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

世界卫生组织已将控制发展中国家的严重地中海贫血列为优先事项。由于乙型地中海贫血，巴基斯坦有巨大的经济和福利负担。为了解决这一负担，政府资助了省级“旁遮普省地中海贫血预防项目”（PTPP）。PTPP的优先事项之一是促进级联筛查，即识别并向生物亲属提供携带者检测，使他们能够做出明智的婚姻和生殖决定。然而，接受携带者筛查的亲属很低，我们的定性研究表明，亲属不太可能做出明智的决定，拒绝携带者检测。因此，本项目的目的是开发和评估重度β -地中海贫血儿童亲属（DeSIRe）决策支持干预的可接受性，以促进级联筛查的知情决策。在这个项目中，我们将通过与严重乙型地中海贫血儿童的父母和亲属以及太平洋伙伴关系中的卫生专业人员密切合作，发展愿望。DeSIRe将用于支持级联筛选的知情决策。它将包括为家属提供决策援助和培训负责级联筛查的PTPP专业人员（现场官员）。DeSIRe将由PTPP现场官员在日常实践中进行测试。我们将探讨以下方法是否可行：(i)培训PTPP现场官员提供DeSIRe， （ii）在日常实践中提供DeSIRe是否可行，以及（iii）严重-地中海贫血儿童的父母和亲属以及PTPP现场官员是否可以接受。我们将在未来的项目（试验）中通过评估亲属是否对级联筛查做出明智的决定来评估DeSIRe的影响。此外，为了支持更广泛地（在巴基斯坦全国和其他中低收入国家）实施《愿望》，我们将开发一个工具包，并通过与PTPP网站链接的网站提供该工具包。与我们之前在巴基斯坦进行的研究类似，我们将采用定性和定量相结合的方法来探讨重度乙型地中海贫血儿童的父母和亲属以及PTPP现场官员的观点。此外，在整个项目过程中，我们将通过“专家小组”会议与主要利益相关者（如PTPP专业人士、政策制定者和非政府组织巴基斯坦地中海贫血协会的代表）进行双向讨论，通过审查研究小组制定的愿望草案，指导干预措施的发展。

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.