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

Introduction Tanzania 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. Aim This 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. Methods In 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. Results Findings 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. Conclusion Understanding 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. ### Competing Interest Statement The authors have declared no competing interest. ### Funding Statement This study was funded by the Sickle Cell Programme at Muhimbili University of Health and Allied Sciences ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: Ethics Committee of Muhimbili University of Health and Allied Sciences gave ethical approval for this work I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines and uploaded the relevant EQUATOR Network research reporting checklist(s) and other pertinent material as supplementary files, if applicable. Yes All data produced in the present work are contained in the manuscript