Personalized medicine

July 1, 2012

Essential role of companion diagnostics in personalized healthcare

Companion diagnostics plays an integral role in personalized healthcare. Through testing for specific genetic variations related to certain biomarkers, health professionals can choose from different treatment options to achieve the best possible therapeutic results and avoid unnecessary treatments.

Treatment of late-stage colorectal cancer is an example of success in companion diagnostics. Approximately 40% of patients with late-stage colorectal cancer have mutations in the KRAS gene, which preclude the efficacy of EGFR targeted therapies in their treatment. Without testing for this genetic variation, these patients may undergo treatment with a therapy that will not provide a benefit, wasting precious weeks and thousands of dollars while possibly causing additional suffering from toxicity and side effects.

Pharmaceutical companies, regulatory bodies, and payers increasingly view companion diagnostics as an essential part of treatment solutions. Incorporating biomarkers into drug development dramatically increases clinical trial process efficiency, reducing costs and resulting in improved safety/benefit profiles. According to Tufts Center for the Study of Drug Development, approximately 65% of preclinical products currently in pharmaceutical pipelines include biomarkers.

Incorporating biomarker information into the labels of existing drugs also can help to maintain the positive safety/benefit profile of the medications. The FDA currently requires biomarker information on the labels of 115 drugs. The core diagnostic and therapeutic segment of the market—comprised primarily of diagnostics, pharmaceutical and medical device companies—plays an essential role in personalized medicine.

—Paul Ravetto, MSc, BSc
Associate Director of Program Management
Provider of companion diagnostics and biomarker research assays

Accurate disease identification, prognostication, and treatment

Understanding disease as a multifaceted entity and correlation of test results has become more common, thus providing more accurate disease identification, prognostication, and treatment. This has led to the concept of personalized medicine, where understanding a given patient’s unique disease presentation on all levels enables a physician to select the treatment that is most effective for that patient. Two cornerstones of successful personalized medicine are the correlation of the result and patient information to the efficacy and safety of a treatment, and the availability of the test and its interpretation. Many pharmaceutical companies are combining drug development with genetic testing to identify genetic markers that correlate with patient responses during their clinical trials. This approach will optimize the efficacy of the treatment while minimizing the adverse effects.

Genetic research and testing can produce large amounts of data that must be analyzed, stored, and correlated not only with drug reactions, but also with many other patient characteristics. Customizable and robust software must be employed to support the analysis, storage, and correlation efforts, and to establish the large number of possible test protocols. Likewise, this software should be capable of providing physicians or testing labs with online availability of the most current test interpretations and recommendations, which will be crucial for the successful practice of personalized medicine.

—Laurel Estabrooks, PhD, FACMG

Vice President of Genetics Business Development

SCC Soft Computer

Provider of Genetics Information Systems Suite™

Impact of personalized medicine

In 2001 we announced the completion of the human genome. Since then a new era of science has dawned. We are not only understanding the molecular and genetic basis of disease from a research perspective but we are utilizing this information in clinical decision support: what do I do with this patient? We have always practiced personalized medicine (PM), but in the past we practiced with tools that provided general direction. Through the introduction of genomics and other tools now available we are beginning to understand how to manage disease and where/how a drug should be utilized/not utilized.

The sheer number of genomics manufacturers making their way into the clinic is quite amazing. The adoption of some of these markers is more amazing. The impact of PM on medicine and the clinical laboratory is and will be profound. Many will be affected: industry, regulators, physicians, payors, patients, and the general public.

—Harry Glorikian, MBA

Managing Director

Scientia Advisors

Provider of growth strategies for companies in healthcare

Gene expression testing in metastatic cancer

Molecular diagnostics will play an increasingly important role in the personalized treatment of patients due to the information we are learning from genomic analysis and the increased power of informatics to analyze a large number of genes simultaneously. We’ve applied these developments in oncology, where the first step is identifying exactly what kind of cancer the patient has by using a test to help diagnose hard-to-identify tumors, including those that are metastatic or that have a complex clinical history.

Cancers are best treated according to their respective sites of origin and tissue type, even when the disease is metastatic at the time of diagnosis. An accurate diagnosis of the primary tumor site helps the physician choose the best course of treatment for the patient. One new advanced technology uses a tumor’s own genomic information from standard FFPE pathology samples to assist in identifying its origin. The test performs a gene expression profile on 2,000+ genes of a patient’s tumor and compares it to 15 different cancer tissue types in a database to identify the most likely tissue match and rule out unlikely types.

What makes this test “state of the art” is the ability to analyze a large number of genes simultaneously, by utilizing proprietary informatics approaches.

