What can participants find out?

Results, or ‘Main findings’

Family

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.

At the moment it takes many months for results to come back. In future, this is likely to get quicker.

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 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.

These are genomic changes that are known to cause serious, life threatening conditions. The changes we look for are in certain genes, and they may cause an increased risk of certain genetic diseases. These diseases can often can be prevented or reduced by NHS treatment. These conditions are quite rare. We expect that about 1 in 100 people who take part will have one of these conditions.

We only look for these changes if a participant wants us to.

Participants can change their mind about whether they want to receive these additional findings at any time. Download the information forms to opt out or opt in to receive additional findings. A clinician can also give participants this form.

The list of additional findings we look for will change over time. This is because new evidence becomes available about the role of the genes in disease. We only feedback information where there is strong scientific evidence that the changes can cause a disease.

Participants who decide to receive additional findings may get results several years later, as new genomic changes get added to the list.

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

Only changes in genes that cause childhood-onset disease will be looked for in child participants. This is in line with BSGM policy on genetic testing of children.

Bowel cancer predisposition:

MLH1 (adult only), MSH2 (adult only), MSH6 (adult only), MUTYH (adult only)

APC (adult and child)

Breast and ovarian cancer predisposition:

BRCA1 (adult only), BRCA2 (adult only)

Other cancer predisposition:

VHL (adult and child), MEN1 (adult and child), RET (adult and child)

Familial hypercholesterolaemia:

LDLR (adult and child), APOB (adult and child), PCSK9 (adult and child)

Carrier status

Some gene changes (or variants) do not affect the individual that has them, but may affect future children. If someone has such a change, they are said to be a ‘carrier’.

We can look for these changes if a participant wants us to. Some conditions only happen if both parents are carriers of the same condition. These results will only be looked for if both members of a couple are taking part in the project and both ask us to look for them.

Some conditions can be carried only by one parent. These conditions will be looked for in any adult who asks for them.

The list of carrier findings will change over time. This is because new evidence becomes available about the role of the genes involved in disease. We’ll only feedback information where there is strong scientific evidence that the changes may cause a disease in future children.

Participants who decide to receive carrier status findings may get results several years later, as new genomic changes get added to the list.

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

Currently, if a participant agrees, we look for changes in the following genes: CFTR (Cystic fibrosis).

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