A patient-centred evaluation of the new NHS Genomic Medicine Service
Research type
Research Study
Full title
Delivering genomic medicine in clinical practice: a patient-centred evaluation of the new NHS Genomic Medicine Service
IRAS ID
286312
Contact name
Celine Lewis
Contact email
Sponsor organisation
UCL Great Ormond Street Institute of Child Health
Clinicaltrials.gov Identifier
Z6364106/2021/03/62, Data protection reference number
Duration of Study in the UK
3 years, 6 months, 0 days
Research summary
Next-generation sequencing technologies including whole exome and genome sequencing, are increasingly being used to aid diagnosis of children and adults with rare diseases. From 2019, following on from the 100,000 Genomes Project, genome sequencing will become part of an NHS England commissioned national genomic medicine service for rare inherited disease. Although much has been learnt from the 100,000 Genomes Project, numerous questions and challenges remain regarding how best to deliver genomic medicine in clinical practice. Of particular interest is how best to 'mainstream' genetic/genomic testing across different clinical specialities.
The aim of this study is to evaluate the new NHS Genomic Medicine Service using behavioural science methods and deliver feedback and recommendations for practice to optimise care. The main objectives are to:
1. Understand the anticipated goals and challenges for offering genetic and genomic testing in the new Genomic Medicine Service.
2. Understand patient-provider communication around offering genetic and genomic testing and returning results for paediatric rare disease, and deliver recommendations for enhancing this communication process.
3. Examine longitudinally the processes, outcomes and impact (benefits and harms) on patients & families of genetic/genomic testing for rare diseases, and identify ways to mitigate harms and maximise benefits going forward.
4. Establish the effectiveness and satisfaction of patients and families with rare diseases who are accessing genetic and genomic tests outside of the genetics clinic and through non-genetic specialist services (“mainstreaming”).
5. Identify any outstanding educational, counselling and/or support needs required by patients and families accessing genomic services, as well as genetic and non-genetic health professionals delivering the new Service.
6. Identify challenges and barriers that may prevent the NHS from achieving mainstream adoption of genomics in the NHS and solutions, and identify actions to support equitable and successful implementation across all hospitals and specialist providers.
REC name
London - Bloomsbury Research Ethics Committee
REC reference
21/PR/0678
Date of REC Opinion
16 Jul 2021
REC opinion
Further Information Favourable Opinion