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Cascade screening for beta-thalassemia in Pakistan: development, feasibility and acceptability of a decision support
Shenaz Ahmed1, Hussain Jafri2, Yasmin Rashid3
1Leeds Institute of Health Sciences, University of Leeds, Leeds, UK. s.ahmed@leeds.ac.uk.
Insights
A new decision support tool, DeSIRe, was developed to improve uptake of cascade screening for beta-thalassaemia Major (β-TM) in Pakistan. The tool was found acceptable and feasible, though cultural adaptation is needed.
Area of Science:
- Public Health
- Genetic Counseling
- Health Services Research
Background:
- The Punjab Thalassaemia Prevention Project (PTPP) in Pakistan aims to reduce beta-Thalassaemia Major (β-TM) through cascade screening of relatives.
- Low uptake of cascade screening presents a significant challenge to the PTPP's effectiveness.
- There is a need for culturally appropriate tools to support informed decision-making regarding genetic carrier testing.
Purpose of the Study:
- To develop a paper-based decision support intervention (DeSIRe) for relatives undergoing cascade screening for β-TM.
- To assess the feasibility and acceptability of the DeSIRe among healthcare professionals (HCPs) and relatives in Pakistan.
- To identify areas for improvement in the DeSIRe based on user feedback.
Main Methods:
- The DeSIRe intervention was developed adhering to the International Patient Decision Aids Standards and Ottawa Decision Support Framework.
- Twelve focus groups were conducted with 117 participants (60 HCPs, 57 relatives) across six cities in Pakistan.
- Thematic analysis was employed to analyze qualitative data from the focus groups.
Main Results:
- The DeSIRe was deemed acceptable and potentially feasible for supporting informed decisions about cascade screening.
- Participants provided suggestions for enhancing the DeSIRe, including refining language and incorporating information on consanguineous marriages.
- A cultural preference for more directive genetic counseling was noted, highlighting challenges in implementing Western models globally.
Conclusions:
- The DeSIRe shows promise as a tool to improve informed decision-making for cascade screening in the context of β-TM.
- Cultural adaptation and further refinement are necessary for the DeSIRe's successful implementation.
- Future research should evaluate the DeSIRe's effectiveness in routine practice and its impact on informed decision-making.
Abstract:
The government-funded 'Punjab Thalassaemia Prevention Project' (PTPP) in Pakistan includes cascade screening for biological relatives of children with beta-Thalassaemia Major (β-TM). However, there is low uptake of cascade screening. This paper presents the (i) development of a paper-based 'decision support intervention for relatives' (DeSIRe) to enable PTPP Field Officers to facilitate informed decision making about carrier testing, and (ii) assessment of the feasibility and acceptability of the DeSIRe. The intervention was developed using the International Patient Decision Aids Standards quality criteria and Ottawa Decision Support Framework. Twelve focus groups were conducted (September and October 2020) to explore the views of healthcare professionals (HCPs) and relatives of children with β-TM, in six cities. The focus groups were attended by 117 participants (60 HCPs and 57 relatives). Thematic analysis showed that the DeSIRe was considered acceptable for supporting relatives to make informed decisions about cascade screening, and potentially feasible for use in clinical practice. Suggestions for changing some words, the structure and adding information about how carrier testing relates to consanguineous marriages will enable further development of the DeSIRe. Participants generally welcomed the DeSIRe; however, they highlighted the perceived need to use more directive language, hence showed a cultural preference for directive genetic counselling. The findings highlight challenges for researchers using western theories, frameworks, policies and clinical guidelines to develop decision support interventions for implementation more globally. Future research is needed to evaluate the use of the DeSIRe in routine practice and whether it enables relatives to make informed decisions.
