Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol.

ABSTRACT

BACKGROUND AND AIMS: Genome sequencing (where a person's entire genetic code is mapped) is set to dramatically transform patient care and medical outcomes. Recently, genome sequencing was introduced as part of routine clinical care in the NHS, through the Genomic Medicine Service (GMS). The aim of this research is to understand how genome sequencing is being delivered in the first few years of the Service, in particular what the barriers and enablers are to successful delivery. The focus of the study will be the use of genome sequencing for children with undiagnosed conditions. STUDY DESIGN: This is a four-year study in which we will conduct: observations of clinic appointments; interviews with policy makers and health professionals designing and implementing the new service; and surveys/interviews with parents of patients undergoing genomic testing. By the end of this study we will have: - a better understanding of the intended vs actual outcomes of the GMS,- insights into what happens during clinical encounters,- understand what the entire testing process is like for parents from being offered genomic testing to receiving their results and beyond, including the clinical as well as emotional and practical outcomes, and- understand how healthcare professionals feel about delivering the GMS, particularly those that are non-genetic specialists, including how prepared they feel to deliver genomic testing. Patient and public involvement: Parents of children who have been through the testing process have helped us design this study. They have inputted into surveys and topic guides, and will be involved throughout the study as members of the advisory team so that we can ensure the findings are used to improve the quality of care patients and families receive. DISSEMINATION: The findings from this research will be shared with organisations such as NHS England and NHS Improvement so that recommendations can be implemented swiftly.