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

Celine Lewis,Bettina Friedrich,Ruth Horn,Angus Clarke,Anneke M Lucassen,Emma Clement,Jillian Hastings-Ward,James Buchanan,Monica Lakhanpaul,Melissa Hill,Sarah L Wynn,Alexandra Pickard,Chris Patch,Cecilia Vindrola-Padros,Saskia C Sanderson,Lauren Roberts

doi:10.3310/nihropenres.13236.2

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.

Highlights

The Genomic Medicine Service 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

Introduction

The Genomic Medicine Service 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 (including both genome and exome sequencing) with equity of access for patients affected by rare diseases and cancer[1]. The GMS capitalises on the infrastructure and learning from the 100,000 Genomes Project, a world-leading initiative set up in England in 2015 with the explicit aim of embedding genomic medicine into clinical care to improve diagnosis and management of patients affected by selected rare and inherited diseases and cancer[2]. 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. Research focused on whether and how health professionals are managing parental expectations of genomic testing in the NHS GMS would be of value

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Methods

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Conclusion