How your data is used

We get data from many places. The main ones are:

NHS Digital

• Hospital Episode Statistics (HES) These come from all NHS trusts in England, including acute hospitals, primary care trusts and mental health trusts. This data is collected during a patient’s time at hospital. It includes details of diagnosis, treatment received and other details about the patient. HES information is stored as a large collection of separate records – one for each period of care.
• Patient Report Outcome Measure Data (PROMs): This data measures health gain typically in patients undergoing hip or knee replacement but is also used to measure a patient’s health or health-related quality of life at a single point in time. This dataset lets us see whether there is any relationship between a gene variant and how well patients do after treatment or surgery.
• Mental Health and Learning Disability Set (MHLDS): This is used to analyse patient pathways and enable a deep understanding of mental health service users’ interactions with acute secondary care. For the project it is a particularly important data set as many participants with rare conditions have learning disabilities. But it also helps us see whether mental health problems such as depression are an unrecognised symptom of a genetic variant.
• Diagnostic Imaging Dataset (DID): a central collection of detailed information held by NHS Digital about diagnostic imaging tests carried out on patients, such as XRays and MRI scans. This data can provide insights into whether particular gene variants are associated with a particular tumour or condition.
• Mortality Data: Cause of death is a crucial piece of information. If a patient dies of a different illness, or in an accident, we need to record this as otherwise it will skew the data. And if people die earlier, or live longer than expected it will help us pick out the variants associated with this. Having mortality data will also reveal if people with one condition die disproportionately from another, such as heart attacks. Approval to link to this data with Office of National Statistic Data (which records deaths) must be granted by both NHS Digital and the ONS.

Public Health England

Participants in the 100,000 Genomes Project cancer programme give their explicit consent to allow their patient records to be linked to the data collected by the National Cancer Registration Service in Public Health England. More information on the data collected by the National Cancer Registration Service and how it is used is available at www.ncras.nhs.uk.

Genomics England is constantly working to identify new sources of health data to include which is important for research.

Where possible and appropriate, Genomics England will look to obtain and make available data from other research studies so that your data can be compared against more people.

Genomics England has established the Genomics England Clinical Interpretation Partnership (GECIP). Researchers who are approved to become a member of GECIP will work in domains dependent on their expertise, for example cardiology, breast cancer, neurology, paediatrics or analytics. Because very little is still known about the human genome, bringing together researchers to examine and interpret the data will mean that our knowledge about disease and how it could be treated will be vastly improved.

Research users will have restricted, remote access to de-identified datasets which contain only the information they need for their specific and approved research study.

Research users will be able to download the anonymised results of their analysis, provided that these results do not reveal the identity of any of the participants. The Information Commissioner’s Office has a code of practice on anonymisation, and this gives an indication of what will, and will not be, allowed.

The data systems that Genomics England have in place will not allow users to ‘cut and paste’ data into their own systems. Clinicians will be able to download the clinical reports on participants in their care.

Clinicians will receive feedback on participants in their care in a downloadable clinical report.

Yes. Genomics England expects that as new research reveals new information of relevance to a participant’s medical condition, then a new clinical report which captures this additional information will be issued to their clinician.

The National Genomic Research Library brings together lots of data from different sources, so Genomics England will always make your data available to the NHS if they need it for your clinical care.

Clinical reports are different for rare disease patients and for cancer patients.

For rare disease patients and their family members who are also taking part, their reports will be divided into three tiers of results.

The first tier includes findings that, with current knowledge and in line with NHS standard practice, could be fed back to the participant after being validated and signed off by their NHS Genomic Medicine Centre. These findings are limited to variants in sets of genes that when disrupted are known to cause the clinical condition under consideration. These are called virtual gene panels and are specific to the disease being investigated.

Tier two provides a larger list of variants in that same gene panel that can be helpful in gaining a more complete picture of the genetic basis of the participant’s clinical condition under consideration.

Tier three is more explorative and is not limited to virtual gene panels but looks at the whole genome, all of the participant’s health data and their family history. In some instances, information generated from this tier will highlight findings that were missed when the first two tiers were looked at and could lead to a new or more precise diagnosis for the participant. This section of the report will also include results on additional findings if participants have consented to those being looked for. This tier is where new research advances are likely to be made.

