Genetic predictions about our health are more accurate than ever – but serious implications are being ignored

Scarcely a week goes by without some new medical advance that relies on the study of the human genome.

The latest – courtesy of Stanford and Cambridge universities – offers a new way of classifying breast cancer, according to the genetic mutations of the tumours, which makes it possible to predict which cancers will recur.

As with most medical research, there is still a long way to go, but the buzzword is “personalisation”.

Sooner or later, your treatment could be tailored to your particular genetic makeup, affording better prospects of success, and in a limited way, it is already happening.

But how do people respond to research that essentially carries the message that your destiny lies in your genome, where your medical future is laid bare?

It was in the quest for a preliminary answer to this question that I found myself, with around 100 others, in a trendy studio space near Birmingham’s transformed New Street Station.

We had gathered to hear a handful of brave people talk about their experience of having their genomes mapped and their dealings with the medics – nurses, GPs and consultants – they encountered along the way.

One of a series of public meetings organised by a charity, the Progress Educational Trust, along with Health Education England’s Genomics Education Programme, this event was called “talking genomics with patients”.

And the underlying question was this: with the science of genomics galloping along, how equal are medics to the task of explaining, and perhaps breaking bad news to patients? The tentative finding was, as you might expect, very mixed. Some practitioners could not be faulted; a lot could. Insensitivity, delays and lack of feedback were among other concerns.

What struck me most, however, was the extent to which – for the time being, at least – hope overrides trepidation.

The speakers had all volunteered for the just-concluded “100,000 Genome Project”, having their whole genome mapped in an attempt to identify a possible cause for their, or their child’s, medical condition: generally a rare disease, or cancer.

One found out that she was suffering from a rare, but variable, progressive condition. But, as she said, with the symptoms already apparent and this condition running in her family, the results came by way of confirmation rather than the devastating blow it might have been to someone without that background.

Two others were parents hoping to find a reason for their children’s so-far unexplained disabilities. Alas, the genome mapping had supplied no answers, yet the parents were content with their efforts and admirably determined to keep looking. All of which is a tribute to human optimism and excellent news for science.

I have to admit, though, to some surprise about the general absence of misgivings, and it was left to someone in the audience – a woman worried that her older child’s affliction could have a genetic link, but was not at all sure that she wanted to know. After all, if there was a genetic link, but the state of research was such that nothing could be done, then, she said, “you are in a sort of limbo”, which was “quite irresponsible, in a way”.

That is rather my view, too. Which is why I was taken aback a couple of months ago when the health secretary, Matt Hancock, announced a gene-sequencing project that he “sold” as helping speed the development of new treatments.

The idea is that healthy people could pay around £200 to have their genome sequenced by an affiliate of the NHS in return, first, for a report predicting their risk of developing, say, cancer or Alzheimer’s, and, second, allowing their data – in anonymous form – to be used for medical research.

At present, genome mapping is available free to those with rare conditions, but anyone else must pay to have it done privately.

How does that bargain seem to you? To me it sounds venal and irresponsible in equal measure. I really wonder whether the health secretary – an evangelist for bolting high-tech gizmos on to a low-tech, low-efficiency NHS – quite realised the implications. Mercifully, it appears that the project is still at an embryonic stage.

First, there’s the payment aspect. I have fewer qualms than many about the NHS buying in private services. When my local health authority outsourced its bone-density scanning to a private company, the service was superior in every respect to what I received a few years later when it had been brought “in-house”. European health services buy in services – including ambulances in France, routinely.

But if you have some people able and willing to pay the NHS a not inconsiderable sum to have their genes sequenced, you could quickly have a two-tier health service.

What if your report turns up something negative? Does your £200 fast-track you to NHS diagnosis and treatment? What if your report mentions a heightened risk of a condition, Alzheimer’s say, for which there is no cure? What can be done about that?

When my late husband was diagnosed with Parkinson’s, he was convinced there was a genetic element – something that was then generally denied. Thirty years on, genetics looms large in Parkinson’s research, and two, maybe three, gene mutations have been identified as playing a role in some strains of Parkinson’s.

One day, maybe, it will be possible to correct, or eliminate, the mutations. In the meantime, however, how many ostensibly healthy people would want to know that their future included a progressive disease for which there was as yet no cure?

Might some then not think that this awareness imposed an obligation – not to have children, say, or to discourage existing children from having children? Where are all the counsellors for those who might face such a dilemma?

At least in the UK we are spared the biggest risk facing those in the US whose genome sequencing shows adverse results.

As president at the dawn of genome mapping, Bill Clinton insisted that health insurance companies could neither demand nor use such information. But the temptation will always be there, and even in the UK we are not completely exempt.

Most sorts of insurance, including travel insurance, insist on full health disclosure and weight the premiums – drastically for some conditions – accordingly. Personally, I have no problems with the NHS using my anonymised data (with or without my genome map).

But in the NHS world of regularly mislaid paper records and computer shambles, how confidential is confidential?

So I salute those who talked about their part in the 100,000 Genome Project and those who will take part in its planned successor. And their faith that science will in time explain what has gone wrong with their, or their children’s health, is admirable.

Before those with some spare cash decide to check out their genome (and help NHS research), however, a lot more thought needs to be given to the two-tier health service that could result, and the support that will be needed for all those whose find that disability and or mortality may lurk rather closer than they had thought.