The customary lull in emails over the holiday period has failed to materialize this summer.  My inbox is in overdrive with news of developments to put the patient voice firmly at the centre of initiatives to use genomic data to improve human health through research.  From moves to “socialise the genome” by developing a new social contract in genomic medicine that will encourage genetic altruism to establishing a five million cohort to advance personalised treatments and diagnostic tools using artificial intelligence and return of genetic results to patients – it’s a conversation everyone is having.  Patients are central to the success of these endeavours and we want to get it right.

Public awareness is increasing and transparency in research and data protection are becoming more paramount and mandated under international law with the enforcement of the EU General Data Protection Regulation (GDPR).  Understanding Patient Data and OneLondon have usefully summarized public attitudes with their newly published report on understanding public expectations around use of health and care data, which very simply can be broken down into “say what you do, and do what you say”.  The report highlighted important gaps that researchers must now move to fill, including understanding views of minority and marginalised groups and identifying public views around secondary uses of data such as planning health services.

Extensive public dialogue on genomic medicine has crucially spread to seeking to understand people’s attitudes towards commercial access to data, and recently, what constitutes fair partnerships in the NHS?  Engagement with industry is a crucial vehicle to accelerate development of new diagnostics and treatments.  In broad terms people are happy to share their personal health data with the NHS because they can see direct benefit to patients but data sharing in a commercial context is more nuanced.  A lack of perceived benefit along with a lack of transparency around how the commercial transaction works or how data flows with the NHS mean that while the public sees genomics as having enormous potential benefit they are also extremely wary of the risks.

In our review published last year we highlighted key dilemmas that need to be addressed by the clinical and health informatics community. Whilst elaborate data security and ambitious ethical frameworks exist, there remains a lack of understanding and knowledge for patients which undermines the ethical basis under which such frameworks operate.  Without real transparency or understanding, trust is harder to earn, and despite a recognition of the importance of consent and confidentiality, consent cannot be the cornerstone of trust if people do not understand what they are consenting to and cannot meaningfully assert control over what they choose to share.

All this is a lot to assimilate in our day jobs as researchers.  The ‘AboutMe’ initiative, led by researchers and clinicians at University College London and University College London Hospital (UCLH), and funded by the NIHR UCLH Biomedical Research Centre, aims to embed research into routine medical care by linking patients’ DNA results to their EHR.  The vision is to ensure every piece of information collected from patients as part of their standard care in hospital can be used to improve quality of care and safety for patients through research, with a particular focus on supporting development of new treatments, helping us target treatments more precisely, and where appropriate return relevant genetic information back to patients.  Our vision acknowledges the increasing democratisation of healthcare, and the role of building public trust through transparency to improve the quality and impact of our research is at its core.

AboutMe will deliver an ambitious programme of engagement with the public.  The recent launch of a new Epic EHR system at UCLH heralds a great opportunity to better realise the value of routinely collected patient data for patient benefit.  Starting in the autumn we will deliver an inclusive programme of events with patients and the public to unpick the often opaque aspects of health data ownership, value and use of data, and to understand peoples’ views, expectations and concerns around use of data at UCLH.  The events will drive a series of patient-driven workshops leading to development of an operational model to guide academics/others interested in using clinical data for research, and principles to define the role of patients in decision-making and oversight of use of data for research and innovation at UCLH and the role of patients in developing future collaborations with commercial organisations and industry.  The AboutMe team is developing a series of animations – a useful mechanism for helping the public make sense of complex concepts – to illustrate the life cycle of data and demonstrate how drugs are made.  By demystifying the use of genomic and healthcare data in the drug development process we hope we can rally patients to donate a biological sample and consent to access their genomes and health records for research.

How patients, carers and healthcare providers at UCLH feel about personal EHR data being used and linked to data derived from biological samples for research is not currently known.  We are about to carry out a large survey of 13,000 members of the public, UCLH patients, carers and staff to seek their views including whether patients would be prepared to give additional samples/information (e.g. via blood draws and questionnaires) and whether they would like to receive personal health-related genomic results from the research.  We will carry out a demonstration project among patients attending a blood pressure clinic at UCLH to assess the feasibility and acceptability of returning personal genetic results to patients within the NHS for clinically actionable diseases (hypertension, type 2 diabetes, LDL cholesterol and atrial fibrillation) that will help us identify how patients can best be supported to make informed decisions about receiving personal results, how results can best be returned to patients, and what are the benefits and harms of returning results to patients.

Our work is clear but we have to cut our cloth.  Carrying out meaningful and impactful engagement (that is, interacting and listening to the public to shape research with mutual benefit) is anything but easy.  There are no hard and fast rules to follow and patients and the public don’t hold back their punches.  In addition, the research community needs to come together to coordinate local and national efforts and we will need to address how to change NHS workforce culture to increase NHS staff understanding of their role in research and the benefits.  The rewards are real and we are up for the challenge!

Natalie Fitzpatrick is Patient and Public Involvement Lead for the UCL Institute of Health Informatics and AboutMe initiative, funded by the NIHR Biomedical Research Centre at University College London Hospitals NHS Foundation Trust and University College London, and is project manager for the CALIBER research programme at UCL Institute of Health Informatics. Picture from the National Human Genome Research Institute.