There’s even a company called Translational Software providing a service to incorporate enriched information about such tests into the reports that labs deliver to doctors

Personalized medicine is the good news story in healthcare and clinical laboratory medicine today. Armed with new understanding about the human genome, physicians are able to customize therapies for patients that will produce the best outcomes while avoiding or minimizing the negative side effects associated with many common prescription drugs.

This is why pharmacogenomics testing is a booming segment of the clinical laboratory industry. On its website, the Duke Center for Personalized and Precision Medicine describes this emerging lab medicine specialty as follows: “Pharmacogenomic tests are used to inform dosing and predict efficacy and adverse events for therapeutic agents. Most tests involve genetic testing, and in the case of cancer, both the DNA of the host and the tumor can be used to inform the choices for treatment.”

Pharmacogenomic Testing Is a ‘Good News’ Story for Clinical Laboratories

Skyrocketing physician interest is the good news aspect of pharmacogenomics testing for medical laboratories and anatomic pathology groups. Every day, more physicians want to use pharmacogenomic testing in their clinical practice and that fuels rapid increases in demand for these types of medical laboratory tests. A report from Research and Markets shows the pharmacogenomics segment of the genotyping market is expected to grow at a combined annual growth rate of 23.4% through 2020.

There are solid scientific reasons for this interest in pharmacogenomic testing. According to the Mayo Clinic, some patients might not respond at all to certain medications. As well, experts estimate that about 75% of Americans have genetic variations that affect their response to medications.

Medical Laboratories Face Challenges When Offering Pharmacogenomic Tests

In the midst of all this good news and burgeoning demand for these tests, however, there are challenges for labs. For starters, medical laboratory scientists need to be smarter and more diligent in supporting physicians who order pharmacogenomic tests. Labs must have pathologists, Ph.D.s, and clinical laboratory scientists who possess the skills, knowledge, and experience to perform complex pharmacogenomics tests and help physicians when ordering such tests and when interpreting the results.

A second major challenge for labs is the need to have sophisticated informatics capabilities to collect, store, and analyze the data produced by pharmacogenomics tests. Clinical laboratories offering such assays report huge increases in the volume of lab tests data they must handle.

A third daunting challenge confronting labs is the requirement that the data produced by pharmacogenomics be annotated and assessed by trained professionals. To achieve this, labs must stay up with new research findings and relevant studies in peer-reviewed journals. All of this ever-changing information needs to be updated and refined so that the laboratory is offering state-of-the-art pharmacogenomics test results, accompanied by appropriate interpretive guidance that allows physicians to make informed decisions about the best options for treating their patients.

There is a fourth challenge. That is the fact that many health insurers, including Medicare, are so overwhelmed with the number of new genetic tests and molecular diagnostic assays that they are unable to stay current with lab requests for coverage guidelines and reimbursement decisions.

Reimbursement for Pharmacogenomic Tests

In the face of this unprecedented growth in the number of new molecular and genetic assays reaching the clinical marketplace, payers have been caught off guard. In order to make informed coverage decisions, they point out that clinical studies and clinical evidence does not exist to support the accuracy and clinical usefulness of many pharmacogenomic tests.

Payers also state, with much truth, that many physicians lack the knowledge needed to order these pharmacogenomics tests appropriately, nor do some physicians know how to use the results to make the right therapeutic decisions for the patient. This knowledge gap is one reason why some first-mover clinical laboratories in academic medical centers are using genetic counselors to work with patients and physicians to ensure that the right genetic test is ordered for the right reasons and that physicians then interpret the results correctly so as to select appropriate therapies.

Meeting the Challenges of a New Diagnostic Technology

“Like most new technologies, pharmacogenomics presents tremendous opportunities, but there are challenges in making it ubiquitous,” stated Don Rule, Founder and CEO of Translational Software. “The good news is that a growing number of physicians have prescribed pharmacogenomic tests and are enthusiastic about their ability to help resolve complex clinical issues and reduce the ‘time to cure’.”

Don Rule, Founder and CEO of Translational Software

To succeed with a pharmacogenomic testing program, clinical laboratories and pathology groups should be diligent about continually updating the knowledge base used to annotate and interpret the results of such testing, noted Don Rule, Founder and CEO of Translational Software. (Photo copyright Translational Software.)

