John Stuelpnagel – one of Illumina‘s cofounders – has never had his genome sequenced.
“I didn’t feel the need,” Stuelpnagel said.
It’s not because of the cost, nor the fear he’s got some genetic disorder. It’s not even because he believes it’s an unnecessary move for a healthy man:
“It’s just that sequencing isn’t good enough today for many of the applications we’re looking at for future clinical use,” he said.
Stuelpnagel, who now chairs Ariosa Diagnostics, 10X Genomics and the just-acquired Sequenta, spoke this week on a panel at the J.P. Morgan Healthcare Investment Conference. The execs addressed an industry perspective on how to harness the power of next-generation sequencing – where the landmines are, and what the outlook appears to be.
The market for next-gen sequencing extends to “everyone on the planet,” InVitae CEO Randy Scott said (just hours after filing an S-1 for an $86 million IPO): Everyone’s health care could be improved through a deeper understanding of their own genome.
But there’s still too much of a lag in terms of clinical actionability, Scott said. The materials and methods are here; the decoding bit just has to catch up. Some genes are easy to sequence, but those associated with disease tend to have very sophisticated mutations. To move forward, it comes down to plumbing the correlation between genotype and phenotype in a high-def kind of way.
A Deep-dive Into Specialty Pharma
A specialty drug is a class of prescription medications used to treat complex, chronic or rare medical conditions. Although this classification was originally intended to define the treatment of rare, also termed “orphan” diseases, affecting fewer than 200,000 people in the US, more recently, specialty drugs have emerged as the cornerstone of treatment for chronic and complex diseases such as cancer, autoimmune conditions, diabetes, hepatitis C, and HIV/AIDS.
“The sequence part is the tool, the commodity – but it’s everything else you’ll do with it that’s the secret sauce,” Regeneron chief scientific officer George Yancopoulos said.
To get actionable info that’s useful in developing a therapeutic, it’s important to have a tight sample size, Stuelpnagel said. It’s hard, after all, to make sense of all the noise – the reams of extra data you’ll get with a powerful tool like next-gen sequencing.
“It’s becoming abundantly easy to sequence everybody across every thing,” he said. “Scarcity is difficult.”
Yancopoulos chimed in: “The limitation isn’t how many people you sequence – you’ve got to sequence the right people.”
Market potential
This emphasis on studying the right patient pools is particularly important when one considers how quickly next-gen sequencing is developing – and how legions of individual genomes will soon be on the research dockets.
Right now, we’re in that era of the thousand dollar genome – less, really – but it still costs a half million dollars to get clinical-grade sequencing done to get a good genetic handle on a patient’s disease, Scott said.
“But when prices plummet to a dollar a gene, it’ll also drop in the consumer market – opening up the whole wide world of genomic testing,” he said. Payors interested in harnessing next-gen sequencing are, of course, concerned that consumers could “bypass some of the gatekeepers” as they begin really adopting this personalization of medicine.
But how will the consumer market grow? Here’s the kicker, when it comes to commercializing the forthcoming, powerful new sequencing-based drugs and diagnostics: The technology’s moving a quicker clip than U.S. regulators can keep up. The net effect of these FDA lag times?
“The best genomics will be done overseas because you can go to market instantly,” Scott said.
