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

Abstract

Background: A new nationally commissioned NHS England Genomic Medicine Service (GMS) was recently established to deliver genomic testing with equity of access for patients affected by rare diseases and cancer. The overarching aim of this research is to evaluate the implementation of the GMS during its early years, identify barriers and enablers to successful implementation, and provide recommendations for practice. The focus will be on the use of genomic testing for paediatric rare diseases. Methods: This will be a four-year mixed-methods research programme using clinic observations, interviews and surveys. Study 1 consists of qualitative interviews with designers/implementers of the GMS in Year 1 of the research programme, along with documentary analysis to understand the intended outcomes for the Service. These will be revisited in Year 4 to compare intended outcomes with what happened in practice, and to identify barriers and facilitators that were encountered along the way. Study 2 consists of clinic observations (pre-test counselling and results disclosure) to examine the interaction between health professionals and parents, along with follow-up interviews with both after each observation. Study 3 consists of a longitudinal survey with parents at two timepoints (time of testing and 12 months post-results) along with follow-up interviews, to examine parent-reported experiences and outcomes. Study 4 consists of qualitative interviews and a cross-sectional survey with medical specialists to identify preparedness, facilitators and challenges to mainstreaming genomic testing. The use of theory-based and pre-specified constructs will help generalise the findings and enable integration across the various sub-studies. Dissemination: We will disseminate our results to policymakers as findings emerge, so any suggested changes to service provision can be considered in a timely manner. A workshop with key stakeholders will be held in Year 4 to develop and agree a set of recommendations for practice.

Re-Imagining the Data Collection and Analysis Research Process by Proposing a Rapid Qualitative Data Collection and Analytic Roadmap Applied to the Dynamic Context of Precision Medicine

“…The descriptor “dynamic” that we use throughout our study refers to the rapid evolution of the technology used in precision medicine, the constant refinement of processes, and the constantly changing knowledge base as new genes are studied and reported. Our methodological roadmap may therefore have intuitive appeal within (Lewis et al, 2022) and across broader dynamic and rapidly evolving environments such as its application within the COVID-19 vaccination program as a diagnostic tool. Our methodological roadmap would work well in assessing the national vaccination program amid the emergence of rapid viral variants causing ongoing changes to the evidence base as new strains of COVID-19 evolve, such as the global spread of the Omicron subvariant BA.1 and stealth Omicron BA.2 or Fluorna (Chadeau-Hyam et al, 2022; Dejnirattisai et al, 2022; Grabowski et al, 2022; He et al, 2021; Lyngse et al, 2022).…”

Public and patient involvement in research to support genome services development in the UK

“…In many ways, the core principles of good PPI apply as with any other health research -but there are potential conflicts between social and scientific perspectives of genomics, and particular issues for patients such as the benefits and risks of knowing certain types of genomic information, such as variants of unknown significance and secondary findings, which means a particularly attentive approach to PPI is warranted [34,35] . PPI strategies that include a focus on underserved populations are also an important part of helping to address the issue of a lack of diversity among the participants in genomics research to date [36,37] . This article describes recent and current PPI case studies [Tables 1-5] from research focused on delivery of genomics in the NHS, and what lessons can be learned.…”