'This House believes that everyone should have their whole genome sequenced at birth.' This was the motion discussed at The Great Genome Sequencing Debate at the Royal Institution on Wednesday 24 January, sponsored by the pharmaceutical firm Roche. The debate has arisen as a result of improvements in technology which means that whole genome sequencing (WGS) is now relatively affordable. At present, it only takes around 24 hours.
The debate, chaired Vivienne Parry –head of engagement at Genomics England – opened with a poll to gauge the position of the audience watching in the room and online. The room was split roughly evenly, while the online audience was two thirds in favour of the motion. I initially voted against the motion, largely based on concerns about privacy.
The panel consisted of two speakers in favour, Professor Anneke Lucassen and Dr Robert Green, and two speakers against, Dr Kat Arney and Dr Tara Clancy. I was surprised to find I was most persuaded by Professor Lucassen’s arguments. She saw WGS at birth as a resource that could be drawn on throughout the life course, as an alternative to repeated screening for various conditions and as a diagnostic and research resource.
Speaking on the issue that was my greatest concern, privacy, Dr Green presented evidence suggesting this was not well founded. He has been involved in research projects using genomic data for the past 15 years. He argued these demonstrated that genomic data can be held securely. He noted a number of benefits reported by participants in these studies, but claimed none felt they had been harmed by sharing their data. However, Dr Clancy raised the issue that this would not necessarily translate to the general public.
Again, I found Dr Lucassen’s position persuasive on this issue. She pointed out that there is already a great deal of medical information out there, but we don’t feel concerned about this, giving several examples such as the data from heel-prick tests. She also highlighted the strangeness of feeling we have a right to our genomic data, when we do not experience this feeling about other medical data, such as X-rays. While medical data is sensitive and, if it were to get into the wrong hands, potentially dangerous, she suggested that there was nothing particularly special about genomic data compared to any other sort. She went on to suggest the key issue is how genomics is framed in current discussions.
The need to reframe the discourse around genomics, moving away from a deterministic narrative to a probabilistic one, was a central theme of the debate. This was picked up by Dr Arney in particular, who was clearly passionate about dispelling the deterministic narrative. She gave numerous examples of cases where genomic information does not translate to the phenotype. For example, the 'superheroes' whose genetic information suggests they should have a disease, but who are actually well, and 'knockouts' who are missing certain pieces of genetic information, but still have traits thought to be associated with this information.
The debate ended with some convergence. Dr Lucassen noted 'We're not that far from each other really', much to the (mock) dismay of the chair. All agreed that there is no benefit to sequencing and interpreting the whole genome of the entire population, due to the cost and uncertainty involved in this. Similarly, all appreciated that there are some risks in collecting the data, such as privacy concerns, but those in favour did not see this as any riskier than other kinds of medical data.
The audience was polled again. There was a noticeable shift in the room towards the motion, although there was still a significant proportion against. I continued to vote against, but my reasons for doing so had changed. I was convinced that the privacy risks might not be as significant as I first thought, but voted against the motion on the grounds of cost and benefit. If WGS is to be carried out under the NHS, as argued for by Dr Lucassen, it needs to be demonstrated that this is a good use of NHS funds.
This was the position of Dr Arney, who pointed out there are a range of health interventions that we know have a positive effect, but are not offered on the NHS because they are too expensive. Given this, it does not seem appropriate to support funding for WGS unless it would yield a clear benefit. At present, Dr Green noted, no such cost-benefit analysis has taken place.
This debate is largely hypothetical at this point, as there are no serious considerations of population-wide WGS within the NHS now. Indeed, Vivienne Parry suggested such a thing is still 'light-years away', but emphasised the importance of having such conversations before it became a serious consideration, while there is still time to do so.