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The latest genomics research — in plain English, ready to log as CPD.

Genomics moves fast and the papers are dense. We read the important ones and turn them into short, clear summaries you can actually use — and count toward your professional development.

A new digest each week. Written for busy clinicians, scientists and lab professionals.

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What 2,023 whole genomes reveal about bowel cancer

Digested from Nature 2024 · DOI 10.1038/s41586-024-07747-9 (via PubMed, CC BY 4.0)

The UK's 100,000 Genomes Project sequenced the entire genome of more than 2,000 bowel cancers — the most detailed genetic picture of this common cancer so far. Reading the whole genome, rather than a handful of known genes, changed the map.

What they found:

  • 250+ genes involved in bowel cancer, many never linked to it before.
  • Four new subgroups of the common type, each predicting outcomes differently.
  • Signals pointing to diet and smoking — and a gut-bacterium toxin tied to rectal cancers.
  • Many changes are “actionable” — a targeted drug may work against them.

Why it matters: it's the clearest sign yet that whole-genome sequencing adds real value over today's targeted tests — better prognosis, more treatment options, and clues to what causes the disease. (It's a landscape study, not a trial: “actionable” means promising, not proven.)

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