'DNA genie left bottle with ancestry testing', says Wellcome ethics researcher

Dozens of companies around the world now offer direct-to-consumer genetic testing. Buy a kit and send them some of your saliva and they will, for a modest fee, sequence your genome and provide a report on any genetically-influenced health risks you or your family face.

But while the genomic medicine revolution can empower patients, there are concerns over a lack of regulation around such tests, the thoroughness of the reports and the absence of follow-up advice or counselling.

Dr Anna Middleton, head of society and ethics research at Wellcome Genome Campus, warns that some patients may already have ended up seeking unnecessary operations to head off non-existent diseases and disorders. She tells the Cambridge Independent: “If a commercial DNA testing company raises concerns in a report, it’s up to them to pick up the pieces and give you proper counselling, and they’re not doing that.

“There’s been quite a few reports of women with a third-party genetic test report demanding to have breasts or ovaries removed and it’s not been an accurate test – they don’t need to take that course of action. Eventually there will be legislation.

“The European Society of Human Genetics, for example, insists that testing companies have to have genetic counsellors and most don’t – it’s generally a report on the DNA and a YouTube video, so for instance if you have a high likelihood of developing Alzheimer’s it’ll say ‘you need to eat better and exercise more’.”

While regulation in the UK has been slow, in the US it is a different story. Since 2015, DNA tests ordered in the US include a revised health component, which comes with FDA approval.

“The FDA regulates delivery of testing in America,” adds Dr Middleton, “but we haven’t been able to do that in the UK.”

The regulation of direct-to-consumer tests has tended to be led by Europe rather than the UK. The European Society of Human Genetics (EHSG), based in Vienna, Austria, supports the Council of Europe’s protocol on genetic testing. The protocol specifies the conditions under which tests can be carried out in a variety of circumstances and addresses any potential ethical concerns over testing.

“At a time when genetics and genomics are advancing so rapidly, issues surrounding genetic testing take on an even greater importance than before,” says ESHG president Professor Gunnar Houge. “New technologies and discoveries provide huge potential for the improvement of human health, but alongside that can go the potential for misuse. The ESHG therefore welcomes the Council of Europe protocol and believes that it will be an important factor in ensuring that genetic progress continues to be applied in the most ethical way possible to the benefit of all concerned.”

There are concerns that bolting on regulations to already-existing tests could be too late for some customers.

A recent report in the New York Times described a woman whose breast cancer threat was not picked up by the commercially-produced 23andMe test. The test - as the firm makes clear - only looked for a limited number of mutations. The report concluded that the vendor “was not doing anything actively deceptive”. Buyers are urged to read and understand the small print.

“We are very clear with customers that our BRCA1/BRCA2 selected variants report only tests for three out of thousands of possible genetic variants,” said a spokesperson for 23andMe, which has 10 million customers. “Not only is this indicated in the naming of the report, but it’s also written in bold at the top of the report, as well as multiple other places throughout.”

The sharing of family data began with the launch of ancestry websites at the start of the century.

“The genie is out of the bottle already,” says Dr Middleton of current genomics tests, “and that’s because of ancestry testing, where they are very free and easy with your data. It’s been used to track down serial killers because the FBI has access to the data. Data security worries me more and more – the government structures in place are pretty ineffective.”

However, the issue of genomic screening for members of the public is being discussed. A major public dialogue project by Ipsos MORI, launched on April 25, illustrates how genomic medicine will change the relationship between the NHS and the people who use it.

The report was launched at an event at the Science Gallery London hosted by the government’s chief medical officer Dame Sally Davies. It concluded that more work is needed to raise the public’s awareness and understanding of genomics, stating: “Realising the potential of genomics will require a critical mass of UK citizens supporting it to the extent they are willing to participate – while this is a longer-term aim, creating and implementing a genomics narrative should be an immediate priority – the dialogue participants were clear that policy makers and the NHS have a responsibility to do more to educate people about genomics.”

The Wellcome Sanger Institute has participated in the production of a range of short films illustrating the consequences of taking a genetic test.

“These films are for sharing with the family and getting the conversation started,” concludes Dr Middleton.

The gold standard for genomics testing remains the NHS, who always have a genetic counselling session or sessions to explain the report to patients.