Ken Hampel, Ph.D., a technical specialist in the Department of Pathology and Laboratory Medicine, holds a specially-designed glass chamber called a flow cell, in which DNA sequencing happens. Etched into the small flow cell is a single, fourteen square millimeter channel. On each square millimeter of the channel, approximately one million individual sequencing reactions are simultaneously read by the Illumina MiSeq sequencing instrument. (Photo: UVM COM Design & Photograph)
UVM Chair of Pathology & Laboratory Medicine Debra Leonard, M.D., Ph.D., left, and Nikoletta Sidiropolous, M.D., Assistant Professor of Pathology & Laboratory Medicine (UVM COM Design & Photography)
Next month, the University of Vermont Medical Center Department of Pathology and Laboratory Medicine will launch a test that will help physicians better understand the specific molecular pathways of these types of cancers, and – more importantly – determine a personalized treatment for each patient.
The new test – called the GenePanel Solid Tumor – relies on next-generation sequencing methods and close work with the cancer care team to ensure appropriate access to the test and use of the test results. This effort, led by pathologist Nikoletta Sidiropoulos, M.D., with support from leading genomic medicine expert and UVM Chair of Pathology and Laboratory Medicine Debra Leonard, M.D., Ph.D., will provide patients with access to the first genomic test to enable pathologists and oncologists to identify mutations responsible for an individual patient’s cancer, and therefore also use targeted therapies more effectively.
Targeted cancer treatments can be more effective in killing the cancer cells, often coupled with more traditional cytotoxic chemotherapy, says Leonard, who has 23 years of experience in molecular pathology and received a Lifetime Achievement Award in October 2015 from the College of American Pathologists. She worked with Sidiropoulos, an assistant professor of pathology and laboratory medicine, and other clinicians to develop a plan for the use of genomic testing at UVM Medical Center. The first genomic test and care pathway – which involves examining 29 cancer genes that predict response to targeted treatments in solid tumors – will go live in January 2016.
Over the next several years, other genomic tests will be introduced for blood cancers and for inherited risk of cancer. The inherited risk test will help identify individuals and families with a higher risk of cancer, allowing closer monitoring for new cancers to identify cancer at an earlier and more treatable stage, or so that preventive strategies can be offered.
After focusing on cancer testing, the team will develop a pharmacogenomic test that predicts optimal drug dosing and adverse drug reactions. The final genomic test focuses on inherited diseases, most likely examining the genome of individuals with specific inherited diseases or disease risks.
“We still have a lot to learn about the use of genomic tests in medical practice,” Leonard says.
Even with a well-designed test, some or even many of the mutations identified in cancers will have uncertain significance for response to targeted treatments. Equally important, she adds, is the need to assess whether the use of genomic information in healthcare really does lead to better outcomes for patients and more cost-effective care. She and colleagues would like to be able to answer the question “Does genomic testing improve the value of healthcare?”
This genomic value question will be examined with each new genomic test being introduced at the UVM Medical Center, which recently provided support to Leonard, Sidiropoulos, and Greg Robinson, Ph.D., a healthcare economist and vice president of OneCare Vermont, to study the value of the GenePanel Solid Tumor test.
“Not many places are looking at this type of health services research to assess the value of genomics, but in Vermont, it is so important,” Leonard says. “Here, I need to demonstrate that genomics has value, or we should not be doing this type of testing. Our hope is that genomics offers a promising future for our patients.”
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