Before his death from pancreatic cancer in 2011, Steve Jobs paid $100,000 to have his DNA sequenced. It was a rare and expensive move that, according to biographer Walter Isaacson, provided insight into potential treatments and allowed doctors to customize his drug regimen. Five years after Jobs’s death, that same kind of sequencing is widely available and costs just a few thousand dollars—or less.
The company most responsible for revolutionizing access to DNA isn’t a household name. Illumina is a $20 billion–plus genomics powerhouse whose supercomputers have sequenced some 90% of all the DNA data ever processed. Its machines have helped make genomics a compelling tool, used to treat diseases, predict drug responses, and identify which genetic mutations increase our risk of serious illness. They’ve also made it affordable for companies such as Ancestry.com and 23andMe to offer genealogy tests to millions of people. Now there’s a next wave of genomics on the rise, one that promises to take the science far beyond its initial uses. And the best way to understand the coming transformation is by looking at an Illumina spin-off called Helix.
Launched this fall with $100 million in funding, Helix is on a mission to democratize genomics. There are three levels of technology available today for decoding human DNA. At the top end is whole genome sequencing (what Steve Jobs had done), an exhaustive process that provides a massive volume of information, sometimes more than scientists know what to do with. Cheapest and most widely used is genotyping, which involves examining a predetermined set of sites in the genome from which one can infer ancestry, genetic relationships, and some disease risks. In the middle is exome sequencing, which usually costs less than $1,000 and provides a robust portrait of a person’s genetics by mapping the entire protein-coding region of the human genome.
The amount of information you can glean from genotyping versus exome sequencing “is like night and day,” says Eric Topol, a cardiologist and geneticist at San Diego’s Scripps Research Institute. Exome sequencing can identify genes and variants associated with complex diseases. It could also, according to Helix, be used to unlock insights into an individual’s lifestyle and personality traits. It’s this type of sequencing—faster and cheaper than ever (thanks, in part, to Illumina)—that Helix plans to exploit.
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