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In Partnership with UCSF, Quest to Expand its Integrated Diagnostics Vision

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Through a partnership with the University of California, San Francisco, Quest Diagnostics is planning to launch testing services that bring together multiple technologies and different types of patient data to personalize and bridge gaps in care.

Two early projects Quest and UCSF will be working on include a research effort to more deeply explore a genetic rearrangement that may be involved in autism development, and another to identify molecular and MRI imaging markers to help doctors pick out pediatric glioma patients who respond particularly well to Novartis's Afinitor (everolimus).

"In order to provide diagnostic information services to physicians and hospitals we believe that the most value comes when all of the information for a diagnostic workup is provided and integrated," Jay Wohlgemuth, senior VP of science and innovation at Quest, told PGx Reporter. Wohlgemuth also noted that an overarching goal of the partnership is to translate research into advanced tests that help make the "best decision for the individual patient."

Personalized medicine often requires the involvement of different medical experts interpreting a variety of data points drawn from a patient's family and medical history. In this environment, Quest sees the need for an integrated diagnostics framework to make efficient use of different types of technologies and tests.

"In almost every field, if you look at diagnostics, the answer is an integrated package of information, and not a single test," he said. "What that can mean is that multiple diagnostic tests are required, or that multiple diagnostic tests are required in some sort of algorithm where you follow a pathway. It also might mean that you need clinical data on the patient and … that you need imaging results" alongside molecular tests.

The partnership with UCSF is aimed at achieving this vision. The two entities have signed a master agreement enabling multiple projects, initially focused on disease areas of mutual interest, including autism, oncology, neurology, and women's health. Under the terms of the deal, UCSF and Quest will conduct research, and develop diagnostics that address specific clinical questions. If from this early-stage work Quest decides to commercialize a test, it will independently develop and validate that diagnostic for the market.

The collaboration with UCSF is an expansion of Quest's internal efforts to develop integrated diagnostics solutions. UCSF researchers "can help with that integration part because they're very strong across many fields of medicine," Wohlgemuth said. "We [at Quest] are also very good at the integration piece because we cross all the different technologies and all the different fields from a diagnostic testing stand point and we're executing on these programs to validate integrated care pathways or validate novel diagnostics."

To date, Quest has launched such a service for heart disease, called CardioIQ, which combines patients' clinical information, such as age, gender, and risk factors, with multiple diagnostic tests for cardiac conditions. The company puts all this information together in a risk assessment report for the doctor. Similarly, for hepatitis C Quest has begun packaging tests for disease screening, diagnosis, management, and monitoring into one offering, so that doctors can use them according to guidelines at the most appropriate time during a patient's disease trajectory. Quest has also launched a third integrated diagnostics package for diabetes patients.

These diagnostics packages offered by Quest provide doctors access to guidelines-supported testing, as well as esoteric molecular diagnostics that use newer technologies. "We have a core integrated offering structured around guidelines," Wohlgemuth said. "Then, in all of those spaces we're also offering emerging or esoteric tests which are not included in guidelines. When we do that, we just try to be very, very clear about what is included in guidelines and what is not,"

For example, he noted, "we may have a panel, for the workup of a diabetic [patient] based on guidelines but then we also offer new testing in that very space separate from that guideline-supported panel."

In the post-Affordable Care Act environment, more and more large lab service providers are marketing their products in the context of decision support tools. For example, Quest's competitor Laboratory Corporation of America recently announced that UnitedHealthcare will use its BeaconLBS decision support platform under a pilot program. Physicians and health plans can use BeaconLBS to not just order tests, but select the appropriate lab to perform testing, issue guideline-supported treatment recommendations, and provide claims adjudication based on clinical and administrative rules.

The ability to access novel tests through Quest's integrated diagnostics program is particularly useful for primary care doctors who, in Wohlgemuth's view, are increasingly having to do specialty workups that they didn't previously have to do. "We have a wave of dementia in the country," he offered as an example. "You've got diabetes in many millions of people. There are not enough specialists in the country to handle the load of all these cases."

