Communication of carrier status information following universal newborn screening for sickle cell disorders and cystic fibrosis: qualitative study of experience and practice

Objectives: To describe and explore current practice, methods and experience of communicating carrier status information following newborn screening for cystic fibrosis (CF) and sickle cell (SC) disorders, to inform practice and further research. Design: Three linked qualitative studies. Setting: All nine health regions in England. Participants: Child health screening co-ordinators in all English health regions, health professionals communicating results to parents and parents of newborn carriers. Methods: A preliminary phase of semi-structured telephone interviews with child health screening co-ordinators in all nine English health regions, and thematic analysis of data; semi-structured face-to-face interviews with purposeful samples of 67 family members of 5 1 infants identified by universal newborn screening as carriers of CF or SC with data analysis by constant comparison; and semi-structured telephone interviews, and focus groups, with a key informant sample of 16 differing health professionals currently tasked with communicating results to parents in a range of ways, with thematic analysis of data. Results: Methods for and respondents' experiences of communication of carrier results varied considerably within and between regions, and within and between SC and CF contexts. Approaches ranged from letter or telephone call alone, to in-person communication in the clinic or at home, with health professionals from haemoglobinopathy, CF, screening and genetics backgrounds, or from community and primary care, such as health visitors with SC carrier results. Health professionals identified pros and cons of different methods, preferring opportunity for faceto-face communication with parents where possible, particularly for CIF carrier results.They were concerned by regional variations in protocols, the lack of availability of translated information on SC carrier results, and the feasibility of sustaining more 'specialist' involvement at current levels, particularly for SC carriers. Parents were often poorly prepared for the possibility of a newborn carrier result. Some had felt overloaded by screening information received during pregnancy or prior to newborn screening, or found this information failed to meet their needs. Opportunity for face-toface communication of results was valued by parents of SC carriers and appeared particularly necessary for those without prior knowledge of SC carrier status or where English was not their first language. Indirect communication of results by letter appeared effective and feasible for parents more aware of SC carrier status from antenatal or earlier experience, and where this communication contained an unambiguous opening statement emphasising'your child is not ill'. Face-to-face communication of CF carrier results by professionals with screening, CIF or genetics backgrounds worked well for parents, but communication and information was crucially lacking at the earlier stage of repeat blood spot testing, creating considerable distress among half of respondents. Respondents had no particular preference for the type of health professional who communicated results to them, as long as they were well informed and could answer their queries. Parents regarded carrier results as valuable information gained fortuitously. Conclusions: Methods of communication of newborn carrier results vary considerably across England. Parents' needs for timely and appropriate information may not be met consistently or adequately. Respondents' experiences suggest a need for greater recognition of communication with individuals occurring across a screening pathway, rather than as a discrete event.