'Could your DNA data be used for Facebook ads?' Wellcome genetics panel asked
An astonishing panel of world-leading researchers and business leaders in personal genomes revealed the titanic issues facing the genomics sector at the Wellcome Genome Campus this month.
The public talk was titled ‘Sharing your personal genome: from genetic testing to ancestry’, the first in a new series organised by Wellcome Genome Campus Advanced Courses & Scientific Conferences.
On the panel were:
George Church, the Harvard geneticist who has co-developed genome engineering technologies since 1997, best known to the public when his enthusiasm for gene editing was used in a project he led to bring back the woolly mammoth by splicing DNA fragments into the Asian elephant genome. A Professor of Genetics at Harvard Medical School, he has also shared that it is only a matter of time before the human genome is edited to favour intelligence and health.
Yaniv Erlich, chief science officer of Israel-based online geneology platform MyHeritage and a professor of computer science and computational biology at Columbia University. As a white hat hacker and geneticist he mapped a 13million-person family tree. He has also identified a new genetic privacy loophole that allows inferring the surname of individuals from simple internet searches using genetic data.
Nicki Taverner, genetic counsellor at the All Wales Medical Genetics Service and University of Cardiff, sat in the middle. Her interest is in empowering the public to use personal genomic information to understand what personal genomes/genetic testing can and cannot reveal. She sees a great need for education and support to ensure that individuals are able to benefit from the interpretation of their personal genomes.
Joanne Hackett, chief commercial officer at Genomics England, the company set up by the Department of Health to deliver the 100,000 Genomes project. Participants are NHS patients with a rare disease, plus their families, and patients with cancer. She has been actively involved in clinical research for more than 15 years in Canada, America, Germany, Sweden and the UK.
Colin Smith, professor of biochemistry at the University of Brighton. He had his genome sequenced in 2013 and is a strong advocate for open sharing of personal genome information.
The session was chaired with considerable aplomb by Stephan Beck, professor of genomic medicine at UCL and director of the Personal Genome Project UK, an initiative that provides genomic and environmental data open access in order to advance personal and medical genomics and to promote citizen science.
Prof Beck mentioned in his introduction that “if you want to share your genome, it’s uncharted territory” before asking how many members of the audience had had their genome sequenced (a few) and how many were willing to have their genome sequenced (most).
As the panel introduced themselves, George said identifying disease early meant better outcomes, while Yaniv remarked: “This field is really exploding and has created the emergence of third party services.”
One of the key revelations was made by Nicki, who said her role is “to sound a note of caution”.
She noted: “It’s fantastic to share information but there has been a small number of companies where their results have been replicated through the NHS and the data has been found not to be accurate, so it’s fair to say ‘use a reputable company’.”
The claim that some commercial firms may be entering erroneous DNA data into the world’s collective DNA story would be picked up in the ensuing Q&A.
The first question was from a man in the audience who said he was half English, half Maltese. He asked if a DNA test would be able to describe “innate north African and Italian” characteristics. Yaniv said that although “it’s very easy to differentiate continents”, the DNA test is “a starting point but not the end of the story”. And of course the mix of ancestry in DNA readings has shocked people who thought of their ethnicity as fixed: it has also saddened families when children find out the man who they were told is their their dad is not their father.
The second question, from a female member of the audience, asked about open sharing: “Is that just the genome or is your identity shared?” Colin said “you can self-identify if you want, you can be anonymous if you want”. From his work with the NHS Colin said that the NHS database removes your name and NHS number. However, Yaniv added that even from the anonymised data, he could “recover your surname and therefore find you quite easily”. To not be identified at all will require “a higher fence”. There is no architecture for this higher fence in place just yet so it sounds as if anonymity cannot be fully guaranteed at this stage.
George agreed and added that you can lose your privacy either through “data escape” – your details being leaked or stolen – or through “data reidentification”, which could potentially happen when your DNA is made available in a public space.
“Privacy is a symptom not an end goal in itself, it’s a sign that people are being discriminated against,” he said mischievously.
