Evolving Applications of Paired DNA and RNA Sequencing in Clinical Germline Genetic Testing

Wednesday, January 10, 2024

3:00am PST

1 hour

C.E.U.: 1 Category 1 Contact Hour

P.A.C.E.: 1 Unit

Paired DNA and RNA sequencing has been shown to improve the accuracy and yield of genetic testing. But how did we get here? In this presentation, we will review how data published over time has expanded our knowledge base surrounding appropriate interpretation and application of RNA evidence, highlighting an evolution from small case series, to scalable validation, to standardized guidelines. This will include updates to findings reported in previous publications. We will discuss fundamentals of RNA sequencing, including the benefits and limitations of different techniques. You’ll also learn about how to leverage RNA evidence that differs from a priori or in silico predictions of a variant’s impact. Together, this will demonstrate the progress made with regards to clinical applications of RNA sequencing, and opportunities for future directions.

Level of Instruction: Intermediate

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Carrie Horton

Medical Science Liasion – Clinical Research

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 9 years ago. During her time at Ambry, she first took on the role of reporting genetic counselor, performing variant assessment and generating test reports. She has also acted as a Senior Clinical Research Specialist, conducting studies that focus on the translational application of Ambry’s research to solve clinical dilemmas in the oncology setting. In her current role as Medical Science Liaison for Clinical Research, she coordinates multi-disciplinary and multi-institutional initiatives to improve engagement, promotion, and dissemination of key research findings. Ms. Horton’s research interests include improving the clinical utility of and increasing access to genetic testing.

Caitlin Reid

Oncology Genomic Science Liasion

Caitlin Reid, CGC, is a certified Genetic Counselor and Genomic Science Liaison at Ambry Genetics. 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. Caitlin previously worked as an Oncology Genetic Counselor at the University of Iowa in the […]

Caitlin joined Ambry Genetics in 2021 as the Oncology Genomic Science Liaison for the Midwest 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. Caitlin previously worked as an Oncology Genetic Counselor at the University of Iowa in the Holden Comprehensive Cancer center. Caitlin received her Bachelor of Science degree in Biology with a concentration in cell and developmental biology from the University of Iowa. She earned her Master of Science degree in Genetic Counseling from the University of Michigan in 2018 and is certified by the American Board of Genetic Counseling.