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Despite such limitations, has the risk information that volunteers have received saved lives? Anecdotally, the answer is yes. “I was a little surprised that I had the melanoma gene,” one woman told the CPMC in an interview for one of their first published studies, “so I went to a dermatologist after that to get a full body check… I had a mole removed… that turned out to be melanoma. Now I’m here with no melanoma because it was stage zero.” Another patient, according to the CPMC’s study, joined a National Institutes of Health–funded clinical trial to address macular degeneration after learning his risks. But Coriell does not yet have data to show the full health effects of their genetic profiling.
What is known is that, upon entering the study, half of the volunteers believe they will share their results with doctors. But only a third do, Gordon says, even though almost every participant receives information about some elevated risk. Those who talk to their doctors about their results often do so based on their perception of risk, which may be very different from their actual risk. When it comes to danger, people see what they want to see.
Nevertheless, almost everyone is grateful to have learned their risks: 88% of the people interviewed for a Coriell study felt reassurance or acceptance upon learning their results.
But there are some disease risks — even serious ones — that the CPMC deliberately keeps from participants.
According to the study’s guidelines, only “potentially medically actionable” information — about diseases that are treatable or preventable — is released to volunteers. The CPMC’s independent boards meet twice a year to decide which information to release and which to withhold. Their rationale can be subtle. Recently they agreed to update people on their risk for lupus because the disease, while not preventable, is hard to diagnose, leading patients to spend months or years trying to pin down their illness. However, the boards rejected releasing participant risk for psoriasis because the skin condition cannot be prevented and is easily detectable once present.
This policy is an approach that, though controversial, follows the majority view of the bioethics community.
Lisa Parker, a professor of bioethics at the University of Pittsburgh, says that when someone finds they have an actionable medical condition “there’s a social consensus about how to proceed,” with treatments like medicine, surgery or change of lifestyle. But with an untreatable illness, doctors worry that, beyond their inability to help, they may do harm.
Studies have found that people who learn that they are fated to be afflicted by a fatal disease may not respond well to the news. Huntington’s disease is a case in point, though its mutation is not one that the CPMC looks for. A study found that patients who learned they would get the fatal irreversible neurological disorder had a highly elevated risk for depression in the year following their results. Most people don’t even want to know: According to a recent survey, only 5 to 10% of those with a parent stricken with the disease get tested, though the vast majority are aware that they have a 50% chance of carrying the genetic time bomb.
Still, Arthur Caplan, director of medical ethics at NYU and a member of one of Coriell’s independent boards, believes that if given the chance to speak to a genetic counselor first, as is the case in the CPMC, patients should be able to view even non-actionable results. Parker agrees: “There is not a blanket strong reason to withhold the option of such information.”
The policy has left some participants frustrated. One woman interviewed by Coriell said she was not reassured by her results, in part because “I don’t know what else there is that you didn’t report on.”
Hershel Richman said participants should be able to learn all results and that Coriell’s safeguards already assured that people would not get information they did not want to know. In the end, though, he concluded that he would “rely on [Coriell’s] good judgment.”
Contact Doni Bloomfield at firstname.lastname@example.org