SAN FRANCISCO – A panel spanning regulator, payer, provider and academic interests celebrated the rapid proliferation of diagnostics based on emerging kinds of data that could enable more precise, earlier and better patient treatment. Starting with genomics, this data intensity has rapidly proliferated into all sorts of 'omics analyses, including proteomics, pharmacogenomics, metabolomics and microbiomics.

Much of this work remains at the research stage, but panelists from the FDA, the Mayo Clinic, the Blue Cross Blue Shield Association and San Diego-based Illumina Inc. spinout Grail Inc. mused on various issues facing this part of the diagnostics industry. These included how to help physicians easily and routinely integrate these sorts of testing; what industry's responsibility should be when it comes to patient control over their own diagnostic information; how to best verify new tests while enabling them to enter the market quickly; and how to best appeal to payers.

Ensuring their appeal to payers was top of mind for the research-stage diagnostics players on the panel, which included the high-profile Grail and the diversity and affordability focused Color Genomics Inc. Both companies said they are already working with payers – and also looking to, in some ways, circumvent them by simultaneously appealing to major employers to cover costs directly as an added employee benefit.

APPEALING TO PAYERS

"Reimbursement is a key issue for us. The kind of medical system we aspire to requires screening. We are in the early stages of developing our assays and are very committed to scientific, clinical and statistical rigor. We are designing this from the beginning with input from payers, to make sure we are demonstrating those economics," said the CEO of Grail Jeff Huber.

The Menlo Park, Calif.-based unicorn, which was announced a year ago at J.P. Morgan, recently said it was planning to raise $1 billion in a series B funding round; the company is focused on early cancer detection via liquid biopsy. (See Medical Device Daily, Jan. 9, 2017.)

Elad Gil, co-founder and chairman of Color Genomics, argued that the large cost discrepancy between the insurers and out-of-pocket patients can be a deterrent for payers – one that needs to be reduced.

Color Genomics is focused on alternative models of payment, Gil said. "The majority of people who are insured are through large enterprises or employers. We have been working directly with companies. Ultimately, they are helping to cover the costs directly or as a benefit."

"For national insurance plans," continued Gil, "this is a way to reduce their own costs and really focus on prevention. Only 10 percent to 15 percent of people know their BRCA status – no one should be dying who has BRCA cancer."

To help accommodate payers, the Mayo Clinic, which is the third largest medical lab in the U.S., has turned to precertification with insurers to ensure that insurers, physicians and patients are all on the same page.

"We are moving toward a precertification of many of our tests. Whole exome is more expensive, and we want to make sure they are getting the value. For precertification, we may need to talk to a genetic counselor to ensure that testing is really necessary," said John Black, the co-director of the Personalized Genomic Laboratory Mayo Clinic.

Coming from a background in psychiatry, he noted, "In psychiatry, we were precertifying in the 1980s, but here it's a new thing. It does add expense for us to provide people who can do precertification."

Black said that it's also routine for the laboratory to query any physician orders that may have obviously been in error, particularly given the steep learning curve for physicians.

"If we get a batch of tests from a particular client, a particular physician, we will call them. Did you really mean to order overlapping tests? We will ask – did you mean to order this? And, universally, the answer is no. The labs have a role in this – to talk to the clients," he said.

PHYSICIAN EASE OF USE

All of the panelists were enchanted by Illumina's announcement earlier this week that it's aiming for a $100 sequenced genome with the unveiling of a new sub-$1 million sequencer. (See Medical Device Daily, Jan. 10, 2017.) But they also were equally cautious about the cost and complexity of analyzing and annotating that data in a form that will be useful to physicians.

"The overwhelming number of health care providers did not go to school when genetic information was in the state it is in today. And there aren't enough genetic counselors and geneticists. We have to figure out really good ways to get the right information to providers, which requires integrated systems at the point of care," said Suzanne Belinson, the Executive Director of the Center for Clinical Effectiveness at the Blue Cross Blue Shield Association, which is not itself a payer.

She later added, "Information for information's sake has a history in medicine. And there are lots of times that has happened. We have to get our technologies that provide information in real-time to providers."

Mayo Clinic's Black suggested that the real cost of genomic information now lies in translating the massive quantity of raw genomic data into current, useful information for a physician that can be employed to better care for patients.

"Even if we have a $100 genome, interpreting it takes a lot of time and expense. A $100 genome is not a $100 genome to get the results out the door, it may be $5,000, depending on how complicated the genome is," he said.

He stressed that any routine preventive testing will need to see costs minimized for adoption, but noted that in diagnostically difficult cases where a genomics analysis is a last resort, payers and patients are more tolerant of costs, particularly if a treatable condition emerges as a result.

REGULATION AND PATIENT RIGHTS

Black and the FDA's Alberto Gutierrez, the Director of Office of the In Vitro Diagnostics and Radiological Health, went toe-to-toe over the regulation of laboratory developed tests (LDTs). Black is enthused about the eventual regulation being in limbo indefinitely, at least until there is a more regulatory-friendly federal leader. He argued that an FDA approval process for LDTs is unrealistic, with tests that can take five years to approve becoming obsolete in six to 12 months.

For his part, Gutierrez agreed it's impractical for the agency to go back and review existing LDT tests, but he said that the agency needs to play a large role in verifying these tests.

"I bet most of you have had LDTs, and you didn't even know it. Patients and physicians don't understand them. If you can go to the Mayo Clinic, great, they subscribe to an international standard. Mayo is crossing their T's and dotting their I's. But more patients have to have an independent review of their test," he said.

Panelists also disagreed on the extent to which researchers and companies owe an obligation to protect the interests of patients, who are part of their research. Black had a pragmatic view, arguing that once patients have signed a disclosure, the only obligation is to operate within those terms.

But Belinson argued that patients need to be actively protected and informed, particularly at each point when their information is commoditized.

"I think this is a consumer protection issue. We probably don't anticipate when we are having a test that this information can be sold and used to make money. We need to give patients an opportunity at each point of sale to opt-in or opt-out," she argued.