Julian Sheather: Will the confluence of big data and the genomics revolution lead to a transformation in personalized healthcare?

julian_sheatherWill the confluence of big data and the genomics revolution lead to a transformation in personalized healthcare, or are the emperors’ clothes looking a little threadbare? This was the theme of the Astellas Innovation Debate for 2015, held in the Royal Institution’s lovely raking lecture theatre in Albermarle Street. George Freeman, Minister for Life Sciences, gave an upbeat, we’re clearly in the run-up-to the election, opener. This was visionary stuff. The i-Gene revolution had bought us to the threshold of a great leap forward. Precision healthcare, personalized to our individual genomes, will strip old health of its inefficiencies, side-effects, and randomness. Healthcare costs will plummet. Outcomes will go through the roof. The NHS will become the first publicly funded health system to offer genomics as routine treatment. Smartphones will become medical sensors, providing real time data about our health status, transforming self-care and bringing relief to an overstretched health system. Freeman summoned the ghosts of the great dead: Bevan, he told us, would have championed the i-Gene revolution. Nor does the good news end there. Access to all that rich data locked away in NHS databases—duly anonymized—will unleash the life science industries, giving fresh impetus to the UK’s economic recovery. The future is bright, the future is i-genetic.

At that point the minister, as ministers do, had to fly, and our chair Jonathan Dimbleby turned to the panel. Leroy Hood, one of the drivers behind the human genome programme and a pioneer in high-throughput gene sequencing continued in cheerleading mode. He led us from disease to wellness. By sequencing an individual’s genome, long before illness manifests itself, wellness can be enhanced, deficits balanced, future problems anticipated and tackled. And then the first signs of unease began to emerge. Professor Stahel is a cancer physician. Molecular level data have been driving oncology for over a decade he said, and although it has helped focus treatment, genetic oncology has yet to develop a single cure. Genetic data, it was made clear, are only part of the story of our health and our illness. It is the interplay of genetics with our environment that is decisive. Genetic data may now be relatively cheap to acquire, but interpreting them, and developing the ensuing therapeutic interventions, will not be. And where genomes are sequenced commercially, sophisticated expertise is needed to interpret the data. What then would be the equity costs of i-Genetics? Would it lead to the greatest of all health divides, between those who can manipulate their genes and those left at the mercy of their genetic nature? And given the number of lives that could be saved globally by improving access to clean water, malaria nets, and basic medication, should we be spending our health billions here in the first place?

And what of the data themselves? I-genetics involves the procuring and storing of vast amounts of personal health data, some of it extremely sensitive. How confident should we be of its security? George Freeman had bent himself in two assuaging our doubt on this front, but there were signs of dissent. Databases are infamously porous, and the NHS has not been a stranger to spillage. With the right algorithm, we were told, anonymity could be unlocked. Helena Kennedy QC raised the privacy rights of future adults. Non-invasive fetal genome sequencing can provide parents with huge amounts of information about their children, much of it unnecessary to the welfare of the child. Surely the future privacy rights of the adults they will become should be respected? Don’t we all have an interest in an open future?

Information about our health is not always a good thing. There can be downsides to data. Little in medicine, genomic medicine included, is certain. In most cases, the best we can hope for is probability. And with something as complex as genetics, probability will be compounded by probability. There is a risk that genetic data will fill us with unease as the chances, however slight, of a dark cornucopia of future ailments are laid out for us.

As I listened to the ebb and flow of the debate, to claim and counter-claim, I found myself falling into step with what I took to be Professor Stahel’s pragmatism. Here was a huge amount of hope and hype and a huge amount of data. The technology is dazzling but the therapeutics has yet to catch up. So let us exercise a little caution. And most important of all, let us not forget, in the welter of genomic data, the ordinary human stories, and the ordinary human needs, of our patients. That is still the bedrock of medicine.

Julian Sheather is ethics manager, BMA. The views he expresses in his blog posts are entirely his own. This blog also appears on one of the BMA’s communities.