By CRG staff - 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, 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 -

Oh, in the middle of it a gorilla marches out onto the court!

Right, and at the end they ask you "Did you see the gorilla?" And about half the people don't see it.

So there was another study where the researchers made a bunch of X-rays and gave them to 23 radiologists to read, and there was a little gorilla in the corner of the X-ray. Once you see it, you can't miss it, but 83% of the radiologists  didn't see the gorilla. They went in looking for lung nodules and they didn't catch what would have been an "incidental finding" - the gorilla. So X-rays are a bad analogy for incidental findings in genome sequencing. They're not talking about results you just stumble across; they're talking about results that you specifically search for. That's not "incidental."

The X-ray analogy is used to make genome sequencing seem similar to other medical testing, but there are also arguments coming from the same places for why genetics is fundamentally different.

They're trying to make two arguments at the same time. One is that the genome is unprecedented, we've never had anything like this before, it's magic, it can help save your life ... and the other is that the genome is just like regular medicine, like an X-ray or cholesterol screening, so we shouldn't treat it differently. Except for informed consent, apparently!

It's instructive to see the European incidental findings guidelines, which also came out this year. The Europeans spent a couple years working on this - they involved the public, had open meetings, and they posted the first draft on their website last July for comments. The ACMG didn't do any of this. It wasn't a secret process, but they didn't open it up to the public either. They're working on the right subject, but they didn't do it right, and that's partly how they came to bizarre conclusions about informed consent.

If you read the European recommendations, they're about how to do informed consent in this context, not how to get rid of it. And they understand that the recommendations they make about adults are going to have implications for children, for newborn screening and pre-natal screening, and they think children should continue to be treated separately.

That's the other big change in the ACMG recommendations: They propose treating children like adults. Which is strange ... it just comes from nowhere. No one has ever seriously suggested that before.

Those are the two radical parts of this: Doing away with consent, and testing children for adult-onset diseases. After that, they make some good points. In fact, if they had put this out as a discussion paper, I'd say great, we need to discuss this! But to put them out in this form, as guidelines, is at best premature.

Here's the real question: If this "incidental" screening is such a good idea, why don't you tell the patients about it?

Here's a counter-question, then: Why would a patient want to turn down something that could save their life?

One answer is that patients can turn down a test for any reason. They don't need a reason - it's the patient's decision. I was involved in an early study about the Huntington gene, and almost everybody in the genetics community said that as soon as we nail this gene down, everyone who is at risk for Huntington's is going to want to be screened. It turned out that almost nobody who is at risk for Huntington's wants to be screened. People really didn't want to know.

This didn't make sense to some doctors. The assumption is that people will want to know, but it's not that simple. The right not to know is not trivial - it's really important, like the right to refuse treatment. A doctor might say, "Why would you ever refuse treatment?" Well, a lot of people might just not want the treatment. They might rather not go through it, whether it's an amputation or chemotherapy ... even dialysis, a lot of people just stop dialysis. Sometimes, for some people, the treatment is worse than death.

In any event, it's not for the patient to justify their decision, it's for the doctor to justify their decision - they can't just do things to the patient without consent. And for some doctors I think that's just a hard thing to accept. They believe in what they're doing, that they're doing good work - and they are doing good, they're trying to do what's best for the patient. But ultimately it has to be the patient who decides what's best for them.

We all know we're going to die, but Americans are pretty good at denying it. Some people would just rather not have to face the decisions that come with finding out you have a genetic predisposition toward something like breast cancer. Maybe they just want to go about their life and not worry about it. We might say "you're in denial" - and sure, maybe they are. But they have that right. Genomic screening can help make your life better - but without consent it can inflict information on patients that can also make their lives miserable. 

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