As Precision Medicine Initiative Evolves, Labs Play Just a Small Role—for Now

The Obama administration has redoubled its effort to encourage the use of precision medicine, although the role of laboratories in the initiative has mostly been limited to small-bore ambitions for now.

On Dec. 18., legislation authorizing more than $200 million to fund the initiative was signed into law. On Feb. 25, the one-year anniversary of the precision medicine initiative announced by President Barack Obama, the White House announced a slew of specific new projects involving regulatory agencies, research hospitals and universities, and a sprinkling of commercial laboratories. Of that latter group, many are relatively new to the field and limited in what they may be able offer.

The most well-known laboratory involved in the initiatives was Cambridge, Mass.-based Foundation Medicine. It announced its intention to release its genomic dataset of pediatric cancers for researchers. The Obama administration said it would be the largest dataset in this area to be made publicly available.

“There are few things in life as devastating as when a child is diagnosed with cancer. It’s critically important to the achievement of our corporate mission that the robust genomics information we have amassed is freely and easily accessible to researchers and utilized as an important tool to address the significant unmet medical need in pediatric cancers,” said Foundation Medicine Chief Executive Officer Michael Pellini, M.D., in a statement.

Illumina, the San Diego-based company that primarily manufactures and distributes sequencing platforms, is involved in an initiative with the University of Chicago, Argonne National Laboratory, the Minority Coalition for Precision Medicine and The BioCollective to research the environments in which children are raised in conjunction with their microbiomes and whether it plays a role in their susceptibility to post-traumatic stress disorder.

One of the more intriguing projects that was announced involved Pairnomix, a Minnesota-based laboratory. It would be working with Harvard Medical School, the University of Utah, Boston Children’s Hospital and Recursion Pharmaceuticals to create a system wherein patients with serious illnesses would be more rapidly matched with potential drug therapies through the use of tailored testing. Under this initiative, known as the Patient-Empowered Precision Medicine Alliance, Pairnomix would construct models of individual genetic mutations and perform “highly personalized” drug screenings.

Pairnomix’s participation in the initiative would appear to be a huge boost for the fledgling company, which was founded only last year. However, Pairnomix officials declined to provide any specifics regarding its role to Laboratory Industry Report.

Color Genomics, another nascent laboratory, was involved in a third initiative, although it was relatively limited in scope. The Bay Area-based lab promised to double the number of free BRCA tests it offers through its Every Woman program, as well as double the number of cancer centers through which those tests are offered. Currently, Color offers the free testing in conjunction with cancer providers at the University of California San Francisco, the University of Pennsylvania, the University of Washington and the Morehouse College School of Medicine.

“Through these efforts, we hope to help remove barriers to precision medicine for people of all backgrounds,” Color said in a statement. A company spokesperson did not respond to a query seeking further comment.

That labs have limited participating in the personalized medicine initiative at the moment may actually be following a logical path, according to Juergen Klenk, a principal with Deloitte Consulting, LLP, who is focused specifically on its precision medicine efforts.

“Where do you first light the fire to get this going?” Klenk said. “The challenge is to find and validate good biomarkers that will help provide good diagnostic insight. And that by and large depends on having more data available.”

Indeed, many of the projects that were announced last month were focused on making data more available and easily shared by both providers and patients. The Washington, D.C.-based Advisory Board Company, for example, will create a standard application programming interface (API) for up to five pilot health care organizations that will allow them to communicate more efficiently with vendors and patients.

Allscripts, athenahealth, Cerner, drchrono, Epic and McKesson are also collaborating to create APIs that would allow individuals to contribute their data for research initiatives.

Acute care providers such as Hackensack University Medical Center, Carolinas Healthcare System, Intermountain Healthcare, Ochsner Health System, St. Joseph Health, the University of California health system, and Yale New Haven Health all announced they would make it easier for patients to access their data, as well as share it with researchers.

The White House also announced that the Office of the National Coordinator for Health IT and the National Institute of Standards and Technology would develop security frameworks for handling precision medicine data. And the U.S. Department of Health and Human Services Office for Civil Rights issued additional guidance on individuals’ rights to access their health information under the Health Insurance Portability and Accountability Act (HIPAA). Specifically, the new HIPAA guidelines address the rights of individual patients to have copies of their health data sent to anyone they designate, including contributions for research.

The creation of such frameworks to regulate the sharing of genomic and related health care data is only the first step in creating regulatory guidelines that will allow laboratories to more widely participate in the precision medicine initiative, according to Dan Housman, chief technology officer of ConvergeHEALTH, a Deloitte affiliate.

“We don’t yet have mature systems in place for handling the funding and approval of companion diagnostics that bring down the cost of medications for findings from genomics,” he said. He believes those issues likely won’t even be addressed until key regulations are in place to control personalized patient care—as well as guidelines for how providers should act on test results and inform patients—including findings that may or may not be incidental to treatment.

In the meantime, Housman believes that many labs are still ramping up their abilities to process large amounts of genomic data—another requirement that would be key to their participation in the precision medicine initiative on a larger scale.

Housman has worked with the Department of Veterans Affairs and the Department of Defense on the Million Veterans Project, an initiative to create a large research cohort for precision medicine. He noted that one of the biggest challenges has been finding enough labs with the capacity to process the data that would be gathered.

“Labs are still good for (crunching data) on traditional lab tests. But because genomic tests have a very specific profile, it will require data analytics on very high scale,” he said.

However, Housman said that labs should be able to meet the challenge. He observed that there is a “deep bench” of startups that should be able to crunch genomic data on a large scale in the near-term. And both LabCorp and Quest Diagnostics have been working on their initiatives in precision medicine, he added.

“I can only imagine that they will be major players in high-volume sequencing, either through acquisitions or organic growth,” he said.

Takeaway: The Obama Administration is continuing to press its initiative regarding precision medicine. However, the role that commercial laboratories are playing at the moment is small, although that will likely change as the initiative moves forward.