You could pay to find out about your cancer risk – but you might not get what you bargained for

At the moment, direct-to-consumer cancer tests aren't ready for widespread public use.

New developments in genetic research and medical scanning are promising to usher us into a world of personalised health care. Several businesses now offer ‘direct-to-consumer’ gene tests, implying that they can tell healthy people about their risks of developing common diseases, including cancer.  Others advertise ‘health MOTs’ – a full body scan claiming to find early signs of such diseases.

These tests might sound tempting, but ‘personalised’ commercial cancer tests are new territory – and they raise tricky questions about consumer choice, personal responsibility towards healthcare and what role, if any, the Government should be playing in regulating it all.

The Nuffield Council on Bioethics recently launched their new report on ‘personalised medicine’. We went along to the launch event to find out what the experts think of this supposed healthcare revolution. But their basic message was a cautious one, as we shall see…

Direct-to-consumer genetic tests

It’s now possible to order a genetic test online – you spit into a test-tube and post it off to a company that analyses your genes. We’ve talked about these tests on this blog before, and our position – that they’re not ready yet – hasn’t changed since then.

The tests look for certain variations that have been shown to have a small impact on cancer risk.  On their own, each variation only has a relatively modest effect on cancer risk.  At the moment, it’s not clear exactly how they all add up, or interact with the influence of our lifestyle choices – the combination of ‘nature’ and ‘nurture’.

As an aside, it’s important to point out that these subtle differences are not the same as the major ‘cancer genes’ such as APC, BRCA1 or BRCA2 – inheriting faults in one of these genes can significantly increase a person’s chances of developing specific types of cancer.

‘Direct-to-consumer’ genetic tests should not be confused with genetic tests offered to you by your doctor. The NHS offers genetic testing for certain genes which have a clear, marked effect on cancer risk – such as APC, or BRCA1 and 2. They also come with counselling and advice, to help people understand the tests and the implications of the results. If you’re worried about your cancer risk – for example because of a strong family history of the disease – you should speak to your GP.

Although the blurb on the company websites may sound enticing, the research behind these tests is not yet at a stage where they can give a reliable prediction about a person’s cancer risk. We simply don’t have a complete picture of all the genes involved, nor do we understand how the research – often carried out in people from a few locations in the world – applies to people from different backgrounds and ethnicities.  In short, if you’re worried about your risk, these tests aren’t much practical use.

We think that if people want to find out about their genes, they should be able to make their own choices about taking these tests – as long as they can afford the rather hefty price tags these companies charge – but in full knowledge of exactly what it is they are getting for their money. So we’re keen for these companies to provide accurate, easy-to-understand information.

And many do – in fact, most companies selling these tests clearly state that ‘no medical decisions should be made on the basis of these tests.’ But as so often with small print, it’s likely that this rather stark message often gets lost in translation.

The Nuffield report working group looked at evidence from Professor Martin Richards from the University of Cambridge, who is publishing a paper describing his experiences of purchasing a genetic profiling test from two different companies. Not only were there substantial differences in his reported risk between the different companies, he also suggested it was unlikely that anyone who bought such tests would then approach the results as a ‘series of bits of information about their genome with no relevance at all for their health’.  In fact, it’s likely that people will overestimate the meaning and certainty of the results.

‘Good’ results may lead to complacency in lifestyle choices around the things we know definitely are responsible for causing many cancers – such as smoking, drinking excessive alcohol and not keeping a healthy body weight. It’s worth remembering that most cancers are not caused by the inherited genes these tests look for, but by damage we acquire to our genes throughout our lives. In fact, up to half of all cancers could be prevented by changes to our lifestyles that could reduce the chances of this damage occurring.

And learning about perceived risks could also be upsetting – but we’ll come back to that later.

On the up side, it’s possible that ‘bad’ results might encourage people to lead healthier lives  – or alternatively, opt for a fatalistic approach – but early research in this area suggests that personalised information about your genetic risk of diseases has little or no effect on people’s actions to reduce their risk.

Direct-to-consumer body scanning

A full body CT or MRI scan to look for early signs of diseases such as cancer sounds like a great way to make sure you’re in the clear, or flag the need for further investigation or treatment. But, as Professor Rose pointed out at the Nuffield report launch – there are a number of downsides.

For a start, CT scans expose people to radiation, which is potentially harmful. Such scans should therefore be done with the recommendation of a medical expert, and only when it is in the patient’s best interest. Professor Rose even spoke of some companies which advise an annual CT scan, without any reference to the potential harms.

The results of scans can be difficult to interpret, requiring expertise and experience. So it would be wise to have a clear understanding of who is interpreting your results and their qualifications.

Also, people aren’t perfect. The inside of every person’s body is a complicated and unique place, with all sorts of naturally-occurring oddities. These scans will often pick up ‘abnormalities’ which are actually harmless, but which could lead to unnecessary anxiety and further invasive tests.

Medical scans are a very important tool for diagnosing different illnesses, including cancer – but only when used appropriately. In fact in their report, the Nuffield Council have concluded that direct-to-consumer whole body imaging should not be given to healthy people – on the basis that, overall, it does more harm than good.

They also suggest that companies that sell body imaging services as a ‘health check’ should be regulated to ensure they are meeting standards of quality and safety.

Freedom of choice

These tests could lead to new expectations and choices for the individuals who use them. On the positive side, they could perhaps give a person a sense of knowledge or control over their health. But as Professor Hood, Chair of the working party who produced the report told us at the launch, “There is a danger in stressing personal responsibility when information is ambiguous and imperfect.”

Many of these developments are leading to viewing healthcare as a consumer product or choice – but Professor Hood pointed out: “Choice needs to come with good information and advice.”

The Nuffield report also highlights the potential for misuse of personal health information and the importance of safeguarding private information. Many of the report’s conclusions suggest that the companies involved, as well as the Government should provide clear information about the risks and benefits of these tests. This includes the potential consequences with regard to how the results may affect people’s life and  health insurance, employment or mortgages.

Balance, fairness and social solidarity

The most likely outcome from people receiving worrying or confusing results from tests they’ve bought is that they head to their GP – indeed recent research suggests that, for about 80 per cent of people, their doctor would be their first port of call after taking a personal genetic test. But given the scientific uncertainty behind these tests, it is difficult to see what benefit this would add, over the current general advice that GPs can offer about risk, genes and lifestyle.

People with real evidence of a raised risk of cancer –  for example, a suspicious growth discovered through a body scan –  should, of course, receive appropriate healthcare. But scenarios where people are essentially paying an entrance fee to qualify for further tests raises interesting new questions.

We should take advantage of new discoveries, but it’s important that public resources should be used fairly and efficiently. As Professor Hood put it: “Individual choice has to be balanced with fairness and social solidarity.”

So what next?

There are many worries about potential risks of direct-to-consumer tests and scans, but as of yet there is little evidence of actual harm. These developments raise new questions for us as a society and we need to keep a close eye on what happens in the world of commercialised, personalised healthcare.

But it’s also important to remember that these technologies are still developing, and that the research behind these tests holds substantial future promise. Many scientists around the world – including several funded by Cancer Research UK are investigating the complex links between genetic makeup and cancer risk. And we are investing in research into screening and imaging technology.

We’re not saying that these technologies and tests aren’t promising, just that it’s too early to sell them directly to consumers. At the moment, they simply raise more questions than they answer – at least as far as cancer risk is concerned.

We, and others, continue to invest in these avenues of research, aiming to advance our understanding so that one day tests like these –  based on robust scientific evidence –  can be used effectively to prevent, diagnose and treat cancer.

Laura Bell, Cancer Research UK Science Information Officer