First “DIY” Human Genome Offers a New Approach to Conventional Genomics
Direct-to-consumer genetic testing is a fast-growing sector in genomics, populated by companies like 23andMe, and Color Genomics, offering their customers a chance to get to grips with a portion of their genetic sequence. For many people, this is as close as they will get to seeing even a fragment of their own genome. If you want to sequence your genome for yourself, you will need access to highly expensive sequencing machinery, reagents and laboratory kit, the latest data analysis software, not to mention some expertise in molecular biology.
Or maybe not. For a little while now Clive Brown has been quietly working on a project to turn the existing third-party sequencing model on its head. Clive has sequenced his own genome, by providing his own sample of blood, running the sequencing reactions himself, compiling the final sequence, and publicly releasing the data, under copyright, on a widely-used open source data platform.
Read our full interview with Clive Brown here, covering more of the implications of self-sequencing, and the experience of exploring his own genome.
Clive’s is not the first named individual genome out there – Craig Venter and James Watson already have sequences floating about the public domain – but the ‘CliveOme’ is the first sequence that could be described as completely “DIY”.
“So far as I am aware this is the first full coverage Human Genome sequenced by the individual who provided the input sample,” he explains.
Clive happens to be the Chief Technology Officer of Oxford Nanopore, a British biotech company best known for putting the first sequencer in space. Which means that he isn’t lacking in either molecular biology expertise or access to technology. But, Clive explains, Oxford’s super-portable MinION sequencer has the potential to truly be the public gateway to the genome.
“Part of our goal at Oxford Nanopore is to break this [third-party] cycle by providing genomic tools that can be run by one person, anywhere to analyse anything,” he told FLG.
“We have also tried to do this without the upfront capital requirements, focusing on what you might call a ‘pay as you go’ model. For some of our devices this means people who would otherwise miss out on funding, or who would be beholden to a central service, can now do it all for themselves, even outside of the laboratory.”
MinION has already made an impression outside the laboratory, with applications ranging including tracking wildlife crime, diagnosing Ebola infections in Central Africa, and following the evolution of Zika virus across Brazil. Making sequencing technology more accessible also has enormous potential to break down the big problems with racial bias in genomics. But the potential trajectory for this decentralisation has much larger implications beyond research and healthcare explains Clive. “The trajectory of the technology is to make it usable by anybody. Yes even non-scientists. Yes, there really is interest.”
Clive admits to being “inspired” by 23andMe, who “were able to get over a million curious people to spit into a tube and pay a subscription to try to understand what is going on in their own DNA.” If you could put a drop of spit into a cheaper version of Oxford’s technology, Clive says, in theory anyone could sequence their genome at home. “I once, on a platform, spoke about using a modified DNA sequencing toothbrush to do this,” he chuckles. “It would email you by the time you got to work with a report. I wasn’t joking! It is technologically feasible to do that given some effort.”
Why might, for the sake of argument, a humble FLG science writer, be interested in taking the DIY approach to their genome? Far from just simple curiosity, Clive believes that self sequencing could become a powerful health monitoring tool, tracking changes over time and generating a baseline for health. “We could then look for meaningful perturbations from those baselines, both within individuals and also between groups (if they share their data) and also across geographical domains,” he explains.
“We already have patient advocacy/activist groups wanting to map and monitor their status via their own blood borne DNA profiles, then take that to the clinicians.”
Having control over personal medical data has long been one of the big asks of the patient advocacy community, a critical step on the road to becoming full partners in the research that could influence their treatment outcomes. Looking to the future, Clive believes that self-sequencing the genome has a critical role to play in that process.
“There’s huge potential in people choosing to open their personal DNA wallets up to academic researchers, under reasonable rights,” he says. “This will catalyse many advances, and my bet is some of those people will want to participate in that research. The public understanding of DNA can be improved, and many of the fears and taboos that have been created can be substantially defused. That is in everybody’s interests.”
You can read our full interview with Clive Brown here, covering more of the implications of self-sequencing, and the experience of exploring his own genome.