Advances in Genetics and Genomics in Everyday Practice

Advances in Genetics and Genomics in Everyday Practice

As knowledge of the genetic underpinnings of cancer has expanded, so too have the tools at clinicians’ disposal to take advantage of that knowledge. Oncologists have much to keep abreast of in terms of genetic technologies, interpretation of tumor and/or germline genetic data, and advances in testing and pathology. On May 28 and May 29, experts held a Pre-Annual Meeting Seminar entitled “Genetics and Genomics for the Practicing Clinician” aimed at bringing some of those difficult and complex topics into focus for oncologists.

“The purpose of this seminar was to reacquaint clinical oncologists and pathologists with the concepts behind genomics in the clinic,” said Elaine R. Mardis, PhD, of the Washington University in St. Louis, and co-chair of the seminar’s planning committee. “The genomic investigation of germline susceptibility to cancer and the somatic genome of the cancer itself have become incredibly powerful tools to the clinician in the era of next-generation sequencing,” she said. “But many clinical cancer care specialists are unfamiliar with the foundational concepts of next-generation sequencing and its applications.”

The seminar was designed to fill some of those gaps.

Newest Technology and Pathology

The seminar began May 28 with an overview of the available technologies and pathology, chaired by Dr. Mardis and her planning committee co-chair Michael F. Berger, PhD, of Memorial Sloan Kettering Cancer Center.

The session included discussion of genomic technologies and their applications to cancer, molecular pathology, state-of-the-art advances in somatic and germline testing, and in strategies for using these new tools. “It is important that practicing oncologists and other cancer care providers understand the variety of tests available, when they should be administered, and what to consider when interpreting the results,” Dr. Berger said. “We put together a really exciting program covering both tumor and germline analysis.”

Clinical Interpretation and Case Studies

The second session on Thursday focused on interpretation of results of the newest tests and included discussion of both somatic and germline testing results. It was chaired by Marie E. Wood, MD, professor of medicine and director of the familial cancer program at the University of Vermont. Dr. Berger pointed out that though testing clearly offers crucial information and a way to tailor treatment to each patient, “it can also reveal unexpected inherited susceptibilities to cancer and other diseases, with major consequences for patients and their families.”

Finally, on Friday the seminar included two sessions of case studies—one related to germline genetics and the other on somatic genetics. These were chaired by Kenneth Offit, MD, MPH, chief of clinical genetics service at Memorial Sloan Kettering Cancer Center, and Michael F. Berger, PhD, also of Memorial Sloan Kettering Cancer Center.

“Overall, we wanted to reflect how things have changed with high-throughput sequencing and analysis for clinicians, and to help them understand the remaining barriers to implementation—clinical utility and insurance reimbursement being two that seem to figure prominently,” Dr. Mardis said.

The Pre-Annual Meeting Seminar modules are available for purchase at the ASCO University® Bookstore. To purchase, visit the ASCO University Bookstore onsite (Oncology Professionals Hall, ASCO Central, Booth 7004).