Abstract
BackgroundA 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.MethodsThis 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 prespecified constructs will help generalise the findings and enable integration across the various sub-studies.DisseminationWe 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.
Highlights
Context In October 2018, a new nationally commissioned Genomic Medicine Service (GMS) was established by NHS England. This service, built around seven Genomic Laboratory Hubs (GLHs), aims to deliver consolidated, state of the art, high throughput and high-quality genomic testing with equity of access for patients affected by rare diseases and cancer[1]
The overall goal of the GMS is that from 2020, and by 2025, genomic medicine will be embedded in multiple clinical pathways in routine care, where appropriate, and linked to a broader NHS long term plan of sequencing 500,000 whole genomes for patients with certain rare diseases and cancers, incorporating the latest genomics advances into routine healthcare to improve diagnosis, stratification and treatment of illness, and supporting research and innovation[3]
The NHS GMS will undoubtedly improve the diagnosis and management of patients and their families affected by rare genetic diseases, and provide emotional relief for parents who have been searching for answers
Summary
Context In October 2018, a new nationally commissioned Genomic Medicine Service (GMS) was established by NHS England. 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. 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. A workshop with key stakeholders will be held in Year 4 to develop and agree a set of recommendations for practice
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