Rapid genomic sequencing for the diagnosis of critically ill children in the NHS Genomic Medicine Service: Ensuring an equitable and effective parent and patient-centred service
| ISRCTN | ISRCTN52590306 |
|---|---|
| DOI | https://doi.org/10.1186/ISRCTN52590306 |
| IRAS number | 304769 |
| Secondary identifying numbers | IRAS 304769, NIHR202725 |
- Submission date
- 15/09/2021
- Registration date
- 20/09/2021
- Last edited
- 20/09/2021
- Recruitment status
- No longer recruiting
- Overall study status
- Completed
- Condition category
- Other
Plain English summary of protocol
Background and study aims
Rapid genomic sequencing is a relatively new technology that allows scientists to look in much greater detail at a person’s genes than ever before. Rapid genomic sequencing can be used to look for changes in genes that may cause a genetic disorder. The NHS has recently started offering rapid genomic sequencing to babies and children who are critically ill to try and rapidly find the underlying genetic cause of their condition. The child and the parents are offered the test as it is useful to compare a child’s DNA with DNA from both parents and identify the harmless gene changes which can run in families.
This is the first time that rapid genomic sequencing for critically ill children has been offered nationally in a public health service. This research will make sure that this new service is useful for patients, parents and the NHS. The aim of this study is to examine the delivery of rapid genomic sequencing in the NHS from the perspective of parents and professionals and consider and the impact of the test on patient care.
Who can participate?
1. Parents and carers of a child with a rare or undiagnosed condition
2. Parents who have been offered rapid genomic sequencing in the NHS
3. Professionals involved in delivering the rapid genomic sequencing service
4. Over 18 years of age
What does the study involve?
The researchers will;
1. Conduct a survey with parents and carers of children with rare and undiagnosed conditions that will help them focus their research on the issues that are most important for parents and carers.
2. Interview parents whose children had rapid genomic sequencing when they were seriously ill to ask what they think of the test and how support and information could be improved.
3. Interview and survey professionals to look at how rapid genomic sequencing is delivered across England and ask what training and education they need.
4. Look at all of the tests done in a 12-month period (about 700) to see if families from all over England have access to the test and whether the test changed the care children received.
5. Gather all their findings together and make recommendations for best practice.
What are the possible benefits and risks of participating?
There is no immediate and direct benefit to taking part in the study. However, participants will be helping to improve the information and support given to families when they are offered rapid genomic sequencing.
Where is the study run from?
Great Ormond Street Hospital for Children NHS Foundation Trust (UK)
When is the study starting and how long is it expected to run for?
September 2021 to October 2023
Who is funding the study?
The National Institute for Health Research (NIHR) (UK)
Who is the main contact?
Dr Melissa Hill, melissa.hill@ucl.ac.uk
Contact information
Public
NHS North Thames Genomic Laboratory Hub
Great Ormond Street Hospital for Children NHS Foundation Trust
Level 5, Barclay House
37 Queen Square
London
WC1N 3BH
United Kingdom
 ORCID ID |
0000-0003-3900-1425 |
|---|---|
| Phone | +44 (0)20 7405 9200/8225 |
| melissa.hill@ucl.ac.uk |
Scientific
NHS North Thames Genomic Laboratory Hub
Great Ormond Street Hospital for Children NHS Foundation Trust
Level 5, Barclay House
37 Queen Square
London
WC1N 3BH
United Kingdom
| Phone | +44 (0) 207405 9200/8225 |
|---|---|
| melissa.hill@ucl.ac.uk |
Study information
| Study design | Multi-centre mixed-methods design using qualitative and quantitative approaches |
|---|---|
| Primary study design | Observational |
| Secondary study design | Cross sectional study |
| Study setting(s) | Hospital |
| Study type | Diagnostic |
| Participant information sheet | Not available in web format, please use the contact details to request a patient information sheet |
| Scientific title | Rapid genomic sequencing for the diagnosis of critically ill children in the NHS Genomic Medicine Service: A mixed-methods evaluation to ensure an equitable and effective parent and patient-centred service |
| Study objectives | Rapid genomic sequencing approaches, including whole and targeted genome and exome sequencing, are increasingly being used for the diagnosis of critically ill babies and children. These tests can be invaluable for directing patient management, identifying treatment options, or guiding decisions around palliative care, whilst avoiding invasive or painful diagnostic interventions. Rapid genomic sequencing for the diagnosis of critically ill children is now being offered routinely in the NHS Genomic Medicine Service. This is the first time that rapid genomic sequencing has been offered nationally in a public health service in mainstream clinical care. This mixed-methods evaluation will examine the delivery of this service from the perspective of parents, patients and professionals. Research questions: 1. What are parent’s experiences of rapid genomic sequencing when it is offered routinely in the NHS and how are information and support best delivered to them? 2. What are the barriers to informed decision-making and how can these be minimised? 3. What factors act as facilitators or barriers to diversity and inclusivity in the service? 4. Are there any unexpected negative psychosocial impacts on parents? 5. What are the experiences of professionals (clinical scientists, genetics and non-genetics clinicians) of coordinating the clinical service and returning results in a rapid timeframe? 6. What are the outcomes (diagnostic yield, referral rates) of the service? 7. Is there regional variation in service delivery, what factors contribute to this, and how can they be addressed? 8. Is the service helping the overall management of patients? 9. Is collaborative working across multidisciplinary teams effectively supported? 10. Are the education and training needs of mainstream clinicians being met? |
