New Guidance on Ethics in Genomic Medicine

Nicky Broyd

July 05, 2019

As genomic testing becomes more prevalent across medicine, updated guidance has been published concentrating on the real-life ethical issues posed by the tests.

Consent and confidentiality in genomic medicine comes from the Royal College of Physicians, Royal College of Pathologists, and British Society for Genetic Medicine and updates advice last published 8 years ago.

Medscape News UK spoke to one of the authors of the guidance, Anneke Lucassen, Professor and honorary consultant in clinical genetics, Faculty of Medicine, University of Southampton and Wessex Clinical Genetics Service, University Hospitals Southampton, and chair of the British Society for Genetic Medicine.

Q&A

What is included in the new guidance that wasn't there before?

It's been adapted for an age in which the technology is very different from the last guidance. The last guidance was the second edition published in 2011, when genomic medicine wasn't really on the horizon yet, or if it was, it was a little bit far away. Whereas now we've had the 100,000 Genome Project, and we've got the NHS launching the Genomic Medicine Service.

Broad genetic testing is much, much more common than the last time. It's no longer just the remit of a very small specialty called clinical genetics. It's now all specialties and general practice dealing with genomic medicine.

The particular issues around consent and confidentiality need to be made available to those broader specialties. A particular issue around consent and confidentiality can be boiled down to familial aspects, future predictions, and because the test is very broad, it might reveal very unexpected information that was not the reason for you doing the test.

They're the essential ones that I think the guidance is helpful for.

The NHS is on a path to fully embrace genomics. Do you think general practice is ready for the implications?

I think it's worth thinking about genomics in two steps. One is, is the technology there to deliver a quick and cheap analysis of your genetic code? And it is there. It's ready. It is phenomenally cheaper and quicker than it was just a few years ago. We can't get away from that. It will be available direct to consumer, to hospital specialties, etc. So essentially, everyone's got the availability of a much more powerful microscope than they had before.

The next step is to work out what it is that you see down that much more powerful microscope.

It's the interpretation of the genomic code that I think we may not all be ready for yet.

That interpretation isn't just a technical thing. It isn't just, 'oh, let's look it up in the dictionary and see what this means', because a particular variant might be very dependent on another variant, or a lifestyle factor.

It's hugely complex, and no, I don't think general practice or many mainstream specialties are ready for the interpretation bit. But today in order to get the interpretation right, they also need to think about the familial aspects and the predictive aspects of a test like this.

In the past, you might have had your cholesterol checked. If it was high, you alter your diet and you come back for another check.

With a genomic test, you get a readout form, and that's not going to change for the rest of your life.

So there's a different implication from that sort of testing.

What this guidance is trying to do is say, now we've got the technology sorted out, let's also think about the ethical issues that technology raises in practice.

I think those ethical issues aren't new from last time, but they just have a different focus as the technology has evolved.

Would you say that the familial aspects are the biggest ethical dilemma?

I wouldn't like to rank ethical dilemmas. I think they are worth considering. They can be

exaggerated hugely, because of course, the weaker the genetic factor, the less the familial predictiveness. But I think, in modern medicine, we are not very good at thinking about people other than the patient sitting in front of you. And that is what genetic medicine raises.

If I see a patient who has a very strongly predictive genetic test result, that does raise ethical issues about do I then have responsibilities to see whether other people need to be alerted of that fact?

I think that's one factor. But I think other ethical issues do result from having a genetic code that might reveal all sorts of incidental findings, or that might reveal something in a child about something that's not going to affect them until adulthood.

I think the guidance is there, through case histories, to try and alert people to what they might need to think about in their clinical encounters.

Is the most likely scenario a doctor requesting a genetic profile or does it cover patients who will have used a commercially available kit, concerned about something that is in their profile?

I think we'd want the guidance to be useful to both sets of issues. I think the second bit where people have had commercial testing is on the increase. And I think the NHS probably doesn't know very well yet what to do with commercial results, especially when the commercial testing was done for other reasons.

People testing to know about their ancestry, not health implications, but that throws up some health implications. I think the NHS is not yet very good at knowing quite how to handle those types of results.

I hope that the guidance will be useful for those as well when it raises issues that are relevant to consent or confidentiality. That's what we've tried to focus on – consent and confidentiality aspects around genomic medicine, regardless of whether it's the NHS or direct to consumer testing: if the clinician is faced with those issues, what do they do?

The guidance includes real life issues and examples. So, how important is it to give those examples, or is every scenario in some way unique?

I think both are true. Every scenario is in some way unique and what we use are real-life examples (or composite cases from real-life) to illustrate the different things that clinicians will need to think about. So that's health professionals, broadly speaking nurses, genetic counsellors, and mainstream and specialist clinical geneticists, general practice, but also laboratory scientists. And we talk about general principles around consent and confidentiality and then the case histories are to illustrate how that might arise.

We've got 17 different case histories and all pose overlapping real-life issues.

The guidance is aiming to dispel common misconceptions about consent and confidentiality. What are those misconceptions and how do you address them?

I think probably the foreword from Professor Sir Jonathan Montgomery encapsulates that quite well. He says something about the assumption that confidentiality is absolute, is as inappropriate as the assumption that it should always be communicated to family members.

I think in busy clinical practice, it's very common for people to look for rules to tell them what to do. What we're trying to illustrate through the case histories, is to say, well, most rules are guidelines and you need to apply them to the particular circumstances of your case. So to say, 'thou shalt not do that' or 'thou must do that', it's rarely going to be as simple as that, it needs to be nuanced; you need to consider the individual case and you need to do that in a multidisciplinary way so that you can look at it from different perspectives.

And that's where we recommend that people go to their hospital clinical ethics committee, not a research committee, or the national Genethics Forum, where people bring up difficult issues around consent and confidentiality, and then hear the perspectives of other people around the country.

The classic example that everyone is worried about at the moment is around the court case that's going to happen later on this year where a woman is suing for negligence because she thought her father's doctors should have disclosed that she was at risk [of Huntington's disease before she went on to give birth]. That's a classic familial communication. Some clinicians will say, obviously the father's confidentiality was paramount, and other people say, obviously she had a right to know. Both of those might be true, you've still got to manage them. The misconception there, I think, is thinking that there's one rule, when, in a family, that one rule can't be applied equally to the interests of different family members.

Will the guidance need constant updating as different cases come to light?

We're giving general principles here and key points around cases rather than saying in this particular circumstance, you must do this. We hope that those general principles will remain relevant for some time, but that the case histories will allow people to see what we mean about contextual information rather than a dry set of guidance that might not be as easily interpreted, because people don't quite know what situations it relates to.

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