The NHS should run a mile from the genome sequencing goldrush
Genomics England’s plans to move into paid-for genome sequencing of healthy people has done more than raise eyebrows in the scientific world. Last week a parade of the genomics great and good – who had clearly not been informed of the plans announced last week by Matt Hancock, the health secretary – wrote to the Times saying this would “create two-tier access to services, where people who can pay are able to access services that are denied to those who cannot”.
Others have pointed out that the plans will create extra pressure on GPs, who will have to deal with a flood of “worried well” patients coming to them with DNA test results.
The idea is that new “genomics volunteers” will pay for the sequencing and for its interpretation, while agreeing to donate the results in anonymous form to the Genomics England databank. The fact that the volunteers are being asked to pay for test results, delivered by a healthcare provider rather than a private genetic-testing company, must give them the impression that there are personal health benefits to be gained.
And that is the flaw: as Prof Anneke Lucassen, the chairwoman of the British Society for Genetic Medicine, pointed out, the predictive value of genomic sequence results for healthy people is extremely dubious. Thus far, Genomics England’s 100,000 Genomes project sensibly focused on people who could genuinely benefit from the data, such as those with undiagnosed rare genetic diseases and those with certain tumours where knowledge of precisely which genetic mutations are present can guide treatment.
So what, the genomics experts are asking, does the Department of Health think it’s playing at now? To answer this question, we need to look at the history of genomics.
The story begins in 2000 with the announcement of the completion of the sequence of the human genome. This achievement ushered in a wave of hype in the 2000s about how every baby would have its genome sequenced at birth that it would carry around on a data card to be given to healthcare providers, and how this would create a new era of “personalised medicine”.
Meanwhile, private companies rushed into the genome sequencing market, led by 23andMe, with its backing from Google. As time has gone on, and the promised medical breakthroughs have largely failed to materialise, the dream that genome data will give good predictions of personal risk for common and complex medical conditions has faded. The scientific literature is full of unreplicated studies, and different companies often give conflicting predictions from the same data.The truth is that genetics is simply not much use in the mainstream of medicine.
The direct-to-consumer testing companies have marketed genome
sequencing as fun and exciting personal discovery.But behind that facade, the business plan of some genome companies was always similar to Facebook et al – to amass vast troves of genomic data, which could be sold to the pharmaceutical industry. This is the game that Matt Hancock now wants the NHS to join. Despite the dubious health benefits of genome sequence information, neoliberal governments have never seen fit to regulate this industry – caveat emptor. Now the NHS is being turned into another snake-oil salesman.
There are numerous risks in this ambitious new programme. Firstly, those who have their genome sequenced will be presented with a mass of confusing information, and it’s unlikely that they would get the proper genetic counselling to help them understand it. To do that would require vast amounts of training and the delivery of millions of hours of counselling – the cost of which would wipe out the cash-generating benefits of the programme to the NHS. Thus, genome sequencing results are most likely to generate anxiety and confusion.
Then there are the privacy and genetic discrimination risks. As a number of studies have shown, it is very possible to de-anonymise such information, which could potentially be used to discriminate against – and even allow hackers to blackmail people. More generally, in a society of ever increasing surveillance, the state may build up databases of citizens’ personal genetic information as a form of social control.
Finally, such programmes of preconception genetic screening can be powerful drivers of eugenics. One type of information that will definitely come out of genome data will concern recessive genes for genetic diseases. We are all carriers of several such mutations, which do not harm us, but if combined with the same mutation in our partner, they create a risk that our child will be affected by a genetic disease. People who know their genome sequence could ask their partner to also undergo genome sequencing to ensure that they are not “genetically incompatible” before marriage or having children. With millions of people having their genome sequenced, this could quickly develop into a socially required – or even legally enforced – standard of behaviour. The 1997 sci-fi film Gattaca explores this idea.
Given all these concerns, the new programme seems highly damaging to the reputation and mission of the NHS, and very socially undesirable. It is hard to see any benefit in it other than to the Treasury.Wouldn’t it be better if the Department of Health invested its resources in public health measures that would have a far greater effect on the nation’s health?
•Dr David King is a former molecular biologist and director of Human Genetics Alert