Understanding experiences of recruiting for, and participating in, genomics research and service transformation: the 100,000 Genomes Project, 2015-17

The 100,000 Genomes Project (the ‘Project’), announced in December 2012, was established to: • develop new capability and capacity in genomic medicine in order to transform the provision of health services in England; • create new capability for clinical genomics research and • establish an infrastructure for the protection and analysis of clinical and genomic data. The primary mechanism to achieve these aims was through sequencing 100,000 genomes from patients with cancers, rare disorders and infectious diseases, linking the resultant sequence data to a standardised, extensible account of diagnosis, treatment and outcomes. The Project achieved its goal of sequencing 100,000 genomes in December 2018. The Policy Innovation and Evaluation Research Unit (PIRU) at London School of Hygiene and Tropical Medicine (LSHTM) was asked by the then Department of Health to conduct a qualitative study exploring the experiences of those people who donated their DNA to the Project (‘participants’) and the experiences of health care staff involved in the Project, as well as the public’s perceptions of genomic research more generally. Data collection for the current study took place between late 2015 and late 2017. The aims of this study were to: • Understand the motivation of people who agreed to take part in the 100,000 Genomes Project; their experiences of receiving information, giving consent and taking part; their attitudes to data sharing, governance and confidentiality and their views about feedback and use of their Project data for research and clinical care. • Learn about the experiences of clinicians who asked people to take part in the Project. • Explore the understanding and perceptions of members of the public of genomic research in general. • Explore the understanding and perceptions of the non-specialist NHS workforce of genomic research in general, and of the 100,000 Genomes Project in particular, and to identify potential training needs related to any roll-out of genomic medicine services in the NHS. • Draw on the above, in order to make suggestions for improvement, thereby improving the likelihood of the Project achieving its goals. This summary report complements the full report of the study which sets out the methods and findings in greater detail (Ryan et al., 2020). There is also a related section on the healthtalk website (healthtalk.org/experiences-participating-100000genomes-project) which draws on this study’s interviews with participants. It includes eight educational films covering differing aspects of the experience of taking part in the 100,000 Genomes Project: • being invited to take part; • concerns about taking part; • reasons for wanting to take part; • deciding to take part; • sample storage; • data protection and sharing; • thoughts on medical research and genomic medicine; • messages for health professionals and Genomics England. This resource will be of interest and of use to healthcare professionals, policy makers and the general public.