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.
Lay summary of study results: Implementation and Impact of Whole Genome Sequencing in the NHS Genomic Medicine Service
This body of research examines the implementation and delivery of whole genome sequencing (WGS) for diagnosing rare diseases in children within the NHS Genomic Medicine Service (GMS) in England. It explores service rollout, healthcare professional preparedness, communication practices, parental experiences, and psychological impacts.
The NHS GMS aims to integrate WGS into routine clinical care, transforming diagnosis for paediatric rare diseases. While there is strong support for this ambition, the research identifies several challenges to effective service delivery. Key barriers include workforce shortages, insufficient genomic training and confidence among paediatricians and other clinicians, and limited digital infrastructure to support standardized and efficient care.
Healthcare professionals, particularly those expected to offer WGS in a mainstream setting (i.e. non-genetic specialists) report low confidence in tasks such as interpreting complex genomic results and communicating these findings to families. Time constraints and unclear guidance further compound these challenges. Recommended solutions include expanding genomic education, hiring genomic associates to assist with consent and administration, and enhancing digital tools for streamlined workflows.
Communication of WGS results to families varies widely across NHS sites. Letters to parents differ in content detail and readability, sometimes containing technical language that can be difficult to understand, particularly when results are uncertain or negative. Consent conversations usually cover key information about testing and data use but often do not fully explore parents’ values or the possibility of future reanalysis. Digital consent recording and dedicated support roles can improve this process.
Studies of actual parent-clinician interactions during results disclosure reveal complex challenges. These include explaining genetic diagnoses that precede detailed clinical understanding, managing unexpected or incidental findings, addressing diagnoses with uncertain prognosis, and navigating adult-onset risks discovered in children. These complexities underscore the need for tailored guidance and training for clinicians on communicating genomic results sensitively and effectively.
Parental feedback indicates high satisfaction with WGS appointments and low decisional conflict, suggesting most parents feel well-informed and supported in their testing decisions. However, about one in five parents experience moderate to severe anxiety, especially younger parents, those with lower education, lower resilience, or lower tolerance for uncertainty. Parenting a child with an undiagnosed rare condition also impacts quality of life, emphasizing the importance of providing tailored psychosocial support.
Considerable variation exists between NHS Trusts in how WGS services are delivered, including who undertakes key tasks and how workflows are organized. Standardizing operating procedures and creating dedicated roles to handle consent and administrative duties could reduce genetic specialists’ workload, improve turnaround times, and enhance consistency and equity of care.
Key Recommendations:
Expand genomic education and training to improve healthcare professionals’ confidence and preparedness, including guidance on communicating complex or uncertain results.
Create and integrate support roles such as genomic associates to assist with consent processes, administrative tasks, and patient communication.
Enhance digital infrastructure to streamline service delivery, including digital recording of consent and coordinated data management.
Develop national guidelines for clear, accessible written communication of WGS results tailored to families’ needs.
Ensure consent conversations actively elicit parental values, concerns, and explain possibilities for future data reanalysis.
Provide psychosocial support tailored to parents facing uncertainty and challenges associated with rare and undiagnosed conditions.
Standardize WGS service delivery processes across NHS sites to reduce variation, improve efficiency, and ensure equitable access.
This integrated evidence offers valuable insights to improve genomic medicine services in the NHS and provides lessons relevant to other healthcare systems adopting genomic technologies.
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