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The Benefits of adding RNA-seq in Clinical Genetic Testing

Thursday, September 9, 2021
4:00am PDT
1 hour
C.E.U.: 1 Category 1 Contact Hour
P.A.C.E.: 1 Unit

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

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Rachid Karam
Rachid Karam, PhD
Director, R&D – Clinical and Translational Research, Ambry Genetics
Dr. Rachid Karam is passionate about bridging cutting-edge technologies to improve patient outcomes, making him an ideal fit for his role as Vice President of Research & Development at Ambry Genetics. In this position, Dr. Karam has spearheaded initiatives to improve the diagnostic yield of DNA tests, including integrating RNA sequencing into clinical genetic testing. […]

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.

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Brooke Overstreet
Genomic Science Liaison, Ambry Genetics
Brooke Overstreet earned her M.S. in Genetic Counseling at the University of Cincinnati and also holds an M.S. in Molecular and Cellular Biology from the University of Arizona. Prior to becoming a genetic specialist at Ambry, she worked as a clinical genetic counselor at Mayo Clinic in Arizona and counseled patients for oncology, neurology, cardiology […]

Brooke Overstreet earned her M.S. in Genetic Counseling at the University of Cincinnati and also holds an M.S. in Molecular and Cellular Biology from the University of Arizona. Prior to becoming a genomic science liaison at Ambry, she worked as a clinical genetic counselor at Mayo Clinic in Arizona and counseled patients for oncology, neurology, cardiology and healthy exome. Mrs. Overstreet is a member of the National Society of Genetic Counselors (NSGC) and is board certified by the American Board of Genetic Counseling (ABGC).

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Carrie Horton
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 […]

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.

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Sarah Campian
Genomic Science Liaison, Ambry Genetics
Sarah Campian joined Ambry Genetics in 2018 after four years as a clinical cancer genetic counselor at the Grosfeld Cancer Genetics Center at Beaumont Health in Royal Oak, Michigan. She is a Senior Genomic Science Liaison, supporting Ambry’s oncology and reproductive health product lines. In her role, Sarah provides clinical support and education to healthcare […]

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.