| Ethics approval(s) | Not provided at time of registration |
| Health condition(s) or problem(s) studied | Evaluation of a clinical service offering rapid genomic sequencing for the diagnosis of critically ill babies and children |
| Intervention | This study is a mixed-methods evaluation of the rapid genomic sequencing service that is offered by the NHS Genomic Medicine Service. The evaluation consists of four sub-studies: 1. Survey with parents and carers of children affected with genetic, rare or undiagnosed conditions: Parents and carers will be recruited through patient organisations and asked to complete a brief online survey (15-20 minutes) that will gather their thoughts on the service and our research plan. 2. Qualitative interviews with parents and professionals: Parents who have been offered rapid genomic sequencing for their critically ill child will be recruited through clinical genetic services. Professionals involved in delivering the service will be recruited from clinical genetic services and specialist paediatric services. Potential participants will be invited to take part in a qualitative interview that will take 45-60 minutes and use a semi-structured interview guide, The interviews will explore clinical and personal utility, the information and support needs of parents and challenges for service delivery. 3. Cross-sectional descriptive survey with professionals: Professionals involved in delivering the rapid genomic sequencing services will be invited to complete a brief online survey (20 minutes) that will consider challenges for service delivery and training needs. 4. Clinical audit to assess outcomes, clinical utility and equity of access: The researchers will examine patient management and clinical outcomes following rapid exome sequencing for all patients referred through the rapid genomic sequencing service in England over a 12-month period (~700 cases) to determine test outcomes, clinical impact and equity of access. They will integrate the findings from the four sub-studies using a triangulation protocol and develop parent and patient-centred recommendations for the service. |
| Intervention type | Other |
| Primary outcome measure | Parent attitudes towards rapid genomic sequencing, measured using qualitative interviews and thematic analysis at least 3 months after being offered testing |
| Secondary outcome measures | 1. Challenges for delivering rapid genomic sequencing in the NHS, measured using qualitative interviews and surveys with professionals conducted within a 12-month period, which will be analysed with thematic analysis and descriptive statistics, respectively 2. Change in clinical management following rapid genomic sequencing, measured using a clinical audit for all patients tested in a 12-month period |
| Overall study start date | 16/09/2021 |
| Completion date | 31/10/2023 |
Eligibility
| Participant type(s) | Mixed |
|---|---|
| Age group | Adult |
| Lower age limit | 18 Years |
| Sex | Both |
| Target number of participants | 230 |
| Key inclusion criteria | 1. Parents/carers of children with rare or undiagnosed conditions 2. Parents who have been offered rapid genomic sequencing because their baby or child was critically ill 3. Parents who have been offered rapid genomic sequencing to inform management of a current pregnancy because they had a previously affected undiagnosed fetus/child 4. Professionals from clinical genetics and paediatrics specialties 5. Over 18 years of age 6. Able to give consent for participation |
| Key exclusion criteria | Under 18 years of age |
| Date of first enrolment | 01/11/2021 |
| Date of final enrolment | 30/06/2023 |
Locations
Countries of recruitment
- England
- United Kingdom
Study participating centres
London
WC1N 3JH
United Kingdom
Exeter
EX2 5DW
United Kingdom
Birmingham
B4 6NH
United Kingdom
London
E1 1BB
United Kingdom
Manchester
M13 9WL
United Kingdom
Sponsor information
Hospital/treatment centre
Great Ormond Street
London
WC1N 3JH
England
United Kingdom
| Phone | +44 (0)20 7405 9200 |
|---|---|
| research.governance@gosh.nhs.uk | |
| Website | http://www.gosh.nhs.uk/ |
"ROR" |
https://ror.org/03zydm450 |
Funders
Funder type
Government
Government organisation / National government
- Alternative name(s)
- NIHR Research for Patient Benefit Programme, RfPB
- Location
- United Kingdom
Results and Publications
| Intention to publish date | 31/10/2024 |
|---|---|
| Individual participant data (IPD) Intention to share | Yes |
| IPD sharing plan summary | Other |
| Publication and dissemination plan | Planned publication in a peer-reviewed journal. |
| IPD sharing plan | All data generated or analysed during this study will be included in the subsequent results publication. |
Editorial Notes
17/09/2021: Trial's existence confirmed by the National Institute for Health Research (NIHR) (UK).
