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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

What are additional findings?

As part of participants’ consent for the 100,000 Genomes Project, they were asked if they wanted us to look for additional health information in their genome sequence; we call these ‘additional findings’.

We and the NHS are now in the process of returning additional findings results to our participants.

Additional findings conditions and genes

The following conditions will be looked for as part of the additional findings analysis:

Adults only

Adults and children


Download a copy of the information housed above on the conditions and genes looked for in additional findings.

Checking your choice for additional findings analysis

Participants now have the opportunity to check whether they have consented to receiving additional findings results, and to let us know if they've changed their minds in the 'Check My Choices' portal. The portal is managed by Genomics England and is secure.

If you’ve forgotten whether you asked for additional findings or not, you can use the portal to see what you agreed.

Use the 'Check My Choices' portal

Trouble with the portal?

If you are not able to use the portal, you can also contact the Genomics England Service Desk to check or change your choice.

Contact Service Desk


This section will be regularly updated.

More information about the conditions

For more information about each of the conditions we look for in our additional findings analysis, please visit the following links to charities and organisations specialising in those conditions:

Lynch syndrome and bowel cancer

Breast and ovarian cancer

Von Hippel-Landau disease

Familial medullary thyroid cancer

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