The potential benefits and dangers of the NHS’ work with genome data demand a well educated, informed, and engaged public debate about policy, says Edward Hockings

The introduction of genomics and AI enabled healthcare into the NHS marks the beginning of what could be a new era of personalised and preventative healthcare, catalysing a transformation of public health through early diagnosis and disease prevention. But the reality is that no one can be sure about the clinical benefits of genomics. Despite committing £500 million, which will soon rise to £1.1 billion, the government acknowledges that the “evidence for its clinical utility will continue to evolve.” The question then is: what explains such expenditure at a time of austerity? 

Dedicated to understanding the function, mapping, and editing of genomes; genomics is a young, but unquestionably cutting edge science. And the UK is at the forefront of its development. The recently introduced Genomics Medicine Service makes the UK the first country to offer genome testing as part of national healthcare. Its initial goal: transformation of the diagnosis and treatment of cancer and rare diseases. The Genomics Medicine Service is a byproduct of the recently completed 100,000 Genome Project—an effort to sequence the genomes of NHS cancer and rare disease patients—which has spawned the recently announced 5 million Genome Project. As part of the 5 million Genome Project, healthy NHS users will be given the option of having their genome analysed for their level of risk to developing certain conditions—in turn, their genomic data will be shared with researchers and industry.

Linking genomic data to health information, such as medical records, could help us to identify variations that could illuminate the causes of disease and the level of risk a person has of developing it. If clinicians have access to such information, it may give them increased precision in choosing which treatments work best for their patients, since the effectiveness of treatments often varies based on genetic factors. In theory, national genome projects are fantastic: participants have their genome sequenced in the hope of some personal benefit and for the advancement of science.

But there is always more to the story.

The 5 million Genome Project marks, in the government’s own words, the “acceleration of industrial usage“. Private sector interest in the 100,000 Genome Project has already been far-reaching. The Department of Health has held meetings with Google, which has an “interest in the data that Genomics England is collecting”. Google and Genomics England have also met to discuss “using Google’s artificial Intelligence firm DeepMind, among other subjects” to analyse genomic data. In light of the government’s plans to “maximise the commercial value of the data”, private sector activity in this area is set to intensify.

Whilst commercialisation can drive innovation, it can be a double-edged sword. A vivid illustration of this is the distortion of the evidence on which medicine is based by the pharmaceutical industry, regarding which Ben Goldacre commented “the whole edifice of medicine is broken.” Although it is imperative that the public plays a central part in deciding how genomic information is used and with whom it is shared, once the government gets too involved with the private sector, the public might struggle to stay involved in decision-making. 

The crucial issue, I believe, is that we can expect genome sequencing on a national scale to go beyond its original aims. Genes are not everything. Employers and educational institutions may nonetheless see genetic information as having a predictive value, and require “polygenic scores.” A new kind of genome analysis which measures disease susceptibility and genetic variants linked to complex human traits, such as intelligence. Life insurers have, in most cases, already made the disclosure of any previous genetic tests obligatory. Like everything, a brave new world of national genome sequencing and genetic scoring will be good and bad—and it will have profound implications.

If the public is going to be given a voice in such developments, then countries with a history of democracy must lead the way. We are campaigning for the UK government to pledge just 1% of their spending for bioscience R&D and infrastructure on “public engagement—which means education too”—and urge the life sciences industry to match that spending. This should include national, awareness raising campaigns. Workshops which bring the debate to life in schools, colleges, and universities—facilitated online—along with television campaigns and programmes featuring some of the brilliant minds that work both within the field and outside of it, would help to get the public up to speed on the science and ethics of genomics and gene editing. We have to rise to the challenge of getting bioscience policy right. 

Edward Hockings is the director of EthicsAndGenetics, an independent, non-profit organisation

Competing interests: None further declared