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Integrating Molecular Tests With EMRs Seen as Essential to Advancing Precision Diagnostics

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NEW YORK (GenomeWeb) – In the future EMRs will have to organize and analyze omics test findings and combine them with other tests so that clinicians can more easily obtain expansive and insight-driven views of patient conditions, according to industry experts speaking recently at the annual meeting of the College of American Pathologists in Las Vegas.

Achieving this goal may be far in the future, as many challenges to such adoption remain, but MDx experts speaking recently on a panel at CAP16 said they are encouraged by the potential of EMRs to tie together vital pieces of information including the results of omics, immunohistochemistry, and histopathology tests. These experts agreed that such an approach was not only needed, but they also see it as being implemented gradually — and they said it would help remove the isolation of the molecular testing discipline in moving towards better patient care.

The CAP16 panel, consisting of people working for MDx test developers and reference labs among other entities, described approaches they were taking to integrate test information with EMRs, and they spoke about the benefits that they saw to achieving integration.

"Germline genetic testing, for example, is a lifetime result that needs to be in the EMR for perpetuity," Felicitas Lacbawan, medical director of genetics at Quest Diagnostics' Nichols Institute, told GenomeWeb. "It is done once and it doesn't change, and it helps with continuity of care."

Lacbawan provided an example of a patient with breast cancer that has tested positive for BRCA1 or BRCA2, but whose results have not been logged in an EMR. During future interactions with clinicians, and without the benefit of EMR reporting, the burden in this instance is put on the patient to proactively report to oncologists or primary care physicians that she has already tested positive for BRCA1  or BRCA2.

"Having an EMR that integrates molecular test results would prevent a retest and serve as a permanent record for the patient everywhere she goes," Lacbawan said. "Hopefully, we can get to the point where all genetic test information is in one format and can be accessible and shared not only with the clinician, but also with other family members. There are challenges with getting there, but it's possible as there are frameworks and infrastructure out there that can be tapped."

Eric Evans, co-founder and chief science officer at Counsyl, told GenomeWeb that he is working on a pilot project with multiple clinics to test out a screening tool that collects family history directly from patients. "If it was a standalone tool and not integrated into the EMR, it would not be nearly as useful," he said. The problem that the tool is solving is that it provides a means to collect family history or personal information and make an assessment of that against a very complex set of rules that decide whether a patient is at high risk of having cancer and should therefore proceed to testing, or not, he said.

The key point is that information is recorded in a location where people can act on it, he said. "Where the physician accesses information and manages the patient's care, that's where information needs to ultimately end up, and that's the EMR," he added.

Counsyl's tool fills an unmet need as information makes its way to the EMR, because collecting family history is not done systematically, Evans said. It's a diffuse responsibility across different health professionals, he added.

Scientific literature indicates that only 17 percent of people get screening that meet criteria for breast and ovarian cancer screening, and about 7 percent get screening that meet the criteria for Lynch syndrome screening, he added. "And what that really boils down to, in our view, are workflow issues," Evans said. "These stem from a diffuse responsibility to collect patient histories and not having an elegant way of making sure that's happening."

In its pilot project, Counsyl is working with health systems that have large patient populations. These health systems want a consistent mechanism of providing care that's the same across sites so that each patient receives the same high quality care, Evans said.

Robert Daber, vice president of genomics R&D and operations at BioReference Laboratories, said during the panel discussion that pathologists are ideally placed to play an important role in the way test data are organized and managed within the EMR. "When you look at health systems and their practices, pathology has some of the best structured data," he said. "In talking about roles that pathology can play, we're used to having to organize and manage data from a testing perspective, and so I think there's a good seat at the table at the broader health-system level to take that expertise and that knowledge and apply it across the larger EMRs."

Meanwhile, Dave Daly, chief commercial officer at Foundation Medicine, said that the firm is working with EMR systems and with its own data networks on transferring electronic files so that they can then be integrated into health systems at hospitals or other practices, and so that they can be de-coupled from Foundation Medicine. "One of the big challenges we have is to ensure that data privacy and compliance is always adhered to," he said. "So again, that is another complexity that we need to work on together."

From a patient perspective, they are "very much interested in helping further research,” Lacbawan said during the panel discussion. "The one thing that helps to convince them that there's a need to share information is they want medicine to advance. At the end of the day whatever comes out of it — whether it's knowledge for the medical community, or a treatment, or information collected from samples that they donate or contribute to the medical community — they take pride in contributing to science."

If the patient is more empowered to know or have access to their information, Lacbawan added, then they will be in a position to share it with appropriate caregivers through channels as convenient as cell phones.

Quest Diagnostics sells a cloud-based electronic health record solution, Care360, which uses a monthly subscription model that, according to the firm, addresses cost barriers that often prohibit physicians from transitioning to EHRs. Also underscoring its belief in the benefits of sharing data, Quest is spearheading BRCA Share, a database of BRCA1/2 variants that's free for researchers, doctors, and patients to access, but for which commercial labs pay a fee. Laboratory Corporation of America also is submitting data to BRCA Share.

Deborah Boles, associate vice president of R&D at LabCorp, confirmed at CAP16 that the firm has been open with its BRCA database with the belief that open access can further scientific research.

In the future, EMRs will analyze whole exomes and entire genomes in addition to storing genetic test results, and they will aggregate information from multiple external or online knowledge bases, according to Jay Ronquillo, founder and CEO of Grinformatics, a biomedical informatics startup in Northern Virginia. The company has created an iPhone app that enables people to donate personal health data on the basis that precision medicine initiatives will require research that not only leverages clinical and genomic data, but also mobile health data.

The app is a mobile health adoption of an open-source health informatics standard used by industry, government, and academic organizations with potential applications to precision medicine research, according to Grinformatics.

"I believe that hospitals and health organizations have made important progress towards integrating omics information with EMR information, although key challenges remain," Ronquillo told GenomeWeb. "For example, there is now increased awareness of the benefits of leveraging genomic and clinical data to improve patient care, particularly for specific areas such as cancer and rare childhood conditions."

Ronquillo noted that the federal government, through new projects such as the Precision Medicine Initiative and the Cancer Moonshot, has recently made the integration of data from EMRs, genomic sequencing, and even mobile health a key national priority. Additionally, he said, the private sector —including companies such as Google, Apple, and IBM, along with a number of startups — are investing significant time and resources into new areas of healthcare that are focused on analyzing or combining genomic and clinical data.

On the other hand, important challenges to broader adoption of precision medicine remain, he added. "At the organizational level, while nationally we have made the transition from paper-based to electronic patient records, many of those systems still cannot effectively share data with each other, clinical, omics, or otherwise," he said.

Additionally, the healthcare industry still has not identified the best way to organize large volumes of diverse data and present it in a way that most healthcare providers can use effectively at the point of care, Ronquillo added.  "However, with the growing enthusiasm of diverse stakeholders, increased focus on the interoperability and usability of EMRs, and changes to the regulatory environment that would foster innovation [and] focus on safety and effectiveness, the future of precision medicine remains promising."