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MDx Experts See Need for More Test Integration in Providing Comprehensive Cancer Diagnoses


NEW YORK (GenomeWeb) – At the annual College of American Pathologists meeting last week in Las Vegas, Nevada, a panel of diagnostics industry leaders said that omics testing needed to be less isolated and more integrated with other tests to enable clinicians to provide a clearer cancer diagnosis.

"So much of what practitioners do day to day is get into the groove of looking at molecular, but not looking at immunohistochemistry or across other test disciplines," said Robert Daber, vice president of genomics R&D and operations at BioReference Laboratories. Taking down the barriers to integration, he said, involves education across the disciplines and "not having molecular be so isolated as a specialty."

Daber said that BioReference Laboratories has "tried to integrate the groups through various initiatives [including by providing] cross training, so that we can begin to foster conversations about how these tests go hand in hand, and how when we bring them together there is additional value. But from a pure institutional barrier perspective, most of those who practice pathology are practicing in their specialties and not really crossing the different disciplines."

As an example, the panelists discussed the importance of integrating germline and somatic information in providing a comprehensive workup for patients being tested for cancer.

The issue of somatic and germline testing is an open question at the edge of care for how to best integrate information from multiple types of test disciplines, panelist Eric Evans, co-founder and chief science officer at Counsyl, told GenomeWeb in a follow-up interview.

"TP53 gene mutations occur, for example, both in germline and somatic tissues, and as we get older we tend to have a higher probability of having that mutation," Evans told GenomeWeb. "For patient treatment, the question of whether a TP53 mutation is somatic or germline matters a great deal."

Getting that answer might take the form of different tests running in different labs, with information needing to be integrated into an electronic medical record so that the clinician can make a judgment about the likely origin of the mutation, he added. "There are probabilistic methods of having a higher level of confidence of whether it originated in one source or another. But, it's an interesting open question that is of clinical relevance — how would you treat a patient who would test positive for such a mutation?"

The challenge can be overcome by proper implementation of data-sharing procedures, he said. "It could be improved purely through information integration. It need not be that all laboratories need to be able to perform all tests, but that information is made available to make treatment decisions even if it is collected in different places."

Counsyl has embarked on a pilot project with clinics using a criteria-based screening method that assesses patient phenotypes and then infers whether a patient should be tested using guidelines that include personal and family information in evaluating eligibility for receiving an inherited cancer test.

The issue of providing an integrative workup, besides requiring work among people operating in different test disciplines, also calls for connecting oncologists, physicians, and pathologists, said panelist Felicitas Lacbawan, medical director of genetics at Quest Diagnostics' Nichols Institute.

"I am also [anatomic pathology/clinical pathology] trained, but I went in the direction of molecular genetic technologies because at some point I decided that I can look at a slide and say 'malignant,' or 'benign,' or give it some other classification, but the molecular blueprint gives you a more complete diagnosis," she said.

"Right now, a lot of the therapies are based on a molecular course and this is the time for us to learn more and at the same time educate a lot of clinicians about this kind of testing," Lacbawan added.

Although specialization in conducting a given type of test gives a level of comfort because the practitioner thoroughly understands the specialty, the practice of molecular genetics has to be grasped by all specialties, Lacbawan told GenomeWeb. Physicians and other caregivers are on the front line of managing patients who are being tested for cancer. "It's not just oncologists that are dealing with this," she said. Pathologists also play a key role, and "in some cases, just by making a call to learn the family history of medical conditions, you can actually direct which test needs to be done," she added.

Within the clinical community, there's a need to help educate and share knowledge, Lacbawan said. "Each team member facing a patient with cancer should understand that there are so many aspects of it and that maybe a more holistic approach to a treatment plan for a cancer patient needs to happen," Lacbawan told GenomeWeb.

"We're not only treating one patient. We're actually treating the whole family. Ideally an integrated reporting of whatever tests have been done on a cancer tissue excised from a patient could include immunohistochemistry, molecular testing, and histopathology. This would provide a more complete analysis of the tissue and give a clearer picture that the oncologist can use for treatment."

Initiatives are underway at Quest to pursue the path of integrated testing and reporting. Bigger laboratories have an advantage because most of the tests are in one institution, and integrating test information and talking to people in other internal laboratories "to ask for confirmation on to how to interpret results and put together a more meaningful report is actually a good way to service that kind of need," Lacbawan told GenomeWeb.

More broadly, laboratories don't have all of the different tests or services within the same institution to provide a holistic approach to treatment through aggregation of data, she added. However, lacking a broad portfolio of tests provides opportunities for oncology practice groups to collaborate with laboratories that have the capability to provide most of the different types of services required for an integrated approach.

On a daily basis, in automated ways, Foundation Medicine is providing pathologists across the country with files that allow them to integrate that information into other diagnostic tools that they are using so that a comprehensive workup can be provided to clinical partners, said panelist Dave Daly, chief commercial officer of Foundation Medicine. "Today it is extraordinarily important that we find ways to be more open with the data that we generate and that, in turn, needs to be put into the hands of competent professionals such as those in the pathology community," Daly said.

"We recognize that a lot of very valuable information is being generated by all of us in the industry, and sharing that data is important once it has been de-identified and appropriately approved for distribution."

Deborah Boles, associate vice president of R&D at LabCorp, said that she is a strong proponent of de-identifying and sharing information. Within LabCorp, a large database exists "to look for interesting things that can then potentially drive clinical trials with our collaborators," because of the high volume of testing that occurs within the firm.

LabCorp, she said, has been very open with its BRCA database with the belief that open access to that type of information can further scientific research.

"With more participants sharing that information, it allows us to mine the data and interpret results and then move forward again in the development of certain panels that can provide clear and tangible information to physicians," Boles said. "The information can be acted upon in a clinical way, and it seems like only benefits can come from sharing that information, while importantly protecting patients' confidentiality and de-identifying that data in a way that can be utilized by the entire community."

Although educating practitioners about different types of tests and fostering collaboration between clinical professionals are keys to facilitating a more holistic approach to treatment, negotiating the test reimbursement environment is another hindrance that must be addressed. "With reimbursement, the industry has struggled with how you do this," Daber said. "It's not just about the incremental cost of having to do different types of testing. It also puts a lot of additional strain on laboratories who already are not being reimbursed properly."