Supporting relatives of children with Beta-thalassemia major in Pakistan to make informed decision about cascade screening

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The World Health Organization has designated the control of beta-thalassaemia major in developing countries a priority. Pakistan has a huge economic and welfare burden due to beta-thalassaemia major. To address this burden, the government funded the provincial 'Punjab Thalassaemia Prevention Project' (PTPP). One of the priorities of the PTPP is to facilitate cascade screening, that is, identify and offer carrier testing to biological relatives to enable them to make informed marital and reproductive decisions. However, the uptake of carrier screening by relatives is low and our qualitative research shows that relatives are unlikely to be making informed decision to decline carrier testing. Therefore, the aim of this project is to develop and assess the acceptability of a decision support intervention for relatives (DeSIRe) of children with beta-thalassemia major to facilitate informed decision-making about cascade screening.In this project, we will develop the DeSIRe by working closely with parents and relatives of children with beta-thalassaemia major and health professionals in the PTPP. The DeSIRe will be designed to support informed decision-making about cascade screening. It will include a decision aid for relatives and training for the PTPP professionals responsible for cascade screening (field officers). The DeSIRe will be tested within routine practice by PTPP field officers. We will explore if it is (i) feasible to train PTPP field officers to deliver the DeSIRe, (ii) feasible to deliver the DeSIRe in routine practice and (iii) acceptable to parents and relatives of children with beta-thalassaemia major, and PTPP field officers. We will evaluate the impact of the DeSIRe in a future project (trial) by assessing if relatives are making informed decisions about cascade screening. Furthermore, to support the implementation of the DeSIRe more widely (nationally in Pakistan and in other low-middle-income countries), we will develop a toolkit and make this available via a website linked to the PTPP website. Similar to our previous research in Pakistan, we will use a combination of qualitative and quantitative methods to explore the views of parents and relatives of children with beta-thalassaemia major and PTPP field officers. Also, throughout the project, we will engage in two-way discussions with key stakeholders (e.g. PTPP professionals, policy makers, and representatives of the Thalassaemia Society Pakistan NGO) via 'expert panel' meetings to guide the development of the intervention by reviewing drafts of the DeSIRe produced by the research team.