As DNA sequencing becomes more common, providers face a dilemma over how much information they should reveal to their patients about their risks for untreatable conditions.
Clinics and research groups that perform genetic testing typically limit their reporting to 59 gene variants recommended by the American College of Medical Genetics and Genomics. The list includes certain disease-causing variants for heart disease or breast cancer, for example, but not variants for conditions that aren't treatable, such as amyotrophic lateral sclerosis or Alzheimer's disease. As such, test results usually include only information that is "medically actionable."
To some providers, this limitation makes sense. They argue that giving patients results about genetic traits that aren't fully understood or medically actionable could lead patients to seek unnecessary or harmful care, or worry about a disease they may never get.
For similar reasons, NIH's All of Us genetic testing research program doesn't plan on returning results to patients that researchers deem not to be actionable. Brad Ozenberger, genomics program director for All of Us, said, "We don't want to frighten people, have them potentially change medical care, unless we're really confident in that result."
Separately, Keith Stewart, director of the Mayo Clinic's Center for Individualized Medicine, said, "There is a risk of causing undue anxiety."
However, some providers argue researchers shouldn't pick and choose what genetic information they provide to their patients.
Robert Green, a geneticist and professor at Harvard Medical School, said, "It's their body and their DNA. We have a responsibility to scientific truth and clear communication."
Studies have found patients want this information as well. For example, a 2016 paper in the Journal of Genetic Counseling found that 72.5% of research participants surveyed wanted to receive all of their genetic testing results—even those related to untreatable conditions.
Green published a separate study in the New England Journal of Medicine involving patients who were told they had a genetic risk of Alzheimer's disease. Although patients experienced "transient, modest distress," 98% said they would get their test results again.
Similarly, last year, Geisinger, a health system in Pennsylvania, started offering some patients information about their genetic risks for brain disorders, including some conditions that are largely untreatable, the Journal reports. Almost 90% of the patients said they wanted the results.
Sara Kirkland, a participant in Geisinger's sequencing program, said of the decision, "Am I total comfortable? No. But I'm rarely comfortable with any decision we reach because this stuff is really complex. I am willing to say that it is a responsible approach to take" (Evans/Wilde Mathews, Wall Street Journal, 10/4; Owens, "Vitals," Axios, 10/7).
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