Information for participants
Thank you to everyone taking part in the 100,000 Genomes Project.
We are very grateful for your participation. It is helping to increase understanding of the genetic causes of rare diseases and cancer.
Frequently Asked Questions
Please inform your GP before you move house so that your records can be easily tracked and your results returned as quickly as possible.
Genomics England will always return results to the healthcare professional who asked you to join the Project. If you have moved since joining, that healthcare professional may either arrange to pass the results on to your new specialist, or arrange for you to go back see them again for the results.
Neither Genomics England nor the hospital where you took part will be able tell you exactly when your results will be back. This is because we have to focus on the work we are doing to return everyone’s results as quickly as possible. We have started returning results, but these need to be checked by NHS labs before they go back to patients. Over time this will become quicker, but things often take longer at the start of a big project like this because everything has to be set up and tested. Results will be returned to people throughout 2017 and 2018.
The Project is sequencing the whole genome of every participant – this lays it all down on file for future reference. So far our analysis of this data has been focusing on your genes – the 23,000 bits of that genome that play an active role in making your body do what it does. We use very sophisticated ‘gene panels’ to compare your genes against the ones that we know are associated with certain medical conditions. Beyond the genes, we have also begun to analyse other variants – this expands how much of your genome that we look at. In the very near future, we will also be able to use new technology to look at more bits between your genes, which will help us to find more answers for you.
When you join this Project, your blood sample is sent to Genomics England alongside information about your clinical features, coded in something called HPO terms (HPO stands for Human Phenotype Ontology – this uses standard terms to describe humans all over the world, so we can compare you and your genome more accurately against other people).
This information is submitted by the clinical team (doctor, nurse or genetic counsellor) who recruited you onto the Project. It gives us clues about which genes to look at first. We also look at your NHS health records for more clues, and these are updated on our system regularly – so if you have developed new symptoms since you signed up for the Project, we should be able to consider them too.
The more clinical information we receive from your clinical team, the better chance we will have of finding answers about your condition. Genomics England makes available the initial analysis data (called ‘tiered variants’) from your genome to your clinical team so they can also review the data themselves if they want to.
Genomics England works with the NHS to analyse your information and reports it back to your local team. It would not be right for us to cut your doctors out of that conversation, to liaise directly with you. Any findings then need to be assessed by the local hospital laboratory before your doctors can feed back to you.
We intend to revisit everybody’s data at least once using the latest information and diagnostic tools in search of an answer for you. There are also thousands of researchers around the world, led by doctors across the UK, who are now working in our database on specific areas of medicine – they may also find answers for you in the future. If they do, we will tell your local doctors. As with all research findings, these then need to be assessed by the local hospital laboratory before your doctors can return any findings.
At the moment, around 20%–25% of participants are receiving an initial diagnosis (1 in 4, or 1 or 5 of families). We will continue to research the 75%–80% of participants who receive an initial result in which no diagnosis has been found (a ‘negative result’). For some people, this is because the gene which has caused their disorder has not yet been discovered. For some people, it may be because the type of genetic variant causing their disorder is complex, or because there is more than one gene causing the problem, and more work needs to be done to find them.
Compared to standard NHS genetic tests, we’ve already been able to find answers for more people. For example, we have used whole genome sequencing to find a diagnosis for nearly 40% of children who are on this Project because of an intellectual disability, compared to an average diagnosis rate of 18% for those using microarray testing in the past. And we will continue to get better at finding answers for you, as technology improves and we all learn more about different parts of your genome really do.
Genomics England owns the data after it has been donated by participants with their generous consent to its use for research purposes.
But in the sense that participants can withdraw their consent to use of their data at any time, it belongs to the participants.
We are keeping all the panels up-to-date used in both the 100,000 Genomes Project and for the NHS Genomic Medicine Service.
PanelApp is being used as the tool to store and collect information about genes and panels for the NHS Genomic Medicine Service (GMS), as well as for continuing analysis in the 100,000 Genomes Project. Some panels being used for the NHS GMS are the same as those used for genome interpretation for participants of the project. Others have been developed afresh for the NHS GMS. This is because the range of disorders which will be available to test in the NHS (outlined in the Test Directory) isn’t quite the same as the disorders that were investigated in the project.
We are reanalysing the whole genomes of participants. We will look at adding new panels to your reanalysis if there have been major changes in your condition. Even if we use the same panels, they will have been updated if there are newly discovered genes. We now have a field called ‘Panel type’ on each panel page within PanelApp, which indicates what the gene panel is for. Panels with ‘GMS…’ in this field will be used for a clinical indication in the NHS Genomic Medicine Service, while panels with ‘Rare Disease 100K’ or ‘Cancer Germline 100k’ are for project participants. Some panels will have both, for example the intellectual disability panel.
The curation team at Genomics England is continuing to support updates to panels for the NHS GMS and in the project. The aim is to use the same expertise and evidence to keep them all updated together. External reviews help with this effort – we encourage experts to add new publications or new genes to panels, and the curation team review the ‘Activity’ page for new reviews each week. You can view the Activity page to see changes we are making.
Genome reanalysis may happen for a number of reasons. Sometimes a researcher or the Genomics England bioinformatics team will find a new diagnosis while analysing particular groups of genomes. Sometimes a person’s medical condition may change and their doctor may want to take another look at their genome data with the new information.
Genomics England is aiming to reanalyse everyone’s genome data once we have returned everyone’s initial result to the NHS. This will mean all participants benefit from the learning that has taken place during the project. At the moment we are still working on getting a preliminary result back to everyone, so the timing of reanalysis for any particular patient is not yet possible to predict.
You can withdraw from the 100,000 Genomes Project at any time, for yourself, your child, or someone you are a consultee for. Please download the appropriate form below, which you should return to the clinical team of the person who is being withdrawn.Download form to withdraw yourself or your child (form 6a) Download form to withdraw as a consultee for someone else (form 6b)
More guidance on withdrawal can be found on each form.
Over 90,000 whole genomes have now been sequenced. We are analysing the genome data together with health data, to help us find the cause of disease. The analysis is complex and takes many months. Find out more about how we analyse a genome.
As soon as your data has been processed we will send the results to your NHS clinical team. They will contact you when they have confirmed our findings.
Results are now beginning to be returned to people who took part in the early part of the Project. But for some, it will still be a year or more before results are returned. For people joining now, it is likely to be a year or more before you hear anything. Results will be returned to people throughout 2018 and 2019. Find out more about results.
The 100,000 Genomes Project is at the cutting edge of science. No-one has ever attempted whole genome sequencing at this scale before as part of everyday care in hospitals. Thank you for your patience while we set up and test all the systems.