In a couple of short weeks, Gabe is headed off to TCGC in San Francisco where he will be giving part of a short course. He was super excited about it last year and is even more so this year. I sat down with him yesterday to find out why.
Jessica: What’s TCGC?
Gabe: Last year I got to attend The Clinical Genome Conference – a newly-created conference by Cambridge Healthtech Institute. It was less than 100 people – very close-knit. And everyone was sort of feeling their way around. This year, it will be much much larger due to the popularity of the topic.
Jessica: What’s the subject matter like?
Gabe: When creating the content for 2013, the organizers realized they were trying to pack too much into a short amount of time with the different parts of translating NGS to the clinic. So they created two sections. The first is on advancements in science, bioinformatics, and interpretation. The second section on Thursday and Friday is about the business of running NGS labs and translating and providing NGS services in a clinical context. It will be exciting to see both sides get their own weight because there’s obviously no NGS market for the clinic if people are unable to figure out how to sustainably provide it.
Jessica: Who will be speaking?
Gabe: TCGC has a pretty killer cast of speakers this year. The keynotes are exactly the people who you would hope to hear their opinion on in terms of the translation of NGS to the clinical market. Most of them are people who are pushing the boundaries, who have success stories and words of caution to tell. And there’s also the futurists who are building companies around this idea of putting clinical genomics in the market.
InVitae, for example, has their CEO keynoting right off the bat. He’s had a long run of successful companies in the genomic space, and he is betting there’s an opportunity to build a business around providing gene tests based on NGS technology that are at the level of clinically validated reports and not just research.
Jessica: Tell me about the buzz.
Gabe: Every year will be a completely different story. Last year, the story was really focused around who’s taking the risk to run clinical samples for the first time. These are often people in translational research hospitals who have both a research and a clinical platform to be able to go out on a limb.
Without the promise (or even liklihood) of being reimbursed by insurance companies, they are taking their cases that have had no successful diagnosis with traditional tests, getting exomes or genomes run, and seeing what they get. The excitement last year was really around success stories for those translational research hospitals that were able to do this.
But I think even more buzz was around everyone talking about what they were planning on doing. And we are going to see how that played out this year.
You had commercial vendors talking about how their sequencing was going to be cheaper, better, faster. And you had the full service solutions – like GenomeQuest who, if you send them an exome sample and $3,300, they will analyze it and provide back a clinical report. Which is pretty bleeding edge because no one else even attempts this or thinks they can do it economically.
Jessica: What about researchers who are more academic, not currently in the clinic?
Gabe: From the perspective of people who are in the research field, they are pushing the bounds of what’s actionable information beyond the existing literature. Obviously, there can only be a gray line between research and clinical practice when you are discovering a completely new disease. There’s not going to be an existing test that you can send someone to get, if what they have is indeed one of these rare diseases (which there are thousands of) that exist in only one out of a million people.
Jessica: What makes you really excited for TCGC?
Gabe: So obviously, NGS is a huge success when it comes to basic research. But it’s honestly, really, too soon to say how big of an impact it will be in the clinic. It could still be five years out before you would turn to an exome with the expectation of getting results as clear cut as what people get for cytogenetics today.
Attending TCGC allows you to see where we are in the progression toward using genomes in the clinic – its promise and vision.
And so what was also really exciting about last year and what I look forward to this year is seeing the progress researchers are making in breaking down our genome and the search for rare, causal variants that are clinically relevant through new bioinformatics methods, new sequencing techniques, and probably most importantly, just an advancement in our collective understanding of whole system biology, the cause and effect relationship between mutations and genes, and how they all interact to play a role in the phenotypic expression of highly penetrant and even complex traits.
Of course, I’m also really excited to be part of the short course “Getting Personal About Genomics” on Monday night and have it be a stellar success. I hope you can join us!