—W. David Henner, MD, PhD

Chief Medical Officer

Pathwork Diagnostics, Inc.

Provider of the Pathwork Tissue of Origin Test

Companion diagnostics

Today’s healthcare stakeholders are demanding clearly differentiated treatments with distinct advantages over existing therapies. Historically, conventional medicines have often been prescribed on a one-size-fits-all basis, and the result has been a large number of adverse drug reactions and false diagnoses. Patients and healthcare providers are seeking accurate diagnostics and more effective, better tolerated therapies. Personalized medicine—the right therapy for the right group of patients at the right time—can play a key role in optimizing patient care and reducing overall healthcare costs. New technologies and insights from genetics, genomics, and proteomics have enabled us to track the biology of diseases and translate this molecular-level knowledge into new targeted diagnostic tests and treatments. Emerging companion diagnostics, for example, already enables physicians to identify patients who would be most likely to benefit from the associated drug. This targeted aspect of personalized medicine will continue to expand the potential opportunities to reduce the risk of ineffective treatment and avoid the trial-and-error approach that is still common in today’s medicine. As a result, it should lead to tangible improvements in medical care and create value for all stakeholders.

—Mark Rutledge, MBA

Director of Marketing, Molecular Diagnostics

Roche Diagnostics

Paradigm shift in molecular diagnostics

Growth of the worldwide molecular diagnostics market is poised for reacceleration. This trend will be driven by companies who are innovative and looking to develop low-cost multiplex PCR technologies that offer high sensitivity, specificity, and reproducibility while being run on existing real-time PCR instrumentation. This type of technology innovation will enable traditional diagnostic companies, as well as a wide spectrum of nontraditional players, to bring new molecular diagnostics (MoDx) solutions to market.

In recent years, widespread adoption of molecular diagnostics has been hampered by high test prices and limited detection capabilities. With the advent of a new class of molecular diagnostic tests that promises to provide a manifold decrease in cost and the ability to simultaneously test for many targets per test through “high multiplexing,” growth in the market is expected to resume, particularly in high-interest medical areas such as infectious disease testing, genetic analysis, and personalized medicine. Armed with these new MoDx tests, clinicians will be able to make more informed healthcare decisions, faster and at a lower cost. These types of tests, if successfully commercialized, will cause a paradigm shift in molecular diagnostics, a shift to well-conceived tests that can be utilized in a preemptive or proactive manner.

— Jong-Yoon Chun, PhD

Founder and CEO

Seegene, Inc.

Provider of Anyplex™ system for multiplex real-time PCR

Solving the information overload

The wide adoption of personalized medicine is going to require a new kind of tool: software able to take all the genetic variations, lay them over the set of more familiar patient data (gender, weight, etc.), and translate the mass of undigested information into something physicians can manage and manipulate. We call this set of software tools “companion informatics”—detailed and constantly updated algorithms that reflect the best scientific understanding of the interplay between genetic variations and possible treatment paths.

Companion informatics does not and likely will not ever replace the judgment of physicians and patients. Rather, it in effect provides the ability to model in real time a variety of treatments, and to judge the most appropriate for a specific patient.

The first primitive companion informatics systems are already in the marketplace. They are usually focused on a single drug affected by a single gene. They color code (often using stoplights as a visual metaphor) whether a drug can be used with confidence or with caution, or should not be used at all. Far more robust systems are in development, crunching genetic data not just for single drugs but for complicated medical conditions that require several simultaneous treatments to be effective.

—Roland Valdes, Jr., PhD


PGXL Laboratories

Provider of pharmacogenic laboratory

and assay development services

Remodeling the way care is delivered

Personalized medicine can no longer be regarded as just a fancy buzz phrase used to denote some far-off future vision of healthcare. Rather, it is a very real concept unfolding before us and influencing many of today’s decisions among healthcare professionals, policy makers, vendors, and patients. At its heart, personalized medicine aims to remodel the way care is delivered, ensuring its long-term sustainability and effectiveness by keeping costs low and quality high.

Companion diagnostics is widely considered a major step toward the vision of personalized medicine, and it is easy to see why. By linking clinical tests to specific drugs or therapies in order to better identify subpopulations of patients more or less likely to respond favorably, physicians are given increased confidence in recommending certain treatment options. We have announced new companion diagnostics partnerships with two pharmaceutical companies targeting the development of novel diagnostics tests for physicians treating HIV and brain cancer. We see a great need to be part of an effort that ensures safer, higher quality as more targeted drug therapies are developed and administered for these and other critical diseases.

—Trevor Hawkins, PhD

Senior Vice President, Strategy and Innovation

Siemens Healthcare Diagnostics