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

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.

The World Health Organization has designated the control of B-thalassemia Major (B-TM) in developing countries a priority. B-TM is the most common genetic disorder in Pakistan, with about 40,000 children registered as transfusion-dependent and 5,000 to 9,000 children born annually with the condition. To control B-TM in the Punjab province, the government has funded the 'Punjab Thalassaemia Prevention Project' (PTPP), where Field Officers (FOs) are required to facilitate cascade screening - identify and offer carrier testing to biological relatives. Yet the uptake of carrier testing by relatives is low and our qualitative research shows relatives are unlikely to be making informed decision to decline testing. The aim of this study is to develop and assess the acceptability of a decision support intervention for relatives (DeSIRe) of children with B-TM to facilitate informed decision-making about cascade screening. Such decisions are important to inform subsequent marital and reproductive options, particularly in a population practicing consanguineous marriages.

We will work closely with parents and relatives of children with B-TM and FOs to develop the DeSIRe, which will include a decision aid for relatives and training for PTPP FOs. To develop the DeSIRe, we will follow the UK Medical Research Council framework for developing complex interventions and the International Patient Decision Aids guideline. We will use the Ottawa Decision Support Framework as the conceptual framework to underpin our study. To ensure its acceptability and feasibility, the DeSIRe will be tested within routine PTPP pathways. The effectiveness of the DeSIRe will be evaluated in a future trial. Our study is aligned with current government health priorities in Pakistan and the PTPP's clinical priorities. The outputs will also be of value to similar potential Government funded programmes, both in other provinces in Pakistan and other lower-middle income countries.

Our research will provide insight into users views on how to support relatives of children with beta-thalassaemia major to make informed decisions about cascade screening. The main objective of our research is to develop a decision support intervention for relatives in the Punjab province of Pakistan. So beneficiaries include:

1) relatives of children with beta-thalassemia major: based on our previous research, relatives will be better supported in decision-making if PTPP field officers adapt a decision support intervention, enabling relatives to make informed decision about cascade screening;

2) PTPP field officers who facilitate decision-making about cascade screening, but also healthcare professionals in other countries, including Western countries, working with populations practicing consanguineous marriages. These professionals will benefit from practical guidance (the output of the proposed research) on how to facilitate informed decision-making for cascade screening;

3) third sector organisation: charities/NGOs representing the interests of parents of children with beta-thalassaemia major will benefit from the opportunity to represent their perspectives to inform the development of the intervention and training for healthcare professionals; and

4) local and regional government agencies, including those engaged in policy making, such as, policy makers responsible for funding the PTPP and their equivalents in (i) other regions of Pakistan and (ii) in other low-middle-income countries, will be able to use the research to ensure evidence based practice when implementing similar prevention programmes.

Our research team has expertise in working with the healthcare professionals, academics from diverse disciplines, third sector partners and government agencies listed above. For example, M Ahmed, SH Jafri and Y Rashid have led delivery of antenatal/genetic screening services, including training for healthcare professionals. As co-investigators, they are beneficiaries already engaged in the research. Non-academic key beneficiaries include programme prevention service leads for genetic services and NGO representatives.