By Chrystal Adams, Associate Vice President, XIFIN and Don Rule, CEO, Translational Software

There is ongoing effort in healthcare to integrate and expand the use of patient data to improve clinical decision making and support cost-effective, patient-centered care. Much of the needed data resides within the diagnostic specialties of pathology, radiology, laboratory, and molecular diagnostics.

At the same time, implementation of the federal government’s Precision Medicine Initiative is providing clinicians with genetic knowledge and tools to determine more precise medical treatment. Tumor profiling and genetic testing are becoming integral to patient diagnostics. The use of pharmacogenomics (PGx) is also accelerating to determine how an individual’s genomic makeup will impact their response to specific medications to tailor personalized, safer, and more effective therapies. Moving forward, integrating diagnostics with genomics will be key to a new kind of healthcare.

Clinical Value

There is no stronger example of the need for integrated diagnostics than the management of cancer where data from multiple modalities is required to help improve the timeliness and accuracy of the diagnostic process. Hospital Tumor Boards — meetings where complex cancer cases are discussed in significant detail — are routinely conducted in a multidisciplinary team environment with participation by a number of sub-specialties. A big area of focus is addressing any areas of discordance between the radiology results and pathology findings before a final diagnosis is rendered.

The effectiveness and toxicity of a number of medications commonly prescribed for cancer treatment can vary significantly based on the patient’s genetic profile. Genomic-based tools make it possible to analyze germline PGx biomarkers as part of the diagnostic process to evaluate medication response to anticancer therapies and medications commonly prescribed for comorbid conditions for cancer patients.

Testing for a number of well-known genetic variations can enable more effective treatments and better outcomes. Targeted panels of these variations can be tested with either PCR or sequencing technology. In some cases, tests used to sequence tumor tissue may be used to interrogate the variations that are of interest. This genomic information can be reviewed in context with tumor-profiling reports to tailor and optimize a course of therapy guided by knowledge of both the somatic (tumor) and the patient’s genetic profile.

Challenge With Integrating Diagnostics 

One of the biggest challenges facing healthcare is poor interoperability between data systems. A patient’s diagnostic data is often siloed in separate stand-alone systems that do not easily lend themselves to data integration. In addition, communication between providers across disciplines is often done via emails, phone calls, or text messages with no formal record or summarization of the discussion for others on the care team.

Through healthcare reform initiatives, most healthcare organizations have implemented EHRs to serve as the central repository for all patient data throughout a health system. However, many EHR systems are not capable of storing diagnostics data in the format required, or within the clinical workflow. For example, storing pathology slides and molecular data requires megabytes to petabytes of data, making it impossible to manage in an EHR system. Nor are most EHRs able to incorporate or leverage complex genomic information.

While physicians are currently taking a systematic approach to integrated data access and review within the limits of their existing information system infrastructure, a more progressive approach is needed to better evaluate how the molecular, radiology, and pathology data interrelate and impact the course of patient treatment across the continuum of care.

The good news is healthcare has made great progress in developing new, standards-based technologies for processing and accessing healthcare information. Application Programming Interfaces (APIs) developed using the Fast Healthcare Interoperability Resources (FHIR) specification, a new open-sourced standard based on HL-7 for exchanging healthcare information to ensure interoperability and security, is one of the latest tools enabling health systems, labs, and software developers to accelerate development of new capabilities and applications.

Other technology advancements such as telemedicine capabilities and emerging cloud-based platforms in laboratory, radiology, pathology, and genomics are making it possible to capture and integrate test results, pertinent digital images from pathology and radiology, tumor profiles, PGx data, and other lab diagnostics into a combined diagnostic report (CDR).

The Integrated Diagnostic Report

Integrated reporting offers a major opportunity to bridge diagnostic information and aggregate the needed information in a report that clinicians can access electronically to inform better and faster clinical decisions, and enhance the multi-disciplinary care team’s ability to improve treatment planning.

A single report makes it easier to review and discuss tissue, radiology images, and genomics data in context to foster better consultation on cases, or make presentations for educational conferences such as Tumor Boards. Since an integrated report aggregates and displays relevant text, tissue samples, and images, clinicians can review a patient’s case without having to worry about missing information or retrieving glass slides or radiology films. In addition, comparing findings between disciplines may prevent clinical discordance and unnecessary diagnostic workup for a better patient experience.

Integrating clinically significant drug-gene associations in the CDR report will help manage dose-limiting toxicities of anticancer medications and help members of the cancer care team in selecting the right treatment with commonly used drugs such as antiemetics, anticoagulants, antidepressants, and analgesics.

Rich reporting capabilities may offer the ability to link highlighted text in the diagnostic report to more detailed pathology, X-ray, or genetic test results data to help improve diagnostic certainty or provide access to specific data points across episodes of care.

Leveraging technology for integrated diagnostic and genomic reporting has significant potential to inform precision-based treatment and support collaborative, patient-centered care.

About The Authors

Chrystal Adams serves as Associate Vice President for San Diego-based XIFIN, Inc., developers of a health economics optimization platform used to streamline diagnostic and business decision-making.

Don Rule serves as CEO for Seattle-based Translational Software, Inc., which provides solutions and a powerful PGx portal and knowledgebase to support clinicians adopting personalized medicine.

Source: XIFIN