Here's what seems clear from the #ASCO2020 abstracts on tumor-normal (#germline) sequencing of #cancer patients:
(1) A significant minority of cancer patients (5-15%) harbor clinically-actionable variants, such as those indicating PARP inhibition or immunotherapy use.
(2) More patients will benefit if we broaden gene panels. However, it's vital to control for incidental findings and variants of unknown significance (VUSs). This may require highly scalable, space-age variant interpretation that lives on the frontier of clinical research.
(3) Point-of-core tumor-normal testing isn't going to cut it. There are challenges with turnaround time, scalability, clinician education, discordant variant interpretation, and high cost. Germline guesswork from tumor tissue is shaky and likely not the solution to this issue.
We think that comprehensive germline testing should be done for all patients with cancer.
By not including a germline readout, clinicians lose the ability to deploy many targeted therapeutics. This problem will compound over time. Why do we think that?
tinyurl.com/y8rg6w34
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