The Benefits of adding RNA-seq in Clinical Genetic Testing with Rachid Karam, MD, PhD and Carrie Horton, MS, CGC

There are both technical and logistical limitations that hinder the identification of individuals at-risk for hereditary cancer, resulting in many patients who undergo DNA genetic testing going undiagnosed. In this webinar we will review splicing data obtained from a cohort of 43,000 individuals tested for cancer predisposition and demonstrate how RNA sequencing improves the diagnostic yield of genetic testing. Specifically, splicing profile performed in this large clinical cohort led to the detection of novel cryptic alterations in tumor suppressor genes of patients who otherwise would have a negative or inconclusive result.

Level of Instruction: Intermediate

Rachid Karam, MD, PhD | Presenter

Director, R&D - Clinical and Translational Research, Ambry Genetics

Rachid Karam obtained his M.D. in 2003, in Brazil, and his Ph.D. in Oncogenetics in 2008, at the University of Porto, Portugal. He did his postdoctoral studies at the University of California, San Diego (UCSD) from 2009 to 2014. He joined Ambry Genetics in 2014, and is now Ambry’s Director of Clinical and Translational Research. He also actively participates in several NIH/ClinGen committees dedicated to creating guidelines for the interpretation of genetic testing and is currently the Co-Chair of the CDH1 ClinGen expert panel.

Carrie Horton, MS, CGC | Presenter

Sr. Clinical Research Specialist - Oncology, Ambry Genetics

Ms. Horton received her M.S. in Genetic Counseling from Arcadia University and practiced clinically as a cancer genetic counselor in Memphis, TN prior to joining Ambry Genetics 6 years ago. As a reporting genetic counselor at Ambry, she performed variant assessment, generated reports for oncology tests, and curated clinical literature for report content. In her current role as Sr. Clinical Research Specialist, she designs and conducts studies focusing on the translational application of Ambry's research. Ms. Horton's research interests include improving the clinical utility of and increasing access to genetic testing.

Sarah Campian, MS, CGC | Moderator

Genomic Science Liaison, Ambry Genetics

Sarah Campian joined Ambry Genetics in 2018 as the Oncology Genetic Specialist for the Great Lakes territory. She previously worked as a clinical genetic counselor at the Grosfeld Cancer Genetics Center at Beaumont Health. Her research interests include Lynch syndrome and identification of gene mutation carriers in minority populations. Sarah received her Bachelors of Science degree in Biology from Saginaw Valley State University. She earned her Masters of Science degree in Genetic Counseling from Wayne State University and is certified by the American Board of Genetic Counseling.