributed parentage. "Depending on the clinic’s policy, these findings may be returned along with the results being sought," says Parker. Parker says the most ethical approach is to ask patients what information they would want to receive if it was discovered in the course of looking for something else. "The right not to know is grounded in rights of self-determination and privacy," she underscores.
Researchers and providers sometimes want to pass along information to avoid being inappropriately blamed for withholding something that only in retrospect can be reasonably deemed valuable, to avoid being sued, or to avoid the discomfort of possessing information about someone that the person himself doesn’t know.
"Sometimes these professionals discover information about a potentially serious health risk about which a person could take action to mitigate that risk," says Parker. "It is very uncomfortable not to help prevent a harm to an identifiable person."
The threshold of seriousness of the condition and the probability that the condition will manifest should be high, says Parker, in order to justify seeking out a person to impart unexpected, unsought information.
"Clinicians and researchers should practice preventive ethics, and plan how they will manage incidental findings," advises Parker. She recommends these practices:
The plan may include options regarding what type of information they would want to have offered to them. "The plan should be focused on offering to return such findings if they are discovered in the future, rather than insisting that they be returned," says Parker.
"It is generally accepted that incidental findings that are the strongest candidates to be offered for return are those concerning a substantial risk for a serious health-related condition for which some preventive action is possible," says Parker.
ACMG’s list contains only highly predictive, medically actionable tests, notes Klitzman. However, other tests could be conducted — such as t
hat for Huntington’s disease, which is highly predictive, but for which there is no treatment; or Alzheimer’s disease, for which tests are less predictive, though also not clinically actionable.
"Dilemmas thus arise of what results should be offered — of where to draw the line between what genes are sufficiently predictive and actionable versus not," says Klitzman.
Increasingly, the lines between research and clinical service in genetic and genomic testing are blurring, says Pyeritz.
Researchers may lack the expertise, funding, or clinical staff to follow up with research subjects when potentially clinically relevant findings emerge. "The informed consent document should clearly state what will and will not be reported, and if a potentially actionable genetic variation is identified, what the research subject’s options are," says Pyeritz.
Many health care practitioners are not well-versed in genetics. "This has been shown in many surveys," says Pyeritz. "When any health care practitioner orders a genetic test without the ability to perform adequate pre- and post-test counseling, then the patient is under-served."