April 1, 2016

New Whole Exome Sequencing Plus Pharmacogenomics Test Now Available

By Jeff Briggs



Regular visitors to the Center for Individualized Medicine blog know that whole exome sequencing and pharmacogenomics are frequent topics here.  Both are crucial elements in the Center's commitment to and development of precision medicine.  Now we're excited about bringing them together to provide patients with more individualized care and better answers to their health care needs.  The Department of Laboratory Medicine and Pathology (DLMP) in collaboration with the Center for Individualized Medicine (CIM) and Department of Clinical Genomics recently announced the launch of the new Whole Exome Sequencing Plus Pharmacogenomics (WESPP) test.

Dr. Matthew Ferber

Dr. Matthew Ferber

“WESPP is a progressive and advanced laboratory test that will transform how genetics is incorporated into medical practice,” says Matthew Ferber, Ph.D., co-director of the Molecular Genetics and Clinical Genome Sequencing Laboratories. “While the utility of the current test is limited to families with an undiagnosed genetic condition, we envision a future where any individual Mayo Clinic patient could be sequenced, if their symptoms were consistent with a genetic etiology for their disease. We are excited to be moving in the direction where any eligible Mayo patient could experience the benefits of this test.”

WESPP utilizes next-generation sequencing technology to look simultaneously at a patient’s approximately 23,000 genes and, potentially, identify an underlying genetic cause for their condition. This is especially helpful for those patients who are considered a diagnostic odyssey — where a genetic etiology has been suspected, but has not yet been identified. Pharmacogenomic results, which help to predict a patient’s response to medications, will also be included in a separate report and may help personalize the treatment of the patient.

Dr. Konstantinos Lazaridis

Dr. Konstantinos Lazaridis

“We are thrilled that our DLMP partners are able to bring WESPP testing to the clinical practice,” says Konstantinos Lazaridis, M.D., director of the Individualized Medicine Clinic. “Whole exome sequencing has already impacted the care of selected patients with rare medical conditions. Given our experience, research efforts and ongoing pilot practices we put together, it is anticipated that WESPP testing will be important for the care of a diverse group of patients in years to come.”

Blood samples from the patient, mother, and father, are required for WESPP testing. Comparing the patient’s results to the parents’ will aid in the interpretation of genetic variants and help to determine which variant(s) are responsible for the patient’s medical problems. The patient’s results will be stored safely and securely and, as clinical concerns evolve, there may be an opportunity to reanalyze the results. This provides a venue to keep the patient aligned with Mayo Clinic as a trusted partner for their health care.

WESPP is available enterprise-wide for Mayo Clinic patients. Insurance prior authorization is advised.  Pre-test clinical evaluation and genetic counseling, as well as interpretation of results with counseling, are available within the enterprise Department of Clinical Genomics.

More Information
For more information, please email RSTGCWES@mayo.edu.

Watch this video of Matthew Ferber, Ph.D., co-director of the Molecular Genetics and Clinical Genome Sequencing Laboratories and William Morice, II, M.D., Ph.D., chair, Department of Laboratory Medicine and Pathology talking about a new sequencing test for patients.

Tags: center for individualized medicine, Department of Clinical Genomics, DLMP, Dr. Konstantinos Lazaridis, Dr. Matthew Ferber, next generation sequencing, pharmacogenomics, Precision Medicine, Uncategorized, whole exome sequencing, whole exome sequencing plus pharmacogenomics

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