Incidental Findings and Informed Consent A new set of recommendations for laboratories performing clinical genome sequencing breaks from some longstanding medical precedents. Interview with George Annas In March, the American College of Medical Genetics and Genomics (ACMG) released its recommendations on the handling and return of incidental findings in clinical sequencing, arguing that laboratories have “an obligation to report clinically beneficial incidental findings.” George J. Annas, JD, MPH is Chair of Health Law, Bioethics & Human Rights at Boston University School of Public Health – and co-author of a recent paper published in Science criticizing the ACMG recommendations.
GeneWatch: I think even the people involved in writing or approving the ACMG recommendations must have known they were pretty bold. Was there anything in them that particularly surprised you? George Annas: The main thing that surprised me is that they want to do away with informed consent. Actually, that didn’t surprise me, it shocked me. There’s no reason to do that. The medical profession gets to set the standard of care; they do not get to say whether patients can refuse treatment. That’s done by the law. It’s not a matter left to physicians. Even if a physician knows exactly how to save your life, the physician can’t do it unless you agree. Their whole premise in these recommendations is: “This could save your life, so we’re going to do it, whether you want us to or not. It’s so important that we—the doctors— get to decide.” They really seem to believe that. I’m not arguing that genomic information is not important information, but it’s more important to me, the patient, than it is to you, 40 GeneWatch
the doctor. This is my life we’re talking about, not yours! That’s the whole basis for informed consent. That’s why the patient gets to decide. Do you think this becomes a legal issue, then, if doctors are giving patients information that they might not have wanted to hear? Well, the legal issue they’re worried about is: If they don’t do it, will they get sued? They say, “We already have the information, once we sequence your entire genome”—although it’s not clear that these recommendations only apply to whole genome or exome sequencing, but assuming they do—”we have the information, now it’s only a matter of looking at it.” And they’re afraid if they don’t look for these certain genetic markers, a patient who finds out later that they have a condition that could have been detected this way could come back and sue the doctor for not looking and telling them about it. That is really what they’re worried about: liability. But they don’t seem to understand they’ve also got liability the other way, for testing without consent. Do you think there are legitimate concerns about patients making bad decisions? They’re not geneticists, so isn’t there a danger that patients could refuse testing based on bad information? That sounds like all the old paternalism arguments, where you wouldn’t need consent for surgery, for HIV testing, for anything the doctor
thinks you need and is afraid you will refuse! Would doctors prefer never to get consent? Some would, apparently, but most understand that this is an absolute requirement of the doctor-patient relationship, and is fundamental to any trust in the doctor-patient relationship. Put another way: What is a patient’s reasonable expectation? Is it reasonable for the patient to assume: “If they’re doing any genomic screening on me, they’re going to do these 57 other things?” Patients don’t know what’s going on unless you tell them; and I think you have a legal and ethical obligation to tell them. But there’s a common response to that, the analogy of the chest X-ray: If you get a chest X-ray because you have pneumonia and they find lung cancer, they’re going to tell you about it. That’s the analogy they use, but this is nothing at all like an X-ray. I really don’t know how they can, with a straight face, use the X-ray analogy. If you are doing a chest X-ray and you find something that you weren’t looking for, it’s accidental. You didn’t go in looking for it—which is exactly what these recommendations are saying labs should do in genomic tests, that is, look for 57 specific things. This might be a little off topic, but are you familiar with the gorilla study? You watch a video with people passing a basketball back and forth, and they ask you to count how many times they pass the ball. And in the middle of this – May-July 2013