The addition of the word “Genomics” to the American College of Genetics tagline is the clearest indicator of the activity we’ve seen in the diagnostic industry over the past year. If you’re not already employing or planning to employ next-generation sequencing in your clinical genetics lab, you stand to become irrelevant.
The meeting was absolutely dominated by NGS. From Madhuri Hegde’s short course on NGS (which ran for seven hours) to Wayne Grody’s strong endorsement of genome-wide analysis, to the ACMG’s new policy statement on genomics, there is no question that the age of the diagnostic genome is upon us, and that the FACMGs are leading the way.
My takeaways from the meeting:
- Gene panels are the story of the year. Every lab is launching one. A smaller percentage is announcing exome sequencing tests this year. Only one (Harvard Partners LMM) has announced a whole genome diagnostic screen this year, although it is not yet launched.
- There was a palpable sense of panic by those lab directors who hadn’t yet made their investment in their NGS machine.
- And a similar panic by those who had the sequencing capability but not the interpretation. (Of course GenomeQuest was happy to help and made lots of new friends!)
- I’m surprised that even as ACMG is widely embracing genomic diagnostics and medicine, that they had a very poor representation of cancer genomics. Cancer is a disease of the genome. Is ACMG resigning cancer to AMP so soon?
- The ION Torrent seems to be making in-roads over the MiSeq. Sentiment varies as to why, but the 318 chip is getting favorable reviews and people like the price. Lack of strong paired-end support doesn’t seem to get in medical geneticist’s way. Maybe it’s the big bus that LIFE drives into the exhibit hall.
- Just as the ION is catching on, so is its producer, LIFE Technologies, building cancer panels to compete with its very customers – the labs that are buying ION machines. Seems they may not have learned from Illumina’s mistakes.
- I continually marvel at the degree to which academic and scientific leaders can collaborate at these meetings while simultaneously running labs that compete directly with one another. Never have I seen such well-behaved co-opetition.
- There are a growing number of initiatives to create clinical-grade interpretation databases, propagating an ever-increasing confusion around the line between commercial, government, and academic intellectual property. This more than anything is a shame – clinical knowledge of the genome should be a public resource.
- I heard widespread resentment about the NCBI’s Genetic Testing Registry as a replacement for GeneTests.
- Genomes are moving rapidly into the EMR.
- Reimbursement is not so big an issue as one might expect. Labs are either stacking CPT codes for panels, or quoting and charging a flat institutional price (and passing along the reimbursement problem to the ordering institution). Some labs are launching tests without knowing how and whether they’ll get reimbursed; they’re being granted permission to launch these new diagnostics at their hospital’s own expense so that they stay relevant. Everyone is looking forward to the new codes which will reimburse larger numbers of amplicons, but it’s not slowing down test launch right now.
- Where are the payors? Still waking up to this revolution, I think. If I were a payor, I’d be bolting on genome diagnostic capabilities wherever possible. Not only are they faster, cheaper ways to getting to the same result as expensive Sanger tests, they generate a more comprehensive body of data that can be used to determine which treatments correspond to which genotypes to create low-cost strong outcomes.
And the beat goes on. Real patients are benefiting from larger genetic screens, faster turn around times, and cheaper costs thanks to NGS. And the databases of phenotype / genotype relationships are growing. Congrats to the ACMG for carrying the torch.