Genetic screening in newborn Genetic Diseases Congenital Disorders
Conditions
Interventions
This study contains four phases. Phase one is planned for six months. The second phase is conducted after six to 12 months.
Phase 1 (0-6 months):
This involves a condu
Sponsors
City, University of London
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Parents: Parents of children who have received a NBS+ result in the previous 3-12 months including true positives, false positives and children who later have a cystic fibrosis screen positive, inconclusive diagnosis (CFSPID). This time frame has been chosen as the focus for this research based on feedback from parents of children who have previously received a NBS+ result. It has also been demonstrated that positive NBS can impact on child-parent relationships during the first year of life. Health professionals: 1. Staff employed in NBS laboratories and involved in the processing of NBS+ results 2. Staff who have been involved in communicating NBS+ results to parents in the last 6 months.
Exclusion criteria
Exclusion criteria: Parents: 1. Parent of children who have received a negative NBS result 2. Parents of children with co-morbidities that are likely to influence their perception of receiving the positive NBS result 3. Parents whose baby has died prior to being approached to be involved in the study 4. Inability of parents to understand and give informed consent 5. Parents whose recruitment is contraindicated on psychosocial grounds (identified by their health visitor or specialist nurse) Health professionals: 1. Staff who have not been involved in communicating positive NBS results to parents in the last 6 months 2. Staff who have personal experience of receiving a positive NBS result
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Production of co-designed, evaluated interventions for the communication of initial, positive NBS results to parent measured during the process evaluation and health economic analysis during months 18-27. | — |
Secondary
| Measure | Time frame |
|---|---|
| Phase 1: Description of current communication practice measured during interviews with staff at 4-6 months. Phase 2: Co-designed interventions for the four condition specific groups produced during the co-design working group at 6-18 months. Phase 3: 1. The cost of current communication strategies and costs associated with the co-designed interventions measured during the health economic evaluation during months 18-27 2. The acceptability and feasibility of the of the co-designed interventions measured during the process evaluation during months 18-27 3. Choice of potential outcomes measures (GAD 7 PHQ 9 PSI EQ5D and ICECAP-A) for use in a future evaluation study measured during the process evaluation and economic evaluation during months 18-27 Phase 4: Need for and design of a future evaluation study measured during the focus group during months 27-30. | — |
Countries
England, United Kingdom
Contacts
Public ContactJane Chudleigh
Outcome results
None listed