Clinical OMICS

MAY-JUN 2017

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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www.clinicalomics.com May/June 2017 Clinical OMICs 15 The Growing Role of Genetic Testing in Breast Cancer Care Knowledge surrounding the contri- bution hereditary risk factors make to cancer development and progression has grown substantially over the past decade and, with the decreased cost of genetic sequencing, so has the number and availability of different hereditary risk panels. A big challenge facing the industry now is a shortage of genetic counselors and a lack of physician education about available tests and how to interpret their results. Only one-third of genetic counselors in the U.S. focus on oncology, and phy- sicians or patients fortunate enough to have access to a genetic counselor may have to wait weeks, or months, for an appointment. "That's too long to make a clinical decision with a patient with a proven breast cancer," argued Rakesh Patel, M.D., chair of breast cancer ser- vices at Good Samaritan Hospital and co-founder of TME Research. TME Research partnered with genetic information company Invi- tae to test whether implementing a telemedicine-based model to increase access to genetic counselors affected patient care. After referring a breast cancer patient for testing, physicians were offered access to board-certified genetic counselors employed by Invi- tae to discuss test selection and clinical decisions post test via email, Skype, or phone. The study revealed that consulting with a genetic counselor changed the physicians test selection 21% of the time, and post-test coun- seling changed patient care—ranging from recommending family member screening to altering surgical proce- dures—15% of the time. The 250-patient study did not discriminate between women who met NCCN guidelines (65%) for genetic testing and those that did not (35%), which allowed a compar- ison of pathogenic muta- tion rates between the two groups. Researchers found almost equivalent rates of clinically-action- able mutations between women who met guidelines (12.7%) and women who did not (11.3%). Chief Medical Officer of Invitae, Robert Nussbaum, M.D., said these results demonstrate that, "The guidelines are simply too strict and too narrow, and [they] are depriving people of genetic testing that they need." Invitae and TME Research have already launched a large-scale, 1,000-patient study called the Univer- sal Breast Cancer Genetic Registry to examine the prevalence and clinical associations of gene alterations in a broader array of patients with a per- sonal breast cancer history.—Meghaan Ferreira tion oncology. Dr. Olivier Elemento, the Walter B. Wriston Research Scholar, will lead the initiative, which will involve joint work with physician-scientists at the Caryl and Israel Englander Institute for Precision Medicine and the Sandra and Edward Meyer Cancer Center at Weill Cornell Medicine. Rady Children's Institute for Genomic Medicine Ups its Data Game Rady Children's Institute for Genomics (RCIGM) recently upgraded its whole genome data analysis backbone with the intent of expanding the platform to partners across the country to continue building a database that can improve the diagnosis of rare disease in children. DNAnexus provided the platform for local and distributed sequencing and analysis, which enables the end-to- end rapid whole genome solution. At RCIGM, the platform is also being used to securely bank genomic data, work with collaborators, and integrate with the Institute's custom portal and big-data platform The work is part of a National Institute of Health (NIH) research pro- gram led by Stephen Kingsmore, M.D., president and CEO of RCIGM. "Our goal is to ensure that genome- powered precision medicine is available to every child who needs it. To do this, building a research-to-bedside pipeline at a single hospital isn't enough. We needed a solution that can be scaled up and is accessible anywhere in the world," said Dr. Kingsmore. n A typical counseling session to assess cancer risk based on family history. metinkiyak / Getty Images (continued from previous page) TME Research

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