The new guidelines on ‘direct-to-consumer’ genetic testing are welcome news

DIY gene tests claim to tell you your disease risk

The much-hyped ‘era of genomics’ is underway. You can now spit into a pot, pop it in the post, wait a week or two and – at the click of a mouse – find out about the genes you carry. Supposedly this information tells you about your chances of one day developing diseases like cancer, Alzheimer’s, heart disease and more.

But even though many of the companies that sell these ‘direct-to-consumer’ gene kits go to great lengths to make the results as user-friendly as possible, the sheer wealth of data – and its implications – can be extremely confusing for many.

Indeed, there are questions over what these results actually mean. The science underpinning them is still developing, and the precise ‘risks’ linked to different diseases can change as more research emerges.

On top of this, data used to interpret these tests often comes from large research studies carried out in Europe or the US, so their results often don’t apply to people from different countries, or of different ethnicities.

And does letting people to find out about their genes actually give them any useful information about how to make decisions about their lives? The advice over how to reduce your risk of cancer is – after all – the same for almost everyone.

At Cancer Research UK, we’re keen to learn more about the potential of such tests in the future. But we think that the science they’re based on still needs to mature, and their results need interpreting with caution. And we certainly wouldn’t  recommend them to people worried about their cancer risk.

That’s why we believe that the Government is right to introduce guidelines on how these tests can be marketed to the public, and what tests are allowed to be performed.

The new ‘framework document’, published today by the Human Genetics Commission (HGC), aims to “ensure that the public have confidence in genetic testing kits”, and will “require companies to follow basic principles of consent, data protection, truth in marketing, scientific rigour and balanced interpretation”.

According to the Department of Health press release, the principles of the framework state that:

• Tests for serious hereditary diseases – like Huntington’s and [some forms of] breast cancer – should only be provided with the offer of counselling both before and after testing.
• Companies must make clear what the possible outcomes of taking a test are and what patients can do about it.
• Simple, easy to understand information on how genetic testing works should be provided.
• Claims made about tests should be supported by evidence, which is published in scientific journals.

This final point is key, and underlines our belief that research is needed to determine exactly how these tests can help people live their lives.

Of course, not all regulation is a good thing, and we need to ensure that research in this field is not unduly affected.

Nevertheless this is a rapidly developing field that, we believe, poses more questions to society than it answers. The announcement today is a welcome first step in clearing up some of these uncertainties, and ensuring that the public are provided with the best possible information about their – and their children’s – health.

And as we’ve said before, if you’re worried about your risk of cancer – for example because you have a family history of the disease – then your GP should be your first port of call. There’s also an excellent section on genes and inherited cancer risk on our CancerHelp UK website.

Henry