Evaluation of a clinical service offering rapid genomic sequencing for the diagnosis of critically ill babies and children Not Applicable
Conditions
Interventions
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. Su
Sponsors
Great Ormond Street Hospital for Children NHS Foundation Trust
Eligibility
Sex/Gender
All
Inclusion criteria
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
Exclusion criteria: Under 18 years of age
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Parent attitudes towards rapid genomic sequencing, measured using qualitative interviews and thematic analysis at least 3 months after being offered testing | — |
Secondary
| Measure | Time frame |
|---|---|
| 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 | — |
Countries
England, United Kingdom
Contacts
Public ContactMelissa Hill
Outcome results
None listed