Test results from the 100,000 Genomes Project will continue to be delivered to participants until March 2020.

Participants of the 100,000 Genomes Project are able to track their sample online using the Genomics England “Track My Sample” service. However, please note that once sequencing and the initial analysis at Genomics England has been completed, the results still need to be confirmed back at their GMC and reported to the healthcare professional who referred you to the project. Neither Genomics England nor the hospital where you took part will be able tell you exactly when your results will be back.

Your referring healthcare professional (such as your GP or specialist) will let you know when they have received the report. You will be contacted about your test results just as you would be for any other test results – usually by letter or phone.

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. Any main findings will be fed back to the NHS clinical team to confirm the result. The referring health professional will then give the results to the participant.

According to Genomics England, an estimated quarter of participants with a rare disease could receive a diagnosis in their results, and approximately half of participants with cancer are projected to receive information that could open up possibilities for clinical trials or targeted therapies.

This also means for many participants, no clear answer will be found at first. Your clinical team will tell you if nothing has been found. This is just the initial analysis though. 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 anything in the future that could be important for your, or your family’s, health.

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

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.

Additional findings will be returned later, separately to any findings related to a participant’s main condition. Participants who decide to receive additional findings may get results several years later, as new genomic changes get added to the list.

Participants can change their mind about whether they want to receive these additional findings at any time. Participants can contact their referring clinical team or the GMC that they were recruited, at any time to either opt in or opt out to receive additional findings. Forms can be found in our Patient Resources.

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.

Any participant who was initially consented to the project below the age of 16, will be contacted once they turn 16 to confirm whether they would like to remain in the project or not. If the patient would like to continue on the project as an adult, a consent conversation would need to take place again to sign a new consent form. This can be done either by telephone or via a clinic appointment.

Any participants that do not have capacity to sign for themselves, a consultee/parent will be able to make this decision and sign the form on their behalf.