- 100,000 Genomes Project
- Resources for patients
- How to get involved
Most people have heard of genetics in relation to healthcare. Genetics is the study of genes and their roles in inheritance – the way certain traits or conditions are passed down in genes from one generation to the next. In healthcare, genetics has typically focused on variations in a single gene when determining the cause of a health condition.
Genomics is an all-encompassing term that takes into account all the DNA in a person’s or organism’s genome – both the genes that code for proteins and those that do not, the non-coding regions. Genes account for just 1-5% of our complete set of genomic information, our genome. Genomics looks at how genes are expressed and the interplay between different genes.
Genetic testing involves the investigation of a single piece of genetic information for specific bits of DNA that have a known function. Through this, scientists can isolate the underlying causes of the specific genetic variant in question. Genomic testing involves the investigation of larger sections of genetic material and information. It's scope is broader and without a specific target.
Your healthcare professional may order a genomic test for several different reasons:
Diagnostic testing – to confirm a diagnosis of a particular cancer or rare disease
- when you display relative symptoms – ‘clinical presentation’
- a yes/no test
- can be used to confirm an initial diagnosis or alternatively to rule out a possible cause of the symptoms
Clinical predictive testing – to assess your risks of developing a genetic condition and to guide preventative care
- before you display any symptoms
- usually when a family member has been diagnosed with a genetic condition
- for a gene that is associated with a condition that is ‘actionable’ – it can be treated or the risk can be reduced with lifestyle changes and/or regular screening
- for a condition that is not actionable but is sufficiently severe that you may want to know about it before making major life decision (such as starting a family)
Pharmacogenetic testing – to test how your genome affects your response to medication
- can include whether a particular medicine will be effective or ineffective, and how likely the medicine is to cause particular side-effects
Tumour testing – to identify gene mutations present in the tumour cells that are either actionable (meaning targeted treatment can be offered), or warrant further study
- comparing the genomes of a patient’s tumour cells with those of the patient’s healthy cells can also help in identifying genes that are actionable in other ways, e.g. identify new research targets such as genes that are seen to be ‘driving’ cancers to develop and spread
Genomic testing usually requires samples of your blood, saliva or tissue. The DNA is extracted from these samples and sequenced at your local Genomic Laboratory Hub, where specific areas or all of your genome is then analysed.
Depending on what the test is for, results may take days, weeks or sometimes months to be reviewed and finalised and fed back to you. You may also be referred for genetic counselling depending on the results.
We inherit half of our DNA from our mother and half from our father. There are different ways that genetic conditions can be inherited (passed down) in a family. Sometimes a child only needs to inherit one copy of a gene variant to have a condition or increased risk for a condition. This is known as dominant inheritance. Other conditions such as cystic fibrosis (CF) are recessive. If both parents carry a variant, there is a 25 out of 100 (25%) chance for a child to have CF. There are also other forms of inheritance such as X-linked. Sometimes the genetic variant is new in a child and is not present in either parent.
Genomic tests can help to understand what variants are present, and then the clinical and scientific teams work together to understand what the variant means for a person and their family.
100,000 Genomes Project
Rare Disease patients
and their families 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:
Phone: (+44) 020 7188 1383
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
- 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.
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.
Resources for patients
When your clinician discuses genomic testing as part of your care, you will also be asked if you want to donate your sample, genome sequence and health data for research. If you agree to take part, your samples will be stored securely and your data will be added to the National Genomic Research Library – a secure national database of de-identified genomic and health data managed by Genomics England. Approved researchers can use the samples and data to study diseases and look for new treatments. Their research might help you and others now or in the future.
Other websites that may be informative:
100,000 Genomes Project
- Withdrawal forms –
- 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 Genomic team via our online Contact form.
How can you get involved?
There are several ways that patients, family members and the public can get involved with the London South Genomic service. These include:
- Joining our Patient and Public Involvement (PPI) group
- Becoming one of our Genomic Patient Ambassadors
- Sending us feedback via our Contact form
Patient and Public Involvement (PPI) group
Anyone can sign up to join the Patient and Public Involvement group! People from all backgrounds and all abilities are very welcome.
The PPI group will play an important role in the provision of the new genomics service and ensure the interests of patients are always at the centre. Members will help guide the planning of the new service and how genomic medicine is used in the NHS in the future.
The group will communicate regularly via email and we hope meet several times a year. Those who are unable to join meetings in person can join by telephone or video conferencing. There are likely to be documents to read and consider before and after meetings. Documents and paperwork will usually be sent by email, though post can be arranged. Other tasks would involve reviewing web pages such as this and identifying what information and events matter to patients.
We would hope for our PPI group to shape their own work and responsibilities. However much or little time you can spare, your involvement will be valued.
Please email us or use our contact form if you are interested in joining the PPI Group. In your message, it would be great if you could briefly outline why you are interested in getting involved. Please also include if you are involved in the 100,000 Genomes Project. Don’t forget to include your name and contact details!
Genomic Patient Ambassadors
The role of the Genomic Patient Ambassador will be to represent the wider PPI group, playing a leading role in working with the GLH leads to influence the development of the new service. There are likely to be meetings to attend either in person or video conferencing and the ambassador would be expected to contribute their ideas and experience.
As with the PPI group, we would hope for our Genomic Patient Ambassadors to actively shape their own work and responsibilities.
The Genomic Patient Ambassador will play a key role in the provision of the new genomics service and ensure the interests of patients are always at the centre. Ambassadors will act as representatives of the wider PPI group and work closely with the GLH Leads and other staff to plan the new service and how genomic medicine is used in the NHS in the future.
Please email us or use our contact form if you are interested in becoming a Patient Ambassador. In your message, it would be great if you could outline why you are interested in this role. Please also include if you are involved in the 100,000 Genomes Project. Don’t forget to include your name and contact details!