Clinical OMICS

MAR-APR 2019

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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22 Clinical OMICs March/April 2019 What are the most significant advances in precision medicine/genomics over the past five years? Mardis: In my opinion, the most significant advances are the increasing numbers of FDA-approved targeted and immunotherapies in cancer, most of which can be correlated to genomic aspects of cancers includ- ing specific genes/mutations of known cancer driver genes, and immunogenomic metrics such as increased neoantigen load, microsatellite instability in the set- ting of mismatch repair defects that predict sensitivity to immune checkpoint blockade inhibitors, or sensi- tivity to PARP inhibitors in the setting of homologous repair defects. Also, monotherapy and combinations of these ther- apies are yielding important durable responses in cancer patients. How has your work supported these advances? Mardis: Our work has been integral in identifying new driver mutations such as IDH1/2 mutations in acute myeloid leukemia, which is now targetable by an FDA-approved therapy. We also have helped to define the significantly mutated genes in ER+ breast cancers, including late relapse ER+ disease, by sequencing can- cer samples accrued in clinical trials. We have helped to define one of the resistance mechanisms that lead to acquired resistance to PI3 kinase inhibitors. Our work in neoantigen prediction has led to a highly utilized computational pipeline, pVacSeq, that can identify neo- antigens in cancers and has been used to design person- alized vaccines for several clinical trials. What are the biggest challenges and/or opportunities that lie ahead? Mardis: The biggest challenge in precision medicine is universal access that enables all cancer patients to have therapeutic options identified through precision medi- cine approaches as they progress from the standard of care. As increasing numbers of patients are able to access genomic profiling, their providers should be enabled to use these data to better evaluate treatment options in a way that doesn't require access to high-level computa- tional capabilities, but rather provides web-based tools for data upload and evaluation, returning information that is readily interpretable in the context of patients with similar profiles, and providing insights to apply new therapeutic modalities. We also need insurance payors to understand the value of these approaches in terms of quality-adjusted life years for patients and to reimburse the testing that will ensure precision medi- cine is available for all cancer patients who need it. What is your vision for the future of precision medicine/genomics? Mardis: Ideally, that all cancer patients can avail them- selves of diagnostics that inform precision cancer med- icine, and can benefit earlier in their disease course, rather than later, thereby reducing associated morbidity of chemotherapy and radiotherapy. This concept is espe- cially important for our pediatric and adolescent/young adult patients, who still should have long and healthy lives ahead of them. ELAINE Mardis, Ph.D. Nationwide Children's Hospital ANNIVERSARY ISSUE

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