Discussion: Incidental findings

My name’s Anneke Lucassen. I’m Professor of Clinical Genetics at the University of Southampton and Consultant at the Wessex Clinical Genetics Service.

Hi, my name’s Mike Parker. I’m the Director of the Ethox Centre at the University of Oxford. And I have longstanding interest in the ethical issues arising in genetics and genomics. Hi, my name is Carwyn Rhys Hooper, and I’m a Senior Lecturer in Medical Ethics and Law at St.George’s University in London. When we talk about incidental findings, we’re actually talking about a whole range of different things all muddled together. And that’s why it’s very difficult to give– it’s a bit like nailing jelly to a wall, really, when you’re asked a question like that.

Because an incidental finding ranges from something that has a very clear intervention that’s treatable, but something can be done about, like, for example, you discover a risk of cancer that’s imminent and treatable, that you didn’t know anything about. That would be on one end of the spectrum, through to finding a gene that might increase the risk a little bit, through to a variant of unknown significance. And they’re all quite often in discussions lumped together as an incidental finding.

The reason why some people would hold the view that most information, perhaps all information, should be fed back to the patient is because we’ve essentially moved in clinical medicine towards a position where patients have, or think they have, the right to access information about themselves, in whatever form that takes. And so there’s a sense in which it’s almost slightly peculiar, almost going back to a different form of medicine that was practised in days gone by to think that clinicians should be playing a greater role in controlling the flow of information to patients. I think that’s right. And I think it’s– I mean obviously to some extent we’re having a broader discussion about health care information in a very broad sense.

And the question you asked us at the beginning, Shereen was about incidental findings. But an incidental finding is a kind of particular kind of information. It’s got lots of ambiguity and uncertainty about it that we talk about at the beginning. But the idea that it’s a finding suggests that what we’re interested in here is something that might be meaningful or useful to at least someone. It’s an argument– there’s an argument for a certain amount of paternalism in this space. I think that in some ways to be provocative about it, this is the kind of thing you do all the time in medicine. You know a patient comes in with a broken leg and says they want antihistamines to treat it.

You just say, I’m sorry, that doesn’t work. And then there will be other areas where perhaps there’s a bit of ambiguity. You have a conversation with them and you– I don’t mean paternalism in a negative sense. So obviously, when we talk about paternalistic medicine, we tend to talk about medicine, medical practises, historically, which we now consider to be inappropriate, where doctors are making decisions without involving patients where they should be involved. But I think it’s perfectly possible there are situations where it might be reasonable for the medical profession and the doctors to make a judgement about what counts as good practise.

And to say that there isn’t good evidence, that this is meaningful or useful information, we can have a discussion about it within the profession. We can develop guidelines and so on, but this is– and invite criticism of it and have a proper discussion– but nonetheless, say this is basically where we stand on this, and acknowledge that it might change over time. The difficulty, I suppose, is trying to fit that with the modern way of seeing things.

So with patients increasingly perhaps not agreeing with that way of seeing things, acknowledging perhaps to an extent there’s a degree of discretion, a degree of judgement that’s reasonable, but ever more willing to push for information to control their own health narrative, if you like. The arguments put across in terms of a positive paternalism seems to just run headlong into that train, if you like, that’s very much going in the other direction. And the risk, I suppose, for clinical geneticists and others is that this is going to be seen as an anomalous area. So most of medicine is going in one direction, and then this part of medicine is going in another direction.

And that might be justifiable, but it’s going to need to be handled very carefully. And I would imagine we increasingly will face situations where patients will push for more information, will not want the clinician to be playing that role of making the best-interest decision so much. And then how do you handle that? Essentially, you’ve got a new, better kit, simply, that’s much more sensitive than the previous kit. So it’s a bit like when we first introduced foetal ultrasound, and it wasn’t possible to do that detailed scanning on babies before. And the new scan picked up all sorts of things that it couldn’t pick up before that are now called soft signs.

And in the beginning, patients were told all of those, possibly increasing anxiety hugely. Now, that we’ve got more experience, we don’t do that, we don’t– we only disclose that information when we know there’s a certain combination of features that might result in problems in the baby.