Reports for cancer patients will mainly be in three sections with information gleaned from the whole genome sequencing data:

• a high level description of the tumour’s genome and the most obvious ways it differs from the patient’s normal genome

• genetic changes in the tumour which are not present in the patient’s normal DNA in genes known to be involved in causing cancer

• changes in the normal DNA, in known cancer genes, that can make patients susceptible to the cancer that is being investigated.

As the Project evolves and in consultation with stakeholders, Genomics England will provide additional information that may help in the prognosis or management of the patient’s condition.

Genomics England is using industry-standard tools and techniques to prevent unauthorised access. Patient data travels from the NHS Genomic Medicine Centres to the Genomics England data centre – over the dedicated NHS N3 network.

Like any organisation, we are subject to attempts to probe our systems from outside and we regularly test to ensure that none succeed. We have no evidence of being targeted specifically.

All research users must sign an electronic data access agreement and submit this to Genomics England’s independent Access Review Committee along with their research application for approval. Only when their research study has been approved will they be granted remote access to only those de-identified datasets they need for their specific and approved research study.

Clinicians will not have to sign a data access agreement as by the very nature of their profession they will already have to abide by certain professional standards and adhere to their Trust’s data governance policies when dealing with a patient’s data. Failure to do so would be in breach of their terms of employment resulting in appropriate action being taken.

NHS clinicians will have access to data on patients in their care free of charge.

Academic researchers participating in Genomics England Clinical Interpretation Partnership will also have access to de-identified data free of charge, subject to their research study being approved.

Genomics England is charging industry to participate in the Discovery Forum because providing storage, security and analytic services for the data is costly and it is only right that for profit companies accessing the data for research purposes should contribute to these costs.

No data held by Genomics England will be accessible to other government agencies which includes HMRC and the Child Support Agency. In the unusual situation that a request for data is made by a court order then this will be referred to Genomics England’s Legal Counsel as promptly as possible so that all representations may be made to the court, for example, to limit the information requested being released.

The Department of Health has had confirmation from the Home Office and the Association of Chief Police Officers that they will not seek access to Genomics England’ s data.

Most of the time taking part in research projects won’t affect insurance premiums. You don’t normally have to tell insurers that you are taking part in research, or about genetic test results. However, when applying for insurance you do have to disclose any symptoms you experience or any diagnoses, screening, or treatments you receive, if this information is requested on the application form.

Direct identifiers, such as name and date of birth, will be held in a separate part of the data infrastructure. This part of the data infrastructure will be more secure, in the sense that it will not be accessible to researchers; nor, indeed, will it be accessible to the majority of Genomics England staff. Given the sensitive nature of the health and genome data, similar expectations of security apply across the whole of the data infrastructure.

In the rare cases where Genomics England staff need access to identifiable data, access will only be granted following explicit approval from Genomics England’s Senior Information Risk Owner (SIRO). Access to identifiable data will be strictly limited and protected. All actions can be audited and monitored.

Maintaining data security and protecting the privacy of participants is of the upmost importance to Genomics England.

Any researcher who attempts to re-identify data (and thus “identify” a participant) runs a significant risk of detection. Genomics England has penalties in place for any organisation or individual who breaches or attempts to breach a participant’s identity confidentiality.

Penalties for misappropriate use include revocation of user access, withdrawal of access for the organisation the offending user is employed or contracted to, and the reporting of the offending activity to the Information Commissioner which could result in a fine of up to £500,000 or even imprisonment under section 55 of the Data Protection Act.

The Information Commissioner (ICO) defines anonymisation as the process of turning data into a form which does not identify individuals and where identification is not likely to take place. The ICO also has a code of practice in relation to anonymisation. There is no standard definition for pseudonymised, and the two words are often used to mean the same thing. There is one, key, technical difference, in that ‘anonymised’ can be used to refer to aggregate data, or results, whereas ‘pseudonymised’ can only refer to individual-level data, but this does not mean that ‘pseudonymised’ data is easier to identify – it depends upon the data, and the context.

For Genomics England, only ‘anonymised’ data can be exported from the secure environment: this may be aggregate, results data, or other data from which so much information has been removed that it is highly unlikely that it could be re-associated with individual participants.

Within the secure data system, the data available to researchers is ‘de-identified’ in the sense that personal identifiers have been removed, together with any other information that is not needed for their specific, approved research purposes. More than this, a fresh, unique reference may be generated for each research purpose, so that researchers are not able to ‘collect’ information about individuals across research studies.