“One of the challenges is that payers do not have direct experience providing care and are justifiably cautious about shouldering the costs,” he continued. “Until they catch up with the field, savvy pathologists and medical lab professionals need to demonstrate to health insurers how appropriate use of these pharmacogenomic tests contributes to improved patient care.

“One way to meet this particular challenge is for clinical labs to do a better job of educating physicians about when it is appropriate to order such tests, then provide those physicians with more detailed lab test reports that help them optimize treatment decisions,” added Rule.

Knowledge Gap When Ordering and Using Pharmacogenomic Tests

In fact, pathologists and physicians often face a common knowledge gap that Rule would like to fill. In 2009, he founded Translational Software Inc., in Bellevue, Washington, to help labs educate physicians about the best ways to use the results of pharmacogenomic tests. The company integrates genetic information into clinical care and works with more than 80 molecular and genetic testing laboratories to support more than 10,000 physicians who order these tests.

“Client labs use our service to enrich the basic test results that a medical lab typically reports to physicians,” noted Rule. “We provide the clinical relevance regarding pharmacogenomics testing to ordering clinicians. This information makes the test result more actionable for the physician and the fact that it is backed by solid research and references can help the lab demonstrate the value to payers.”

Delivering a Medical Lab Test Report with Enriched Information

“Take the example of a geriatric physician,” he continued. “Senior citizens often consume many medications and it can be very difficult to resolve complications or lack of efficacy for those drugs. Along with the basic test results, we provide relevant guidelines and background information—supported by the literature—to help the physician understand how the drug will react for that patient with his or her specific genetic profile. This allows the physician to pinpoint issues and solve problems that would be very difficult to resolve through trial and error.”

Recognizing that pharmacogenomics testing is a growing field. The Dark Report has produced a new white paper, “A Lab Leader’s Guide To Pharmacogenomic Testing (PGx): Cloud-Based Software Reporting of PGx for Hospitals, Health Systems and Clinical Laboratories,” which can be downloaded here.

In the white paper, experts explain the value of pharmacogenomic testing and the specific ways that clinical labs and pathology groups offering these tests should organize the test results and relevant information when they transmit the lab test reports to clinicians.

One of the experts quoted in the white paper is Matthew McCarty, M.D., the owner, director, and CEO of Genotox Laboratories in Austin, Texas. Genotox uses pharmacogenomic tests to help physicians avoid the “one drug fits all” trial-and-error approach to prescribing for such medications as benzodiazepines, opiates, and selective serotonin re-uptake inhibitors (SSRIs). He shares some of the lessons learned by his lab as his team worked to deliver more value to ordering physicians by using lab tests reports that contained enriched information that was actionable for these physicians.

Many Patients Want to Understand How They Metabolize Medications

An interesting development in the pharmacogenomics testing market recognized by McCarty is that patients are keenly interested in this type of testing. “Many consumers have learned about personalized medicine,” said McCarty. “They understand that they may personally react much differently to certain medications than other people.

“More specifically, they want to figure out why they can take a medication and have specific side effects, but, for instance, their children may not have those side effects,” he said. “Therefore, we’ve learned that it is smart for our lab to include, along with the lab test report to the physicians, information to inform the patient about why the specific tests were ordered for them and how the test results will guide the physician’s decision on selecting a specific therapeutic drug and selecting an appropriate dose.”

—Joseph Burns

Related Information:

A Lab Leader’s Guide To Pharmacogenomic Testing (PGx): Cloud-Based Software Reporting of PGx for Hospitals, Health Systems and Clinical Laboratories

Mathematical Modeling of Systems Pharmacogenetics by Researchers at Penn State May Create New Opportunities for Clinical Pathology Laboratories

Clinical Laboratories and Research Organizations Are Racing to Get Low-Cost, Handheld DNA Analyzers to Market

Pharmacogenomics Gains Traction—With Some Help Nearly a Billion Prescriptions Could Benefit Annually

Attitudes of Clinicians Following Large-Scale Pharmacogenomics Implementation

Other Free White Papers by Dark Daily