March 15, 2014 (Vol. 34, No. 6)

The ability of physicians to tailor treatments according to distinct characteristics of individual patients—an ability also known as personalized medicine—is becoming more of a reality every day.

One of the driving forces behind this progress is increasing access of physicians to their patients’ genomic information. Personalized medicine could reduce medical costs by eliminating possible treatments not expected to work, and to bring effective therapies to patients sooner by zeroing in on the target treatments that have been shown to be the most effective in other patients with similar characteristics.

Scientists who study how physicians use genomics data in personalized medicine presented their recent work at the Cambridge Healthtech Molecular Med Tri Conference in San Francisco last month.

One of the obstacles holding physicians back from incorporating genomics information into their treatment decisions is simply not being equipped with the knowledge of these new technologies and how they work. The Coriell Institute for Medical Research is developing infrastructure tools that allow doctors to efficiently connect their patients with the best treatments.

Coriell’s research study, known as the Coriell Personalized Medicine Collaborative (CPMC), involves 8,000 study participants, several research and academic institutions, and a panel of expert researchers. The CPMC delivers “potentially actionable genome-informed risk reports to participants,” said Coriell’s president and CEO Michael Christman. CPMC’s researchers follow participants to learn the clinical significance of the genetic data they collect.

“I believe that understanding more about how patients process this information—if they make any lifestyle behavior changes, for instance—will influence the way physicians determine health management strategies,” says Christman.

Coriell also developed a means to bridge the gap between genomic results and patient care. Three core products—GeneVault, GeneExchange, and GeneDose—integrate genomic medicine into clinical care while managing the breadth of information that is obtained through genomic sequencing. This ecosystem allows healthcare providers, patients, and payors to take advantage of the available sequencing technology while carving out and interpreting only that data needed for immediate use and securely storing the data in the GeneVault for future interpretation.

“Our goal is to empower the next generation of medical professionals with access to the top sequence providers and genome interpretation models in order to arrive at the most optimized health solutions,” Christman noted.

The Coriell Institute for Medical Research, a nonprofit research center based in Camden, NJ, is dedicated to the study of the human genome. Coriell maintains several laboratories including the high-throughput Genotyping and Microarray Center.

Losing the Paper

While detailed genomics reports on a patient can point a physician toward a life-saving therapy, the increasing plethora of information can also become an obstacle to efficient care. “We are still in the days of paper-based test reports,” complained Jonathan Hirsch, founder and president of Syapse, which focuses on bringing omics into routine healthcare.

“High-volume omics data is turned into 50-page reports, which are printed and faxed to physicians, then scanned as images and uploaded to their electronic medical records (EMRs).”

Syapse supports patient care by developing systems that organize patient data among hospitals, clinics, and physicians, according to Hirsch. The software assists the physician’s tasks, including sorting through reams of new data, “find[ing] and extract[ing] relevant clinical information from the EMR and other sources, apply[ing] their knowledge about best practices and pattern recognition about prior cases they’ve seen, and [making] a decision about how to treat the patient,” explained Hirsch.

Syapse software is designed to replace paper test results, as well as manual efforts by physicians toward integrating the data and recognizing any patterns within the data. Syapse gives physicians tools for connecting genomics results with clinical data.

“The software then captures physician- or hospital-provided clinical care pathways and patterns, applies these pathways to an individual patient’s data to assist the physician in making treatment decisions, and captures outcomes,” Hirsch elaborated. “Our software assists physicians in visualizing an individual patient’s longitudinal omics and clinical data in order to digest complex information quickly.”

Hirsch believes that for genomics data to become a routine consideration in a physician’s treatments of individual patients, physicians need software tools that can automate common tasks such as data integration and pattern recognition. Clinical specialties such as oncology are already spearheading this move toward developing “‘omics-informed clinical care pathways,” concluded Hirsch.

Interpretive Aids

Even though more patient information is one key to pinpointing successful treatments, sometimes physicians—who need to spend most of their time caring for patients—can use help making sense of the data. GeneKey, a company that helps cancer patients find treatment options by sequencing their tumors’ DNA and RNA, encounters physicians who are unfamiliar with how the genetic tests work, and how to interpret the results.

Indeed, GeneKey’s founder, president, and chief scientist Raphael Lehrer, Ph.D., has observed “a disconnect between the information provided and the information needed” to treat patients. Physicians sometimes have “unanswered questions about the results themselves, and lack a comfort level about what’s happening with the test,” he said. “Another obstacle oncologists sometimes face is that they have too much data, but don’t know what to do with all of it.”

GeneKey tries to assist oncologists and their patients in overcoming this obstacle to treatment by analyzing the genomic sequence data for points that deviate from normal, comparing them to what is expected for the type of cancer, and integrating full DNA exosequence data with RNA sequence data as well.

“We’re looking for triangulation around key problems,” explained Dr. Lehrer. “Is the cancer affecting the cell the way that it is predicted to? Where has the biology changed radically? Which therapy is effective for that?”

The sequence data are so rich that GeneKey then proceeds by meeting with the patient’s physician to present a data report, much like an entire conference for just one patient. Based on the results, GeneKey then recommends one to three treatment strategies that it predicts will be successful.

These strategies almost always involve currently available cancer drugs and non-cancer drugs that have been repositioned with success as cancer therapies and investigational drugs in clinical trials. Generally, GeneKey favors market over investigational drugs and takes into account drug accessibility and availability.

The Big Picture

While the goal of personalized medicine is to care for patients more effectively by using data particular to each patient, it’s easy to lose sight of the forest for the trees at times.

“Physicians will not need to become experts in genomics,” emphasized Coriell’s Christman. “They need to be able to order tests that come with clear clinical interpretations.”

The key to more effective personalized medicine may be to use technology while still keeping the forest in view. “All of the logistical and technological considerations,” Christman stated, “bog down what is essentially a simple construction: a doctor using the most personal approach to treat a patient.”

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