Would you donate your genome?

We’ve heard about donating blood, tissue, tumours, organs, or even your whole deceased body for medical research - but would you donate your genome? Colin Smith, Professor of functional genomics at the University of Brighton has done just that. He had his genome sequenced and donated it through a process called Open Consent to the Personal Genome Project UK, meaning that all his genetic data is out there on the internet for anyone to see. This is the kind of thing that most people might feel a little bit nervous about, so when Kat Arney met him at the British Science Festival in Brighton earlier this month, she had a few questions.

Kat - So when you talk about having your genome sequenced, is this the kind of analysis that something like 23 and Me would do, where it’s looking at little snapshots or is this reading all the letters of your genome?

Colin - This is reading all the letters. So, the human genome is about 6.4 billion base pairs. 23 and Me would look at about 800,000 nucleotides so there's a huge difference here.

Kat - This is like the whole recipe book of you.

Colin - Yeah, it’s the Full Monty!

Kat - And what made you decide to put it out there to make it public? Can I go and browse through your genes?

Colin - Yeah. Anybody can browse through my genes. You can download my complete genome. In fact, through my website, you can click on the genome report which lists all of the notable features of my genome and my health risks, and potential health benefits.

Kat - Is it anonymous or would I be able to know that it’s you?

Colin - No. It’s not anonymous. I've self-identified as one of the Personal Genome Project ambassadors.

Kat - So, I've been interviewing people for quite a few years about having personal genome sequenced, about this kind of data and pretty much, everyone I talked to says, “This is private, personal data. This is very particular to you. We should really think about privacy.” And you have just put it all out there on the internet. What was your thought process behind deciding to do that?

Colin - Ultimately, if millions of people do this it’s going to be a game changer because in addition to the data being made available, our health records are going to be made available as well – our personal traits, health issues that we may have encountered.

So, if it’s publicly available, it means not only can scientists look at it, but citizen science can have a good go at it as well. But I'm sure that in the not too distant future, citizen science is going to play a big role in discovery because if the data is freely available and not behind a pay wall or not kept anonymous, there's going to be a lot more benefit to society.

Kat - I'm not sure I like the idea of someone rifling through my DNA and go, “Oh, look! Did you know…” or “Oh, look! She has a risk of Alzheimer’s” or “She’s got a risk of heart disease.” I'm not entirely comfortable with that. How would you respond to that sort of, “Oh, I'm a bit worried about this.”?

Colin - Clearly, it’s not for everybody. For me, I just don’t have a problem with waiving anonymity to this. But there's another issue which is important. The notion that you can keep genomic data anonymous is really probably not true even though people are told that their genomic data would be anonymous.

People have taken data from research papers, have identified individuals and sent a list of the individuals to – for example, the editor of science. And they were absolutely correct in naming all of these individuals who had been told that their genomic data would be anonymous. So, I really don’t think you can keep it anonymous and research groups and consortia who are telling people it’s going to be anonymous are doing the volunteers a great disservice.

Kat - Arguably, if you look at social media and the kind of things that people are prepared to share on the internet, I've had friends who’ve had the 23 and Me sequences done and shared them on the internet and people share all sorts of information about their health. Is this just an extension of that sort of sharing vibe for some people?

Colin - Yes. I think it could be. I mean, they're also self-interest as well. For example, by joining up as part of the personal genome project, you get feedback. You interact with the researchers. You can provide more samples. For example, my epigenome is being done which can show you how much you’ve been exposed to cigarette smoke or environmental damage, whether your biological ageing corresponds to your chronological age. So there's self-interest as well.

And also, with citizen science, somebody from Bangladesh or wherever, could email me and say, “By the way, I've noticed this correlation between these variants and this condition.” So it’s also self-interest as well.

Kat - And have you had a good old rifle through your genome? Is there anything you're prepared to say that you found in there that maybe you found surprising or you didn’t expect to find?

Colin - Yes! It’s been very useful exercise for me. I have some mutations in an enzyme which breaks down these drugs called thiopurine drugs which are used as immunosuppressants or anti-cancer drugs. So, my enzymes don’t work. So if I'm given these drugs, they will accumulate in my body and potentially be fatal, causing organ failure, so that’s good to know.

Kat - And in terms of the science. I've often talked about, if we’re going to solve the problems of how do our genes work, how do our genes make us who we are and influence our risk of disease, we just need more data. If people do think, “Okay, this is a good thing to get involved in. More data is better data, is better for science.” How can people get their genomes read at this level of detail and then share them?

Colin - Well, they can enrol with Personal Genome Project UK and then they would be put in a waiting list because this is proving extremely popular. However, I didn’t have my genome sequenced by the Personal Genome Project. I had my genome sequenced privately 4 years ago and I heard about Personal Genome Project and then contacted them asking whether I could donate my genome.

So you can have your genome done by a company and you can have it done at material cost if you're going to donate it to Personal Genome Project UK. And it’s about £800. When you consider the first genome, took 15 years to sequence and cost about $3 billion, 800 quid…

Kat - Bargain!

Colin - Bargain - it’s incredible. But you can't just have your genome done and donate it. You have to donate under open consent. You have to provide informed open consent. So you have to pass an exam to show that you understand the risks, you understand genetics, and you understand what risk means. And anyone that you understand also the potential risks of going public as well.

Kat - I have rolled this kind of really deep connection with your genome, finding it out, putting it online, making it available to share. For you, it’s been a positive experience.

Colin - It’s been a very positive experience because everyone is so enthusiastic about it. About sharing information and it’s two-way as well. I'm now interacting with the Personal Genome Project team who are based at UCL in London and they update you because of course, interpretation of genomes changes continuously because new information comes to light every week.

And your genome on its own doesn’t really mean much. It’s only when you compare it with other genomes. So once there's another million genomes out there, there’ll be far richer information available on your own genome about what your predispositions may be.

I have acted on some of the findings from my genome and had some screening for peace of mind of some of the increased risk of certain conditions and I was negative. It’s great to have done that because I don’t have to worry about it anymore.

Kat - That’s Colin Smith from the University of Brighton. And if you’d like to join the fairly sizeable queue to have your genome sequenced by the Personal Genome Project and release it to the public, you can find out more at https://www.personalgenomes.org.uk/ And there are also projects in the US, Canada and Austria too.