Exploring Parents' and Health Professionals' Experiences of Screening for Severe Combined Immunodeficiency

BACKGROUND

Some countries have introduced newborn screening for Severe Combined Immunodeficiency (SCID) and modelling suggests it is probably cost effective in a UK setting. However, there is some uncertainty about this, and questions remain unanswered relating to its potential introduction in UK. The UK National Screening Committee (UKNSC) recommended that an evaluation should take place 'in practice' to try to answer some of these questions. The evaluation will take place in England and will involve about two thirds of babies born from September 2021 to August 2023. This amounts to approximately 800,000 newborns.

Screening for SCID within the NHS Newborn Blood Spot Screening Programme will make use of the blood spot already taken, usually by midwives, on babies at 5 days old. If, as a result of screening of this sample, babies are found to be at higher risk of SCID, parents will be notified, and the result explained. An appointment will be made for them to be seen the next day by an immunologist. At this appointment, the immunologist/clinical nurse specialist will explain the implications again and another blood test (flow cytometry) will be performed that day. The results are usually available the same day. These will be explained to the parent and depending on the result, they may be discharged ('false positive screening result') or appropriate management arranged ('true positive'). Amongst the true positives will be children with SCID, children who have other disorders (temporary or permanent) resulting in severe immune dysfunction and some children who have a problem with a particular part of their immune system (T cells) for whom the outcome is unknown on an individual basis. Although the target of the programme is SCID, children with the disorder are likely to represent only a minority of the true positives.

RATIONALE Previous research in other screening programmes has shown that delivering a false positive result to a participant, or asking them to attend hospital for further tests, following screening can have both short- and long-term deleterious effects. The size and nature of this in screening for SCID was one of the issues that the UKNSC wished to be explored. Preliminary survey and interview studies have started to explore the inherent communication dilemmas, the experiences of parents and health professionals. This project will seek to extend this work by exploring the views and experiences of parents and health professionals who participate in the clinical evaluation.

RESEARCH QUESTION/ AIMS