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100,000 Genomes Project

Genomics England's very first initiative – sequencing 100,000 genomes from around 85,000 NHS patients affected by rare disease or cancer – is leading to groundbreaking insights and continued findings into the role genomics can play in healthcare.

Colourful rendering of DNA data sequence

Getting your results

As soon as your data has been analysed, the results are sent back to your clinical team in the NHS.

As of December 2021, all analyses have been completed at Genomics England and returned to your NHS healthcare team.

They will contact you when they have confirmed our findings. They contact you as they would for any other test results – usually by letter or phone.

What if no likely cause is found?

In many cases, no clear answer will be found at first. Your clinical team in the NHS will tell you if nothing has been found. But researchers will keep looking.

Your data will also go into a research database. As our knowledge grows, researchers will continue to analyse your data. We will let your clinical team know if we find any new results in the future that could be important for your, or your family’s, health.

Types of findings

Main findings

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

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 using the button below. 100,000 Genomes Project participant can also use the portal on the dedicated page to check and change their choices for additional findings.

Frequently asked questions

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