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Improving Hereditary Cancer Diagnostics Using RNA Sequencing: Lessons from CDH1

Thursday, May 26, 2022
4:00am PDT
1 hour
C.E.U.: 1 Category 1 Contact Hour
P.A.C.E.: 1 Unit

CDH1-related Diffuse Gastric and Lobular Breast Cancer Syndrome (DGLBCS) is a challenging disease for patients, medical providers, and laboratories alike. In this webinar, Dr. Karam will present current evidence describing phenotype and cancer risk estimation among families with CDH1 pathogenic variants, and will discuss the updated recommendations from the ClinGen CDH1 Variant Curation Expert Panel. Finally, illustrative cases will be presented to demonstrate improvements in the detection of CDH1 variants using RNA sequencing.

Level of Instruction: Intermediate

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Rachid Karam
Rachid Karam, PhD
Director of 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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Whitley Hatton, MS
Genomic Science Liaison, Ambry Genetics
Whitley joined Ambry Genetics in 2020 as the Oncology Genomic Science Liaison for the mid-Atlantic territory. In her current role, she serves as a clinical liaison for the field team to educate health care providers and key opinion leaders on genetic testing and genomic medicine. Whitley previously worked at the Tulane Cancer Center as a […]

Whitley joined Ambry Genetics in 2020 as the Oncology Genomic Science Liaison for the mid-Atlantic territory. In her current role, she serves as a clinical liaison for the field team to educate health care providers and key opinion leaders on genetic testing and genomic medicine. Whitley previously worked at the Tulane Cancer Center as a medical genetic research analyst, helping to increase genetic testing in prostate, kidney, and other cancer patients within the genitourinary clinic. Her most recent research studies investigated family history and germline alterations in metastatic prostate cancer patients and outcomes with first-Line PD-1/PD-L1 inhibitor monotherapy for metastatic renal cell carcinoma, both of which were presented at ASCO-GU. Whitley received her Bachelor of Science degree in Biology with a concentration in genetics at Howard University. She earned her Master of Science degree in Medical Genetics at Tulane University in 2019