NEW YORK (GenomeWeb) – Guardant Health today announced the Guardant360 assay has been approved by New York State’s Clinical Laboratory Evaluation Program.
The assay is the first liquid biopsy permitted by the program, which Guardant said is one of the most demanding lab certification programs in the country, and the approval means Guardant360 can be offered in all 50 states.
The blood-based 73-gene test investigates actionable somatic alteration across all solid tumor sites to provide clinicians information to better manage their patients’ disease, according to Guardant. Last week, Medicare contractor Palmetto GBA released a draft local coverage determination for the test, proposing limited coverage for it in patients with advanced non-small cell lung cancer.
The test was launched in 2014 and has been ordered more than 40,000 times by more than 3,500 oncologists since, Guardant said.
May 12, 2017 | In August 2015 when Deep Genomics first launched, co-founder Brendan Frey made a prediction. “There’s a sea change coming,” he told Bio-IT World. “People are going to be focusing now on the machine learning component and trying to understand what the genome means, not just sequence a bunch of genomes.” It’s been nearly two years, and he’s been proven right as more and more efforts arise to apply deep learning, machine learning, and artificial intelligence to medicine.
But maybe Frey isn’t wholly prescient. Earlier this month Deep Genomics announced a shift in company focus. Genetic testing was the Deep Genomics business plan in August of 2015; today the company is working to develop genetic medicines.
The company’s technology and foundation haven’t changed. Frey’s vision is to use computer science to accurately model what’s going on in cells and how disease arises from mutations. “Closing the genotype-phenotype gap means understanding how mutations impact what’s going on in cells and how that impacts diseases, whether that’s cancer or Alzheimer’s Disease,” Frey told Bio-IT World earlier this week. Detecting mutations is the first step; figuring out what to do about the mutations is the second part.
But genetic testing as an industry is bound in regulatory constraints. “What we found is that the genetic testing community is very conservative and a lot of issues need to be sorted out. They’re political issues; they’re insurance issues; they’re FDA issues. Sorting that out is not something that we want to focus on in the short term. As the community moves forward and those issues get resolved, then we’ll re-engage with the genetic testing community. But right now we’re focused on genetic medicine,” Frey said.
Deep Genomics intends to understand disease starting with its genetics, and then rationally develop drugs to target the genetic underpinnings of disease. Frey believes the regulatory landscape for that type of genetic medicine is much more fertile, citing the 21st Century Cures Act.
“If you look at pharmaceuticals and therapeutics… everybody realizes that this $2.8b per drug [cost] to produce a drug doesn’t work and an 85% failure rate is just not acceptable. Many people are suffering because of this. So the regulatory constraints are dropping; it’s becoming easier and easier to develop drugs.”
Into The Wet Lab
You might expect that Deep Genomics would simply offer its deep learning platform to companies and groups as software-as-a-service or platform-as-a-service. Frey laughs when I ask him about it; he understands the assumption. But from the beginning, Deep Genomics has employed both computer scientists and cell biologists. The Deep Genomics platform has already identified genetic medicine candidates and the company is pursuing options for central nervous system, eye, and liver disorders, validating them now in tissue culture.
Deep Genomics has lab space at JLABS @ Toronto, a 40,000-square-foot life sciences incubator sponsored by Johnson & Johnson Innovation that just celebrated its first year. Frey is also making good use of the science-on-demand capabilities now available. “Nowadays, over the internet you can order compounds… companies will synthesize the compounds and do the chemistry for you. Companies like Transcriptic enable cloud labs, that allow you to do experiments by uploading basically a computer script.”
The company has previously been funded by angel investors and had revenue from clients and partners. But now Frey is securing additional funding for a Series A round to “massively scale up” the company’s experimental unit. He hopes to announce his own compounds in the next 18 months.
In addition, Deep Genomics is seeking pharma partners. “The path for us is to focus on the early-stage development right now, and collaborate with other pharmaceutical companies and help them get their products out as fast as they can, reduce risk for other pharmaceutical companies,” he said.
Deep Genomics’ vision, Frey stressed, hasn’t changed. “The core idea of Deep Genomics is that the pharmaceutical company of the future is going to look like a computer science company with an amazing team of biologists and chemists and experts in clinical trials rather than a traditional pharmaceutical company with biologists and chemists who are using computational tools. It’s a question of culture; it’ll be a culture of computer science.”
The platform has matured over the past two years. The company has diversified the types of molecular phenotypes it looks at, considering transcription initiation, polyadenylation, and mRNA stability, in addition to splicing errors, and has added protein-related molecular phenotypes.
For the past few months, Frey said, the company has been focusing on how to introduce genetic modifications or therapies to fix various mutations.
“Say there’s a mutation that causes a problem with splicing or a transcriptionally-related problem,” he proposes. “Now what kind of a genetic modification or genetic medication would be needed to fix that problem?”
Most at-home lab testing devices like Scanadu and Cor are still waiting for FDA approval, but simple lab testing can still be done in the confines of your own home and then shipped to a lab and that’s led to a handful of new startups offering services like STD or food allergy tests.
Everlywell, an Austin-based at-home lab testing startup (and a Disrupt Battlefield company), aims to make the testing it offers affordable and easily accessible to the masses. The company debuted two years ago and has grown quite a bit in a short amount of time. Founder Julia Cheek tells me Everlywell is now generating millions in sales and ships to 46 states in the U.S. The company recently announced it had pulled in another $2 million in seed funding, bringing the total to $5 million to help it grow its service offerings.
Everlywell so far offers eight different tests including food sensitivity, thyroid and metabolism testing or fertility testing to get a clear picture of how you are doing in those areas.
MyLabBox is another startup offering a detailed list of STD tests available for use in the home and at your convenience. The costs might seem high if not covered by insurance (and most at-home lab testing doesn’t seem to be) but you could still see about FSA/HSA reimbursements.
Though the debate wages on for how to cover America, these types of startups present a new range of abilities for the healthcare industry and could help lower the cost and ease of access for service workers and others who don’t work regular hours or don’t typically have insurance coverage.
The process is pretty simple for each startup — you order online and a kit arrives in the mail. Each test is different but some require a sample of blood or saliva. Just follow the instructions and then pop it back in the mail for analysis by a third-party lab.
The idea for these types of startups might be similar to something the embattled blood testing company Theranos once hoped to accomplish. Theranos held a lot of promise when it first launched, claiming it could test for hundreds of diseases on one drop of blood. However, you had to go into a Walgreen’s partner lab if you wanted to get results.
These newer lab startups offer the ability to test in privacy and instead use certified third-party facilities for accurate measurements. They may also be the preferred method for those who just want to see their results before determining whether they need to see a doctor as sitting face-to-face with someone who might tell them they have an STD can be a very real fear.
Both startups stand by the accuracy of their results and I’ve personally tried a food sensitivity test from Everlywell that I can say helped me determine certain foods that were causing stomach issues — including green peas, which is one I never would have thought of otherwise.
It’s not exactly full access to healthcare (that’s another debate I could get into but not today), but this new crop of health startups do offer a regulated option for those who can scrape up the money without paying insurance premiums to find out what might be going on inside their body — and with an easy and convenient solution to some of the fear they might have about going to the doctor’s office to get results.