Solving Missing Heritability in Familial Adenomatous Polyposis Patients Using Paired DNA-RNA Testing with Colin Young, PhD

• Up to 10% of familial adenomatous polyposis (FAP) patients and as high as 50% of attenuated FAP patients have not had a casual pathogenic variant identified in the APC gene. The identification of a causal variant can inform both patient treatment and guide reproductive decisions for future family planning. This presentation will discuss missing heritability for individuals with FAP and discuss how the use of concurrent germline DNA testing with RNA transcript analysis can be used to identify previously unidentified alterations in the deep intronic regions of APC in patients with FAP.

  Level of Instruction: Basic

  

  Only the live session qualifies for CEUs but when possible, we host the recordings on our website and NSGC recommends participants to use their personal email instead of work email addresses to ensure they receive their CEU certificates.

  

  Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Program.

Colin Young, PhD | Presenter

Variant Assessment Scientist

Colin Young graduated with his bachelor’s degree in chemical engineering from the University of Utah in 2012. For graduate school, Colin stayed at the University of Utah where his graduate studies were focused on the use of protein-based immunoassays for the detection of disease biomarkers from patient blood or saliva samples. After receiving his PhD in 2018, Colin joined Sean Tavtigian’s laboratory at the Huntsman Cancer Institute where he designed protein functional studies for use in variant interpretation and performed meta-analyses on case-control data for evaluating protein in silico evidence strength within the ACMG framework. Colin joined Ambry Genetics as a Variant Assessment Scientist in late 2019 and he is a member of the ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel. Colin is based in Salt Lake City, where he enjoys hiking, playing soccer, and recovering his rapidly decaying body from hiking and playing soccer.

Sarah Campian, MS, CGC | Moderator

Genomic Science Liaison, Ambry Genetics

Sarah Campian joined Ambry Genetics in 2018 after working for 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, working with genetic counselors and other healthcare professionals ordering covering Michigan, Ohio, and Indiana territories. In addition to providing education and clinical support for healthcare providers, she coordinates Case Café, a national educational genetics case conference webinar series and is a lead regional field trainer at Ambry. 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.