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主要β-地中海贫血症列为优先事项。由于严重的β-地中海贫血症，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症预防项目”(PTPP)。PTPP的优先事项之一是促进级联筛查，即识别并向亲生亲属提供携带者检测，使他们能够在知情的情况下做出婚姻和生殖决定。然而，亲属对携带者筛查的接受率很低，我们的定性研究表明，亲属不太可能在知情的情况下决定拒绝携带者检测。因此，这个项目的目的是开发和评估对重型β地中海贫血儿童亲属(愿望)的决策支持干预的可接受性，以促进关于级联筛查的知情决策。在这个项目中，我们将通过与重型β地中海贫血儿童的父母和亲属以及PTPP中的卫生专业人员密切合作来发展这种愿望。这一愿望将被设计为支持关于层叠筛查的知情决策。它将包括对亲属的决策援助和对负责层叠筛查的PTPP专业人员(外地干事)的培训。这一愿望将在警察和警察部队外地官员的例行练习中进行测试。我们将探讨是否可行(I)培训PTPP外勤人员来实现这一愿望，(Ii)在常规实践中实现这一愿望是可行的，以及(Iii)患有严重β-地中海贫血症的儿童的父母和亲属以及PTPP外勤干事是否可以接受。我们将通过评估亲属是否对层叠筛查做出知情决定来评估意愿在未来项目(试验)中的影响。此外，为了支持(在巴基斯坦全国和其他中低收入国家)更广泛地落实这一愿望，我们将开发一个工具包，并通过一个链接到技术合作伙伴关系网站的网站提供该工具包。与我们之前在巴基斯坦的研究类似，我们将使用定性和定量相结合的方法来探索患有严重β-地中海贫血症的儿童的父母和亲属以及PTPP外地官员的意见。此外，在整个项目中，我们将通过“专家小组”会议与主要利益攸关方(例如，PTPP专业人员、政策制定者和巴基斯坦地中海贫血症协会非政府组织的代表)进行双向讨论，通过审查研究小组提出的愿望草案来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.