Secondary/additional findings in the 100,000 Genomes Project: disease manifestation, impacts on recipients and healthcare utilisation (SAFE).
IRAS project ID: 297591; REC reference: 21/SC/0254; CAG reference: 21/CAG/0160
The 100,000 Genomes Project
The project was established to sequence 100,000 genomes from around 85,000 NHS patients affected by a rare disease, or cancer.
What are additional findings?
Additional findings are changes or 'glitches' in a particular gene that may increase the chance of having certain health conditions. They are called “additional” as they are separate from a family's original reason for joining the 100,000 Genomes Project. Genomics England carefully selected a list of genes in which to look for additional findings. Glitches in these genes can either cause, or increase a person's likelihood of having, a particular health condition.
These glitches are actionable because actions can be taken if the person and their healthcare team know about them.
What is the safe study about?
The SAFE study will use information from the medical records of people who receive an additional finding in the South Central Genomic Medicine Service Alliance (West Midlands, Wessex and Oxford), and interview some of them, to start to understand:
- the link between additional findings (genetics) and health conditions (signs and symptoms)
- how the NHS manages additional findings
- how additional findings impact upon patients
Understanding what happens after people are told about additional findings will contribute to national discussions on how best to use this type of genetic findings to deliver patient-centred care in the future. By doing so, we can help ensure that other families receiving this type of news in the future are receiving the highest quality care based on evidence.
Meet the safe study team
Dr Liz Ormondroyd, Principal Investigator
Dr James Buchanan, Senior Researcher
Joshua Nolan, Research Assistant
THE SAFE STUDY and your data
Participation in the 100,000 Genomes Project allows Genomics England to collect some information from participants’ medical record and put it in a patient data library (“research environment”). This information does not identify people individually. However, the information needed for this study may not all be collected in the patient data library, and it may take a significant amount of time to be collected and available. For these reasons, we would like to access participant medical records to ensure we are collecting the right medical information and doing so in a time frame that allows this research to be used to contribute to improving future patient care.
Information security is paramount to us. We will not store or copy any identifiable information. The three researchers who will access your medical records have been vetted by the NHS, and they will do so only to ensure they relate to the right person; the researchers will store only de-identified information on secure NHS servers.
Please see the full Patient Notification Document and Privacy Notice.
Opting out of SAFE
If you are:
- a participant in 100,000 Genomes Project, and
- were recruited in the West Midlands, Wessex and Oxford, and
- have discussed an additional finding with your care team, and
- you do not wish for us to access the information in your medical record for this research
you can opt out at any time. If you opt out of your information being used for the SAFE study, this will not impact the clinical care you receive, and you would stay in the 100,000 Genomes Project.
To opt out of your information being accessed for SAFE, please fill in this form - you’ll be asked to input your NHS number (this is a 10-digit number which can be found on hospital letters) and tick the opt-out box.
Alternatively, you can opt out by calling 01865 226 017. We will only ask you to provide your NHS number. You do not have to provide a reason for your decision to opt out.
If you have any questions, we will be happy to discuss further on 01865 226 017.
If you are not a participant in 100,000 Genomes Project, or you were recruited through another centre (other than West Midlands, Wessex and Oxford), or you have not discussed an additional finding with your care team, your data will not be used in this research.