Results, or ‘Main findings’


Maddison, 6, and her family who are participants in the Project. Image courtsey of University Hospital Southampton NHS Foundation Trust & Wessex Genomic Medicine Centre

A main finding is one relevant to the condition that led someone to join the Project. These findings are changes, or variants, in a person’s genomic sequence. The changes could be relevant to the

  • explanation
  • diagnosis or
  • treatment of a person’s rare disease or cancer.

Main findings can also be called ‘pertinent’ or primary findings. Receiving feedback for main findings is compulsory for people who take part.

Any main findings will be fed back to the NHS, to confirm the result. A clinician then gives the findings to the participant. They will discuss what the results mean.

Returning results to people taking part

If you are taking part in the 100,000 Genomes Project, see our FAQs page for participants for information about the return of results.

Additional or secondary findings

Participants can decide if we should look for ‘additional findings’ in their genome. These are not related to the cancer or rare disease that led them to take part.

Find out more about additional findings results, and what genes we are looking for, on this dedicated page. 100,000 Genomes Project participant can also use the portal on the dedicated page to check and change their choices for additional findings.