The next questioner asked whether the relatives of someone who had open-sourced their DNA need to be consulted before usage.
“It’s helpful to take the family view,” said Nicki. Joanne added that for the 100,000 Genomes Project “100,000 people had to give their consent so obviously the parent gave consent to that child”.
A woman who said she’d gotten three DNA sequencing tests lined up – one for her, the other two for her brothers – told how her brothers refused the test, telling her that ‘normally you should have genetic counselling first’. She said she’d responded: “Well I’m going to have mine done anyway.”
It’s true that the actual sequencing of your DNA is the easier bit – it’s the interpretation of the data that’s crucial. On the issue of who best provides this interpretation service the answer is simple: the NHS is setting a global standard few match.
“Any genetic testing should be done via a clinically approved organisation only,” said Joanne.
So – I had to ask – is there an industry standard for genetic testing?
“My understanding is there isn’t an industry standard,” said Nicki.
“MyHeritage complies with all recognised standards such as GDPR,” said Yaniv.
But what’s to stop your DNA being shared with other market players, and you end up in a social media algorithm which targets you with medical products for depression or anxiety as a result of knowing what your DNA heralds?
“We sign a form to agree to not do certain things,” said Yaniv. “We know who does market on your preferences – Facebook. It’s recorded on your browsing history.”
Facebook, of course, also signed forms when it came to sharing their data. And what about the inaccurate data being generated by some commercial organisations as mentioned earlier? Shouldn’t those organisations be named so consumers can be satisfied that they’re getting a good service?
“I’m aware of only a small number of companies,” replied Nicki to this question, “and there are more inquiries being carried out, so it’s a question of wait and see.”
Worryingly, it sounds as if the names of those companies providing an inaccurate service are not going to be made public yet – though they surely should be.
“With most such organisations, like 23andMe, this is not even close to whole genome sequencing,” said George. “Whole genome sequencing is much better and the results are very rarely deviated from, and it’s not very expensive so it’s... very good.”
Yaniv disagreed about the cost. He said: “Whole genome sequencing is much better and it’s also more expensive, so if you want to democratise the service...”
“It’s at most $1,000,” interjected George.
The financial question unearthed in this exchange is crucial to what happens next. Yaniv is trying to fulfil demands for a cheaper service. But what George was saying is that when it comes to getting your DNA sequenced, you should opt for a quality service, which means sequencing the whole genome.
The final question was rather poignant, and came from an older gentleman who said he didn’t expect to be around much longer and had “virtually no family left” so what was the point of getting his genome sequenced? “Would it be valuable for you to have my genome?” he asked the panel.
“You have to give us as much information as you possibly can,” Joanne replied. “You may be a carrier for a rare disease, and others could benefit from that knowledge – or you might be a normal person in the mix, and normals are important.”
“We’re also looking for people that are very resilient,” added George. “You may be healthy but according to your risk factors you shouldn’t have made it to that age, so your resilience is almost immediately an actionable drug or a lifestyle factor.”
Joanne referred the audience to the 2016 report by the government’s chief medical officer Prof Dame Sally Davies, which looked at how genomics can improve health and prevent disease.
So what did we learn? We’re now on the journey of getting humanity’s genome sequenced. There’s no agreed gold standard for consumers. And there is a danger that there will be those who have access to whole genome sequencing – with all the benefits that accrue from understanding your likely medical history at the start of your life – and the DNA have-nots who can’t afford sequencing or cures.
But also, the NHS is the one organisation in the world that is actually democratising genomic testing and by doing so it is our best chance of having a ‘proper’ genetic counselling service. Without the NHS the sector would be in greater danger of more extensive commercialisation by big data.
For this journey to work, individuals have to want their genome sequenced voluntarily. Some may not want to know whether they’ll be more likely to die of heart disease, cancer or dementia. Others may think they want to know but then won’t be able to handle the consequences.
The industry needs to be completely transparent about its strategy and its business model.
We’re nearly there but not quite yet: there’s many a slip ’twixt cup and lip. But forewarned is forearmed.