Ethics and social science

The aim of this GeCIP sub-domain is to combine empirical bioethics research, conceptual and theoretical analysis, and professional and public engagement to examine the concept of ethical preparedness in the context of genomic medicine. We define ethical preparedness as the ability and willingness to work in morally-appropriate ways, even within emerging, rapidly-changing, and complex fields such as genomic medicine. This sub-domain will bring together scholars with established and complementary experience of researching the social and ethical implications of emerging medical technologies to: (a) engage practitioners, policy makers and patients in the field of genomic medicine with the concept of ethical preparedness, and to encourage further conceptual analysis and critique of the concept within bioethics (b) adopt a range of methodologies to capture and assess current levels of ethical preparedness (c) engage professionals in a process of co-research and co-production through a shared Genethics Forum (d) translate the findings into future genomic practice and policy (e) achieve these goals through close interaction with other sub-domains.

This sub-domain is important for the translational aims of the 100KGP programme and future implementation of genomic medicine in the NHS. Achieving appropriate integration of genomic medicine into healthcare services will require consideration of multiple factors related to the healthcare system including, but not restricted to, balancing the needs of different groups of patients, ensuring fair access to genomic medicine for all members of the population, considering the areas of genomic medicine that are clinically effective and deciding which are a fair use of commissioning resources, setting fair priorities for genomic services across the NHS, translating these priorities into the necessary service plans for local populations and then supporting the development of these services, monitoring and continuously improving services in response to new “bench” advances and getting these results into practice, providing ongoing training and education of the workforce and ensuring high quality services by analysing risks and ensuring resolution when required.

The successful introduction of genomics into clinical practice and its use at the interface between research and clinical practice depends crucially upon the availability of high quality evidence about the experiences, expectations, and concerns of patients, research participants and the wider public. This research is essential to inform the development of evidence-based approaches to good practice in the clinical uses of genomics in the NHS. It is also vital for the development and evaluation of services and research programmes capable of commanding the well-founded trust and confidence of patients and the public.

Many small-scale, local, qualitative interview studies are being conducted with patients participating in the 100,000 Genomes Project across the country. While these small studies are providing in-depth insights on patients’ views and experiences, there is an urgent need to scale up and collect large-scale national data on patient-reported outcomes using methodologies that allow patients’ views and experiences to be quantified. Conducting this large-scale national research on patient-reported outcomes will truly leverage the power and scale of the 100,000 Genomes Project, rather than insights on patients’ views and outcomes being limited to those that are small and local in nature. The overarching goal in this project is therefore to generate solid large-scale empirical research data on the psychosocial, clinical and behavioural outcomes of whole genome sequencing for patients on a national level. The project will assess the utility (balance of benefits and risks) of returning personal results from whole genome sequencing to patients and their families; improve our understanding of the implications of returning primary and secondary findings from genome sequencing; and provide policy-relevant insights that can be used to understand and optimise communication of those findings, to patients and their families. The specific aims are to assess positive and negative psychological reactions, and the patient-reported impact on health, social outcomes, healthcare utilisation and other personal and health-related outcomes, of both primary and secondary personal results.