Will the Apple Watch Series 10 or 12 offer handy real-time DNA sequencing? It’s not beyond the realm of possibility, thanks to a series of scientific breakthroughs. And it could revolutionize personalized medicine, especially for super-malignant cancers.
Sequencing a genome used to be science fiction.
That changed when the Human Genome project kicked off in October of 1990. But it wasn’t until 13 long years had passed that the project actually completed in April of 2003. Today, sequencing a genome takes between two to four days: a massive improvement, but still not just something you check like the time on your smartwatch.
Now scientists at IMEC, an international innovation hub, have open-sourced software to bring that down to between 10 minutes and a few hours.
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“The latest version … can now do a 50X coverage whole genome — that’s one that’s quite often used — we can now do that in under 10 minutes for roughly speaking $1,” Dr. Roel Wuyts told me in a recent TechFirst podcast.
That’s up to 16 times faster than current best-of-breed solutions.
Part of the challenge is that sequencing a genome is a two-part process. There’s the actual physical data-gathering aspect, and there’s the analysis of the resulting data. While today’s DNA-testing machines that a major hospital might have can run through perhaps 9,000 genomes in a year, analyzing the data so doctors and scientists can work with it would take 18 months.
Wuyts and his team at KU Leuven, a research university in Belgium that works with IMEC, have built elPrep5, a software platform for DNA analysis. The goal: getting the software to catch up to the hardware.
Listen to the interview behind this story on TechFirst:
“Finally, we can run the entire DNA analysis pipeline with a single software platform solution, and faster than ever,” another IMEC researcher, Dr. Charlotte Herzeel, says. “For the medical sector, this allows massive efficiency gains because the time between sampling and diagnosis dramatically decreases and doctors can run analyses overnight.”
elPrep5 is that software platform, and IMEC is releasing it as open source for anyone to use. They picked the AGPL license, which means that the code is freely available, but you have to contribute improvements and extensions back to the project. But it’s also available via a commercial license so companies that want to use it and not contribute back code can instead contribute cash, essentially, to help improve the overall quality.
The new process isn’t just a time saver and a major cost saver.
It’s also, potentially, a life saver.
DNA-tailored medication just for you has the potential to be a complete game-changer in health, because you’re getting medication that is customized to exactly how your body works. But there’s a problem.
“If you want to go to tailored medicine, then you need to have quite a large dataset,” Wuyts says. “By making … genome sequencing practical and cost-effective, this pool of available data will become bigger. Since if my DNA is sequenced and I’m 1-in-10, there’s only 10 other people then you can compare it with … but if we can do that for millions of people, then the chance that I resemble somebody for which we have more information is much bigger.”
In other words, you’re unique but not that unique, and the more data doctors have on how people with very similar genetic make-up to you respond to a certain medication, the better they can treat you.
But there are potentially even bigger wins waiting to be unlocked by fast, cheap, and widespread genome sequencing.
Some cancers, for instance, evolve very rapidly, Wuyts says. That means it’s hard to keep track of them and hard to tailor proper medication to them. But a simple way to take a daily genome test would allow doctors to adjust treatment as required. Doing so, Wuyts, said, could turn a deadly disease into a chronic one with potential for recovery.
And that will eventually be possible in a wearable device.
“I have colleagues that worked on microfluidics, and that means that you could enter a saliva sample or a blood sample directly on such a device,” Wuyts says. “We also have chips sensors that could do the sequencing itself on the device. And we then have all the knowledge and the analysis — that’s what we are reached now with elPrep. But we could scale that down and put that same compute in such a small device by leveraging some of the work that IMEC is doing on a very small tiny computer.”
Bundling all the building blocks, Wuyts and colleagues have brainstormed that within four or five years time, a DNA-sequencing wearable would actually be possible.
“That’s still challenging, but still a lot of the basic blocks are actually there,” he says. “Then you would have a wearable where we think you enter directly a small amount of blood and within 4 hours we could have your fully sequenced DNA and some analysis.”
Now you could potentially share the genomes of hundreds of millions or even billions of people for scientific research. That raises a huge number of privacy concerns — which Wuyts and team are working through as well — but it also offers up huge opportunities for medical knowledge.
Add AI to the mix, with good data about diseases, treatments, and progressions, and the field of medicine starts to look very different in, relatively speaking, a very short time frame.