Letting the gene genie out of the bottle

By European Alliance for Personalised Medicine (EAPM) Executive Director Denis Horgan

Last week, in the US, a Google-backed company was finally given permission by the Food and Drug Administration (FDA) to market an inexpensive genomic test to the public that identifies a predisposition to a rare disease using a simple kit that analyses saliva.

After some fractious exchanges between the company, called 23andMe, and the FDA - going back to the initial marketing launch in August 2013 and culminating in the latter sending a warning letter last November - agreement has been tracked. At least for one test - that for Bloom syndrome.

In its letter the FDA ordered 23andMe to “immediately discontinue marketing the PGS [Saliva Collection Kit and Personal Genome Service] until such time as it receives FDA marketing authorization for the device”.

The same letter expressed concerns that 23andMe did not prove that it had “analytically or clinically validated the (test) for its intended uses.” The FDA was also worried about how consumers might use the information.

23andMe's initial campaign used the phrase “Change what you can, manage what you can't.” And while the FDA u-turn is a long way from 23andMe's attempted service to identify genetic markers associated with more than 250 specific diseases, it still represents a breakthrough moment.

Indeed, while the FDA has yet to formulate specific rules for direct-to-consumer (DTC) genetic testing, Anne Wojcicki, chief executive of 23andMe, has been widely quoted as saying that: the approval is a first step for her company and the government.

She added: “It shows the FDA is willing and supportive of crafting the direct-to-consumer path…It’s a very reasonable first step. I would go so far as saying it’s a very generous first step.”

The European Alliance for Personalised Medicine (EAPM) very much welcomes this news as a shift towards the kind of patient empowerment that is currently lacking in many areas of healthcare. As a preventative step towards keeping the EU’s ageing population of 500 million as healthy as possible, it cannot be underestimated. In fact, it fits perfectly with the baseline objective of personalised medicine - to deliver the right treatment to the right patient at the right time.

But there are considerable issues here. Quire aside from the fact that many prospective patients may not wish to know their genetic predisposition to various diseases – a report may make fascinating reading but is hardly likely to be cheerful – there are fears that such knowledge may lead to pressure from patients and their families for ‘over-treatment’ in an already stretched healthcare environment.

However EAPM; while accepting that there is a need for caution, is more in favour of patient empowerment than it is of unnecessary, albeit well-meaning, paternalism on the part of EU lawmakers or, indeed, healthcare professionals. The Alliance believes that patients have a right to a choice, and they have a right to access to their own medical data, too – data that can inform that choice.

Yes, there are privacy concerns – companies such as 23andMe will effectively be personal data collectors – and these concerns are particularly pertinent with regards to personalised medicine.

EAPM believes it is vital that our doctors have access to the best information and diagnostic techniques available. Today’s emerging technologies, such as analytics tools for ‘Big Data’, can help healthcare professionals improve diagnoses and reshape the way medicine is practiced.

As has just occurred in the United States, our legislators, while respecting patient privacy and within agreed legal frameworks, must be pragmatic, flexible and strive not to hinder cutting-edge studies.

Science is moving swiftly. New technologies emerge not due to legislative tracts but in some cases despite them. The regulatory landscape is, of course, difficult to navigate, but it is time for the law to position itself to keep up with science.

Any other way will ultimately have an impact upon quality of life and, in many cases, cost a life itself.

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