100,000 Genomes Project
In late 2012 then Prime Minister David Cameron announced the 100,000 Genomes Project. The plan was to sequence 100,000 whole genomes from NHS patients with the aim of providing them with a diagnosis or a better treatment. This was something that had never been attempted anywhere in the world.
The Project focused on patients with a rare disease and their families and patients with cancer. Recruitment was completed in 2018 with the 100,000th genome sequenced in December 2018. In the end the Project exceeded expectations by sequencing more than 100,000 genomes.
The legacy of the 100,000 Genomes Project is the new NHS Genomic Medicine Service. By building on the skills and lessons learnt from the 100,000 Genomes Project whole genome sequencing will be available to a much wider range of patients through the NHS.
Families with a rare disease
recruited in our region
Cancer patients recruited
in our region
Rare Disease and Cancer results
reported back to clinicians
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.
If you require any further information or help, please contact the South London GMC project team: genetics100k@gstt.nhs.uk
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.
Further information for 100,000 Genomes Participants can be found on the Genomics England website where they have a dedicated section on the project, including FAQs and information about participant data.
We are sorry for the significant delay in receiving your 100,000 Genomes Project results. We are aware that many families have waited much longer than the expected 18-24 months to receive results. We are sorry that we have not been able to keep all families up to date with the delay. Every family is important to us and we are working hard to try and get your results to you as quickly as possible. The primary findings have been prioritised to ensure every family receives their main results as soon as possible.
When you donated your samples to the Project they were sent to Genomics England for sequencing and analysis before being returned to us here at the South London GMC for further analysis and reporting. For more information on all the stages that your family’s samples go through from recruitment to report, please visit this link to Genomics England’s ‘results journey’ process: www.genomicsengland.co.uk/information-for-participants/results-the-journey/
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.
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 can change their mind about whether they want to receive these additional findings at any time.
For more information on the genes looked for as part of additional findings and to check whether or not you agreed to receive this information please visit the Genomics England website.
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.
Withdrawal forms:
- Withdrawal information and form – for adult or child participants (6a)
- Consultee declaration of advice regarding adult participant withdrawal information – for consultees (withdrawal) (6b)
Opting in/out forms for additional findings:
Further information on the 100,000 Genomes Project can be found on the Genomics England website.
If you have any queries about the Project please feel free to contact the South London GMC project team via email at Genetics100k@gstt.nhs.uk.