Convergence is a word that has featured prominently in discussions around science and innovation in recent years. It generally appears in relation to emerging technologies, for example in the convergence of biology and information technologies in biotechnology; or in the convergence of IT and neuroscience in neurotechnology. The Council of Europe’s Committee on Bioethics launched a programme of work on converging/emerging technologies a few years ago, with a special focus on NBICs – nanotechnology, biotechnology (including genomics), information technology and cognitive sciences. The significance of this convergence is not only that scientific and technological disciplines that had seemed distinct are now becoming intertwined; but also that the different assumptions, values and visions that underpin the various disciplinary groups start to confront each other.
So convergence is not simply a technological phenomenon. We also see necessary convergence in different debates and discourses around science and technology, whether political, economic or bioethical. Today’s House of Commons Science and Technology Committee report, Genomics and genome editing in the NHS, is a good example of this. The report initially appears to have a relatively narrow focus – on genomics in the NHS – but it actually covers a much broader terrain on which ongoing discussions about genomic medicine and research also confront important questions around, for example, data use (and NHS data in particular); and the role of medical science in driving economic growth. As a colleague noted on reading it, “this is a timely skip along the fault lines produced when the tectonic plates of genomics, health care, and industrial strategy abut.” (P Mills, 2018)
Interestingly, it is also a point of convergence for a number of areas of our own work published in recent times – on biodata, emerging biotechnologies, non-invasive prenatal testing, whole genome sequencing of babies, genome editing, mitochondrial donation and the ’14-day rule’ on maintaining human embryos in culture, and indeed we have drawn on all of this resource in providing our own evidence to this Committee and to others.
The report itself provides a good overview of genomics in the NHS, and makes a number of sensible, realistic observations and recommendations. It also makes the important point that the line between treatment and research in healthcare is being blurred, if not erased, and that we need to rethink the model that constitutes the ‘social contract’ between state and citizens in this area. But my overriding sense is that the report serves to highlight how much work is still to be done, and how much debate is still needed, before we can really claim to know how genomic medicine should or will be implemented. To pick up a few areas that are yet undeveloped:
- As the report itself points out, the 100,000 Genomes Project is not yet complete and has not been evaluated, and the long-heralded potential of genomic medicine is still uncertain;
- Also uncertain is the value of more routine use of whole genome sequencing. Whilst it can be of great research value, currently it has clinical utility in a relatively small number of cases, and extending its use without appropriately trained staff across the NHS, and without attending to questions about secondary findings, for example, would be risky to say the least.
- The report makes pertinent remarks about how people are concerned about the possibility of genomic data being used by insurance companies. It is notable that they indicate that statutory controls should be considered if the current voluntary moratorium were to break down.
- The report notes that NHS patient data (and not just genomic data) will be increasingly important in facilitating further research. It recognises the difficulties around the type of consent that would be needed from patients to support that, and acknowledges the need to engage the public in considering future data use. But it falls a long way short of an adequate consideration of the difficulties here, both in the immediate question of how NHS data is shared, and the longer term question of how much more extensive genomic data gets used. These involve old – but unresolved – arguments, but two particular concerns are how the report understates the importance of patient and public involvement in developing approaches to, and governance of, data collection, storage and use; and how it fails to address the concern that many people have about the proposed economic exploitation of NHS data, including sharing it with commercial organisations.
- One is left with the feeling that ‘genome editing’ in the title and in Chapter 5 was bolted on in an effort to demonstrate timeliness. Or maybe the Committee simply ran out of time. In any event, the rather brisk run over this part of the terrain can only be seen as a marker for a much more extended debate that is already underway. Of course, our own contribution to it (as the Committee noted) started with our 2016 report, and will be revived with the publication this summer of a report on genome editing in human reproduction.
To say all of this is not to seek to play down the value of this report. It is a good, helpful contribution that will assist Parliamentarians and others in getting a better handle on some of the questions that they will need continually to address as genomics progresses in research and in the clinic.
Or to put it another way, it is a useful, if partial, account of some of the important issues with which we will all need to engage as we converge in the agora of public debate.
Thanks, Hugh, for this.
The term 'genomic medicine' seems to be considered exclusively on the human genome, and its consequently limited utility at present. Is there also consideration of genomic analysis of human disease pathogens? The Meningitis Research Foundation, for example, has funded a genome library of meningitis varieties, which greatly aids rapid identification so that patient can receive promptly the most appropriate antibiotic treatment. Surely, this is genomic medicine currently of great value in human health? I'm not aware of other instances.
Thanks Hugh, very helpful. I like the specifics of this proposal for public involvement, makes a change.
But I am seeing lots calls for public debate across tech - in AI, gene editing, self driving cars, etc etc. But I am increasingly not sure what that actually means. A few structured more dialogues, web scraping, etc. In relation to what specific decisions. When is enough enough, who pays etc and commits to do what with what they find?
I had to do something like this for Synbio and frankly was unsure what would be a good use of public time, I decided against recommending any 'ology' based research and focus, as you suggest here on specifics. But unsure who is actually listening, if anyone to any of it and how we can ensure they do! A glass half empty day I think today!