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

Not Applicable

• Conditions: Evaluation of a clinical service offering rapid genomic sequencing for the diagnosis of critically ill babies and children; Not Applicable

• Registration Number: ISRCTN52590306
• Lead Sponsor: Great Ormond Street Hospital for Children NHS Foundation Trust

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2021-09-20
• Last Update Posted: 4 October 2021
• Study Completion: 2023-10-31

Recruitment & Eligibility

• Status: Ongoing
• Sex: All
• Target Recruitment: 230

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

Exclusion Criteria

Under 18 years of age

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Parent attitudes towards rapid genomic sequencing, measured using qualitative interviews and thematic analysis at least 3 months after being offered testing

Secondary Outcome Measures

Name	Time	Method
<br> 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<br> 2. Change in clinical management following rapid genomic sequencing, measured using a clinical audit for all patients tested in a 12-month period<br>