A universal language.

As in, our DNA. We’ve talked before about screening certain cancer populations who are at particularly high risk for harboring a germline mutation (looking at you, Ashkenazi Jews). But with increasing ease of DNA sequencing, why not offer universal screening to all our cancer patients? That’s exactly what Memorial Sloan-Kettering asked in this week’s JAMA study. Over 1K all-comer advanced cancer patients underwent both tumor and germline sequencing from 2015-2016: 17.5% of germlines harbored actionable mutations, 55% of which would not have been detected per guidelines alone (including over 1 in 5 BRCA and over 2 in 5 mismatch repair pathogenes). What’s more, 82% of mutations had at least moderate penetrance (conferring a relative risk ≥ 2). And these inherited mutations had no assessable correlation with increased tumor mutations. The authors highlight the increased sensitivity both of the method of concurrent tumor and germline sequencing as well as of the universal patient screening tactic. But a word of caution is one word you won’t find in this 5K-word document, even if you crtl+F…"cost."


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