How do I get involved?
Clinicians in the NHS Trusts in the South London GMC will invite patients under their care to join the Project, because they have either a (suspected) rare inherited disorder or certain forms of (suspected) cancer.
In the case of inherited rare diseases, the patient and both biological parents will be asked to take part; where this is not possible then two first-degree relatives will be recruited. In the case of suspected cancers, the individual patient will be invited to take part before they have had any chemotherapy or radiotherapy.
If you are interested in taking part, and live in South London, Kent, Surrey or Sussex, in the first instance contact your clinician and ask them to discuss the Project with you. If they think you may be suitable they will refer you to one of the four Trusts within our GMC.
In each case the clinician, or a recruiting nurse, will carefully explain the Project to you, how your information will be used and what feedback you can expect. They will then ask you to consent formally to take part.
What happens after that?
If you agree to take part we will ask you to donate small samples of blood or tissue in order to extract your DNA, which will then be sent to Genomics England for whole genome sequencing. If you are a patient with a suspected rare disease we will only require a sample of your blood. If you are a patient with a suspected cancer we will require a sample of your blood as well as a sample of your tumour, taken during either a biopsy or surgery. Where blood is taken we only collect about 20 ml – approximately four teaspoons.
The samples are collected according to strict protocols determined by NHS England and are only processed in accredited laboratories. We take great care to make sure that your samples and the information that goes with them are managed very carefully and in a way that maintains your confidentiality.
Once your DNA has been sequenced, the data generated will be put into a secure central database where it will be able to be accessed by accredited researchers. You will also receive, through your clinician, a report that presents the findings of the sequencing. At the moment it takes many months for results to come back but in future this will get quicker.
The report will cover ‘main findings’ which are relevant to the condition in question. 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. Any main findings will be fed back to the NHS, to confirm the result. A clinician then gives the findings to the participant and they will discuss with them what the results mean. Receiving feedback for main findings is compulsory for people who take part.
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. 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.
More details about how the Project works are provided on the Genomics England website.