Advances in Genetic Testing for Hereditary Cancers

If you missed our final webinar of the year, or would like to revisit the discussion, the full session is now available on demand for CGA-IGC members. Not yet a member? Join here.

This webinar featured Colin Pritchard, MD, PhD, Angela Jacobson, MS, CGC, and Tomas Walsh, PhD, from the University of Washington, who shared exciting updates on advances in genetic testing for hereditary cancers.

Dr. Colin Pritchard began by discussing approaches to polyposis evaluation in patients with negative germline testing, including when to consider polyp testing and how mosaicism testing fits into clinical workflows. He presented findings from mosaicism testing performed at the University of Washington and highlighted the clinical implications for patients and their families. Angela Jacobson illustrated these points with a case example in which mosaic testing helped solve a challenging case of Peutz-Jeghers syndrome.

Next, Dr. Tomas Walsh and Angela Jacobson explored the use of long-read DNA and RNA sequencing. They explained how this technology is implemented in the lab, the genes currently tested using long-read methods, and shared real-world examples where long-read sequencing helped resolve previously unsolved hereditary cancer cases and reclassify variants of uncertain significance.

This session offered valuable insights into emerging technologies that are helping to close the gap in unsolved hereditary cancer cases.

Many thanks to our outstanding speakers and moderator for sharing their expertise, and to everyone who joined the discussion. We look forward to seeing you at the next CGA-IGC webinar in 2026!

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Our webinars are a valuable member benefit, and we encourage you to sign up as a member so you can join the live webinars and access our earlier webinar series on demand!

You might also like to explore our podcasts. The CGA-IGC Research Collaboration series or others from the CGA-IGC Podcast Series (Seasons 3, 4, 5, 6 & 7) presented by the CGA-IGC Education Committee. Or, explore our Expert Approach to Hereditary Gastrointestinal Cancers podcast series (Seasons 1 and 2).

We're also on Spotify!

Also, looking for other educational resources? Toolkits? Journal scans?

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