FAQs

Genomics England, with the consent of participants and the support of the public, is creating a lasting legacy for patients, the NHS and the UK economy, through the sequencing of 100,000 genomes by 2019. It has four main aims:

  • to bring benefit to patients
  • to create an ethical and transparent programme based on consent
  • to enable new scientific discovery and medical insights
  • to kickstart the development of a UK genomics industry

The project is focusing on patients with a rare disease and their families, as well as patients with certain common cancers (breast, bowel, ovarian, prostate, or lung). We will also be recruiting patients with chronic lymphocytic leukaemia (CLL) in collaboration with existing clinical trials.

NHS England and the 13 NHS Genomic Medicine Centres are important delivery partners for Genomics England. We are working in collaboration to ensure not only that this landmark project succeeds, but that when the project concludes in 2019 there is a sufficiently robust genomics infrastructure in place to enable genomic medicine to be carried out routinely in the NHS. Specifically, NHS clinicians and healthcare teams working in NHS Genomic Medicine Centres will identify, enrol and register suitable patients (and members of their family in the case of rare disease patients); be responsible for taking informed consent; capturing clinical information; ensuring there is an adequate supply of samples and feeding back results to participants. Clinicians and the GMCs will be important partners within the Genomics England Clinical Interpretation Partnership (GeCIP) to help us learn how to interpret genomic data in a clinical context and embed that learning within the NHS.

The 100,000 Genomes Project is not simply a research project. It is a transformation project using genomic medicine to change how NHS patients are treated. It is also a new way of caring for patients. To sequence 100,000 genomes over four years is immensely ambitious and has never been done on this scale anywhere in the world before. Genomics England is working within the UK healthcare system. This is to ensure the project will leave a legacy of world class genomic medicine for patients benefit. This means training healthcare staff in new skills and changing our practices to maximise our ability to use this technology. We are also leaving an infrastructure in place to handle DNA samples and clinical data required for whole genome sequencing.

No. This is a common misconception but it’s 100,000 human genomes, not patients. Every cancer patient will contribute two genomes for comparison (one from a healthy cell, one from their cancer). Three genomes will come with every rare disease participant for comparison (one from the affected person and two more from close blood relatives where available). Assuming half of the genomes will come from cancer and half from rare disease, the figures work out roughly like this: Cancer = 50,000 genomes – 25,000 patients Rare disease = 50,000 genomes – 15,000 patients and 35,000 healthy relatives So about 75,000 people in total, 40,000 of which will be patients.

Reading along DNA to determine the order of every base pair, letter by letter.

The number was chosen based on experience from other studies like the UK10K programme. As the cost of sequencing fell and the knowledge about rare variants increased it was decided that 100,000 genomes would be the right balance between cost and benefit for NHS patients to build a clinical and research legacy.

There are more than 8,000 rare diseases so unfortunately not all of these can be included in the project. However, over 135 rare diseases and more than 20 different tumour groups have been included in the eligibility criteria for the project.

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 joined the Project, your blood sample was 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).

That information gives GEL clues about which genes to look at first. They were also provided your NHS health records for more clues, and these are updated on their system regularly – so if you have developed new symptoms since you signed up for the Project, we should be able to consider them too.

Recruitment for the 100,000 Genomes Project has been completed and so we are no longer inviting people to participate. In the future, we hope to take what we have learnt from running the project and make genomic sequencing a regular, routine option your healthcare professional has at their disposal.

Your referring clinician will give you an explanation of any ‘main findings’ which are relevant to your cancer or rare disease. For some patients, a particular treatment may be suggested based on their results, but in most cases this won’t happen. However, we will continue to work on your data and feed back to you for as long as you remain in the project. Even if your results do not contain any information that is considered to be medically relevant, your participation in the 100,000 Genomes Project will still be vital in helping the treatment of future patients with similar conditions. During recruitment, you will also have made a decision about receiving ‘additional findings’. These are findings which are not related to the cancer or rare disease that led you to take part in the project. Additional findings are changes in your genes that are known to cause other conditions which can often be prevented or helped by NHS treatment. We only look for these changes if you want us to, and return of the main findings will be prioritised.

During recruitment, we initially forecast between 18 and 24 months. It has sometimes taken longer than this for results to be ready. This is because we need to make sure that the results you are provided are absolutely correct and the relevance of those results properly understood. Rest assured that when your results are ready, you will receive them.

We are receiving more results back from Genomics England all the time. Our labs then need to analyse these results and determine their importance. Once this has been agreed upon and the best plan going forward has been determined, your referring consultant will be in touch. Patients have received the results of their main findings on both branches of the project.

Additional findings and reproductive findings were an optional extra for participants, to be tested for known genes that can indicate risk of certain diseases in adulthood and influence reproductive choices. These are classed as secondary findings and will be distributed after all primary findings have been released. The work on secondary findings has not yet begun and unfortunately there is no time frame for when these secondary findings will reach patients. We are sorry for any inconvenience caused. Once we receive an update on timings we will update this on the website.

This is not a problem at all. Please be reassured that you can withdraw from the Project at any time. This will not affect your NHS care in any way. Please ask your hospital doctor and your clinical care team about this.

In some circumstances, we might be in touch asking for an additional sample. This will usually be in order to run confirmatory tests. You are under no obligation to provide this additional sample.

If you or your child was younger than 16 at the time of recruitment, the consent form used reflected this. In order to remain involved in the project, this will need to be updated. ‘Reconsent’ doesn’t require another appointment at the hospital, but instead can be done over the phone. Our recruitment team will be in touch as and when this becomes relevant, but if you have any concerns, please don’t hesitate to get in touch.

Please inform us before you move house so that your records can be easily tracked and your results returned as quickly as possible.

If you have moved since joining, we may either arrange to pass the results on to your new specialist, or arrange for you to go back see us again for the results.

GEL 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 the database on specific areas of medicine – they may also find answers for you in the future. If they do, GEL will inform us accordingly. As with all research findings, these then need to be assessed locally before we 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.

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