As such, through Quest's integrated diagnostics packages, physicians can see what types of testing are within guidelines and which are not, but may be useful in certain patients. "We think having these well thought out care pathways around a disease area helps [doctors] understand how to practice and what the testing is oriented for, and then that provides them a platform for understanding the role of additional new esoteric tests," Wohlgemuth explained. "By delivering a really clear testing framework for them, then that next piece on that emerging biomarker is understood … [and] potentially utilized by them in a clearer fashion than if there were no framework at all."

Although Quest and UCSF will work on multiple projects through their partnership, two near-term efforts are focused on autism and gliomas. In autism, Quest will work with UCSF researchers led by Elliott Sherr, director of the Comprehensive Center for Brain Development, to study a particular gene rearrangement that he believes may be a cause of for the notoriously genetically heterogenous disorder.

In Sherr's lab he has been able to identify this rare genetic rearrangement in a handful of patients. However, with the help of Quest's CGH microarray database containing 32,000 test results from patients with developmental delays and suspected of having autism, the company was able to identify around 100 cases in whom this genetic rearrangement was present.

Sherr and his colleagues will enroll these patients in a study, in which they will delve more deeply into how the genetic marker is associated with autism, the type of autism they have, and whether they will respond to behavioral therapy and different drugs.

"We're very excited about the idea that we can use our very big Health Trends clinical database at Quest to identify what would be rare events in an individual clinic but on a national level we can identify a hundred cases," Wohlgemuth said. "Now it's suddenly possible for this UCSF investigator to actually study this genetic subset."

Quest has been collecting data from all the diagnostic testing it performs in Health Trends for a decade. The database contains information from 142 million patient encounters annually representing 570 million tests and more than 2.8 billion results. There are 500,000 new data entries each day into the database.

One issue of growing importance in ensuring the accuracy of molecular testing results, particularly when it comes to rare genomic markers, is the rate at which a particular diagnostic reports variants with unknown or uncertain association to disease. Wohlgemuth noted that Quest is investing in bioinformatics and partnering with academic centers and data interpretation service providers, such as CollabRx and Ingenuity Systems, to improve the variant calling capabilities of its tests.

"On the academic side, with UCSF, in the autism area … when we have variants of unknown significance, we'd like to pool our data and work with them on variant calling and determination of which VUS are functionally significant," Wohlgemuth said.

In the glioma project, Quest and UCSF will study brain tumors in children being treated with Novartis's Afinitor (everolimus) in the hopes of identifying a molecular marker that can identify best responders to the treatment. The drug is currently approved as a treatment for advanced kidney, advanced pancreatic neuroendocrine tumors, breast cancer, subependymal giant cell astrocytoma tumors due to tuberous sclerosis, and prevention of organ rejection.

"In this study, we're determining whether [glioma] patients will respond to that therapy and whether there are any molecular markers or imaging markers, or a combination thereof, which would predict response to therapy," Wohlgemuth said. "So, this gets us into the integration of MRI imaging data of the brain and molecular data on the tumor itself, and the integration of those two to predict response."

He noted that if the effort produces data that allows doctors to use imaging and molecular markers to identify best responders to Afinitor, then it might lead to the development of a "bona fide companion diagnostic." Such a test, combining the use of molecular and imaging markers based on an algorithm, would require the US Food and Drug Administration's approval, however.

"Ultimately we intend to use these integrated biomarkers in the same way that we use a KRAS test … and that is as an actual, within label, FDA-approved companion diagnostic. And in that case, yes, we would intend to work with the agency, and the new part of that would be to ensure that the software which is utilized to integrate the information is developed in a way which is approvable by the FDA," Wohlgemuth said.

"But we will only do that in the context … where we are studying a drug in a powered [clinical trial setting and in that drug's label we're going to obtain information around that companion test," he continued. "And it's going to be some time before that happens."

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