Cascade screening for beta-thalassemia in Pakistan: development, feasibility and acceptability of a decision support intervention for relatives

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.

Pakistani healthcare professionals’ perceptions of communication with patients and their relatives about hereditary breast cancer: a qualitative study in a LMIC

“…These findings highlight the need for developing accessible information resources, using plain language, to support communication with patients about HBC and its implications for relatives. Whilst resources have been developed for use in HICs, research is needed to co-develop similar resources locally with HCPs and BC patients with low literacy and for use in a context with limited access to genetic testing (van der Giessen et al 2021;Ahmed et al 2022). To further enable patient access, such information resources should be developed in written, audio, and video formats.…”

Cascade screening for beta-thalassaemia in Pakistan: relatives’ experiences of a decision support intervention in routine practice

“…The paper-based DeSIRe was developed in Urdu for use by FOs in face-to-face consultations to facilitate informed decisions about cascade screening. Details of how the DeSIRe was developed can be found elsewhere [12]. Our research shows that the use of the DeSIRe would be acceptable to relatives of children with β-TM, but paradoxically, they would prefer the use of directive language and images [12].…”

Identifying the current status and future needs of clinical, educational, and laboratory genetics services in Pakistan: a web-based panel discussion

“…Pakistan, a Muslim-majority country in South Asia with a population of over 220 million people (Population Fund UN 2022 ), has a well-documented incidence of genetic and hereditary disorders. Due to strong cultural, socio-economic, and religious reasons, the country has one of the highest rates of consanguinity in the world (~ 70%) thereby increasing the incidence of recessively inherited disorders, such as hemoglobinopathies, metabolic disorders, and other rare recessive conditions (Ahmed et al 2022 ; Ashfaq et al 2013 ; Hussain 1999 ). Additionally, while no official patient registries exist, the estimated carrier frequency for beta-thalassemia is approximately 5–7%, with 9 million carriers in the total population (Ahmed et al 2022 ).…”

“…Due to strong cultural, socio-economic, and religious reasons, the country has one of the highest rates of consanguinity in the world (~ 70%) thereby increasing the incidence of recessively inherited disorders, such as hemoglobinopathies, metabolic disorders, and other rare recessive conditions (Ahmed et al 2022 ; Ashfaq et al 2013 ; Hussain 1999 ). Additionally, while no official patient registries exist, the estimated carrier frequency for beta-thalassemia is approximately 5–7%, with 9 million carriers in the total population (Ahmed et al 2022 ). There is also a relatively high incidence of infant mortality, congenital birth defects, intellectual disability, bilateral hearing loss, and breast cancers (Gustavson 2007 ; Farooq et al 2011 ; Ashfaq et al 2013 ).…”