Evaluating rapid genomic sequencing for critically ill children
Research type
Research Study
Full title
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
IRAS ID
304769
Contact name
Melissa Hill
Contact email
Sponsor organisation
Great Ormond Street Hospital NHS Foundation Trust
ISRCTN Number
52590306
Clinicaltrials.gov Identifier
ISRCTN , ISRCTN52590306
Duration of Study in the UK
1 years, 11 months, 31 days
Research summary
Summary of Rsearch
Rapid genomic sequencing is offered to critically ill children when they have symptoms that suggest that they have a genetic condition. Rapid genomic sequencing increases the chance of quickly finding the cause of the child’s illness. If a genetic condition is diagnosed this can give parents important information about the outlook for their child and help with decisions about treatments and management.Summary of Results
Parent views and experiences of rapid genomic sequencing (rGS) for acutely unwell childrenRapid genomic sequencing (rGS) is a test that has been offered by the NHS in England since October 2019 when a baby or child is seriously unwell and doctors think the cause is a genetic condition. The rGS test can diagnose genetic conditions by looking closely at the genome, which is the body’s ‘instruction manual’. Our research has looked at rGS testing across the NHS in England to find out what information and support parents need, whether there is equal access to the test, the usefulness of the results and what further training doctors and nurses might need. An advisory group, with representatives of patient support groups and parents with relevant experiences, contributed to study design, developing study materials and understanding findings.
At the start of the study, we conducted a survey with parents of children with rare, genetic and/or undiagnosed conditions. Survey questions gathered views on rGS, our research plan and sharing our findings. Parents were invited to complete the online survey through social media advertisements between June 2022 and August 2022. Parents could read an information sheet or watch a video describing the test and research plan. The survey was completed by 108 parents. Most survey respondents agreed (98.5%) that rGS should be offered by the NHS. The need for careful pre-test counselling and support after results was discussed in free-text comments. Information and support needs when told results and impact of rGS on care and treatment were the existing research topics chosen most often as important to address. Free text suggestions for other research topics frequently highlighted follow-up care after results. Findings have informed our research questions, interview topic guides, survey content and plans for sharing the findings.
We interviewed 58 parents (51 families – 38 with a diagnosis) whose child had rGS testing. Interviews were conducted between July 2022 and February 2024. Parents were “incredibly grateful” to be offered rGS. and no parents regretted testing. Parents need expert support and counselling when rGS is offered as there is a lot of information to take in at a very stressful time. Parents also highlighted that genetics can be “complex” or “abstract”. Access to interpreters and information that can be accessed at any time in a range of formats and languages is needed. Parents valued the information from the tests for informing how their child was cared for and information for testing in future pregnancies. Experiences of receiving results, signposting and follow-up care were mixed. Some parents had very positive experiences, others highlighted gaps in follow-up care. Parents with a diagnosis often had additional appointments across various teams and a clear point of contact. A lack of clear care pathways and limited options for contacting relevant professionals were common issues for parents without a diagnosis. It is important that all families have access to follow-up care, regardless of the type of result received, and are told where to find appropriate sources of information and support.
Thank you!
We thank all of the parents who took part in this study. We are very grateful to you for sharing your views and experiences.How has this study helped patients and researchers?
The aim of our wider study was to examine the delivery of rGS from the perspective of parents and professionals to inform clinical practice and ensure high quality care for patients and parents.
Our findings have been shared with clinical teams and policy makers to provide guidance on supporting decision making and meeting parents information and support needs.This is the first time that rapid genomic sequencing for critically ill children has been offered nationally in the NHS. Our research will consider whether rapid genomic sequencing is offered in a way that is beneficial to patients and supportive of parents. We will look at how best to support decision making when parents are distressed and make recommendations to address any challenges or barriers to delivering the service across England.
The study aims to examine how rapid genomic sequencing for critically ill children is being delivered by the NHS so that we can provide recommendations that will improve quality of care for patients and parents.
To do this we will;
1. Survey parents whose children are affected by rare genetic conditions. This will help us focus our research on the issues that are most important for parents.
2. Interview parents whose children were offered rapid genomic sequencing when they were critically ill to ask what they think of the test and how support and information could be improved.
3. Interview professionals involved in establishing the rapid genomic sequencing service to look at how the service is delivered and what training is needed.
4. Look at all of the tests done in a 12 month period (~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 our findings together and make recommendations for best practice.
REC name
West of Scotland REC 3
REC reference
21/WS/0133
Date of REC Opinion
6 Dec 2021
REC opinion
Further Information Favourable Opinion