Multiplex Gene Panel Can Reveal Unexpected Clinically Relevant Genes Interview with:

Gregory Idos MD Division of Gastroenterology and Hepatology Keck School of Medicine University of Southern California Los Angeles, CA 90033

Dr. Gregory Idos

Gregory Idos MD
Division of Gastroenterology and Hepatology
Keck School of Medicine
University of Southern California
Los Angeles, CA 90033 What is the background for this study? What are the main findings?

Dr. Idos: Identifying individuals at increased risk for hereditary cancer prompts enhanced cancer surveillance as early detection mitigates disease specific morbidity and mortality. This justifies germ line genetic testing for specific cancer risk alleles. In recent years, the field of cancer genetics has moved from a gene by gene sequencing approach to now having the ability to examine multiple genes concurrently. Multiplex gene panel (MGP) testing allows simultaneous analysis of multiple high- and moderate- penetrance genes. As a result, more pathogenic mutations and variants of uncertain significance (VUS) are discovered. MGP tests are increasingly being used by cancer genetic clinics, but questions remain about the clinical utility and complexities of these tests.

We are conducting a multi center prospective trial to measure the added yield of detecting pathogenic mutations using the MGP approach. In our interim analysis of the first 1000 participants, we found that multiplex gene panel testing increased the yield of detection of pathogenic mutations by 26%. In some cases, we found patient’s who had a mutation in the BRCA gene, but their family history did not indicate a history of breast or ovarian cancer. What should readers take away from your report?

Dr. Idos: In a multi-center diverse cohort, our findings suggest that there is a significant contribution of expanded multiplex gene panel testing with the potential of clinically meaningful outcomes. The identification of unexpected mutations broadens our understanding of cancer risk and genotype-phenotype relationships. I think the study highlights the need for increased awareness and utilization of genetic testing. What recommendations do you have for future research as a result of this study?

Dr. Idos: Our enrollment is still ongoing. In addition to measuring the added yield of results with  multiplex gene panel testing, we are also investigating the safety, efficacy, and cost-effectives of using this strategy. Stay tuned for more from our study. Is there anything else you would like to add?

Dr. Idos: Our study is also presenting data at the ASCO convention in regards to patient perceptions about genetic testing. Our findings will be presented by Allison Kurian in an oral presentation entitled “Safety of Multiplex Gene Testing for Inherited Cancer Risk: Interim Analysis of a Clinical Trial”. Our data shows that patients value the genetic information and there is little evidence of psychosocial harm with multiplex genetic testing. Thank you for your contribution to the community.

Citation: 2016 ASCO Annual Meeting

Yield of multiplex panel testing compared to expert opinion and validated prediction models
J Clin Oncol 34, 2016 (suppl; abstr 1509)
Author(s): Gregory Idos, Allison W. Kurian, Charite Nicolette Ricker, Duveen Sturgeon, Julie Culver, Katrina Lowstuter, Anne-Renee Hartman, Brian Allen, Kerry Kingham, Rachel Koff, Courtney Rowe-Teeter, Nicolette M. Chun, Meredith Mills, Iva Petrovchich, Christine Hong, John Kidd, Kevin McDonnell, Uri Ladabaum, James M. Ford, Stephen B. Gruber; USC Norris Comprehensive Cancer Center, Los Angeles, CA; Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA; Myriad Genetics, Inc., Salt Lake City, UT; Stanford University School of Medicine, Stanford, CA; Keck School of Medicine of USC, Los Angeles, CA

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

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