Communicating sickle cell trait results after newborn screening: Approaches and implications to families

Abstract

AbstractIntroductionTanzania is amongst the countries in Africa with one of the highest prevalence of individuals with Sickle Cell Trait (SCT). Identifying individuals with SCT is important as they may potentially have children with Sickle Cell Disease (SCD). Interventions such as Newborn Screening (NBS) for SCD can identify individuals carrying the gene very early on to explore strategies for primary prevention.AimThis study aims to document experiences and perspectives of families who have received SCT results for their children through the NBS Program. We were interested to learn their perspectives on the communication approaches used and implications of the results to families. Our overall goal is to evaluate what approaches works best to support comprehension, understanding of genetic testing, concepts of inheritability and general understanding of SCD. We further aim to explore key issues considered by families as most important to inform not only methods, but also most locally relevant content to guide genetic counselling sessions.MethodsIn total 29 families provided with SCT results participated in six (6) Focus Group Discussions. Families were recruited through NBS program implemented between June to September 2021. Analysis of the data was done through thematic content analysis.ResultsFindings were categorized into two main categories; (1) Key issues to consider when communicating sickle cell trait results to families. The following themes were identified under this category; (1a) Language used to explain the results (1b) Methods used to provide the results (1c) Who was provided with the results (1d) Families comprehension of the results and (1e) What influences families’ understanding of the results(2) What are the implications of the results to families. The following themes were identified under this category; (2a) How results influenced future reproductive choices (2b) How will the information be kept within families (2c) Age a child will start to be informed about the results (2d) How results influence gender blames within families.ConclusionUnderstanding how to ensure genetic results have been properly communicated is core in developing a genetic counselling program. In places where the programs are not well established, there is a need to explore contexts specific approaches to inform ethically relevant communication models that incorporated families and patient perspectives. This study un-packed the different aspects to consider when developing proper communication models and further highlighted issues to explore with families after receiving the results, with the hope that this information will help to inform genetic counselling sessions in places with high SCD burden.