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

Lead Research Organisation: University of Leeds
Department Name: School of Medicine

Abstract

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.

Technical Summary

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.

Planned Impact

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.
 
Description Impact on the Punjab Thalassaemia Prevention Project
Geographic Reach Local/Municipal/Regional 
Policy Influence Type Influenced training of practitioners or researchers
 
Description International advisor on the Government's new 'Punjab Thalassaemia and other Genetic Conditions Prevention and Research Project' Task Force
Geographic Reach Local/Municipal/Regional 
Policy Influence Type Contribution to new or Improved professional practice
URL https://punjab.gov.pk/node/4698
 
Description UK-Pakistan collaboration: Fatima Jinnah Medical University (FJMU) 
Organisation Fatima Jinnah Medical University
Country Pakistan 
Sector Academic/University 
PI Contribution I have led the development of a research culture at FJMU by: securing a Memorandum of Understanding between the FJMU and the University of Leeds; leading the development of FJMU's research strategy, supporting the development of research capacity through the delivery of research workshops (e.g. 'publishing in international journals', 'integrating research into the medical curriculum', 'conducting qualitative research'), and leading the development of research grants with multidisciplinary research teams.
Collaborator Contribution FJMU's VC had provided support for the collaboration by promoting the Memorandum of Understanding between the FJMU and the University of Leeds; encouraging engagement by FJMU staff in the development of collaborative research projects, and their participation in the research workshops and seminars.
Impact A grant application on was made to the Global Alliance for Chronic Diseases on 'Improving family communication about 'breast cancer family history' to increase earlier diagnosis in high-risk relatives in Pakistan'. The multi-disciplinary team (co-applicants) included key FJMU staff from the Department of: Surgery (Breast Cancer), Diagnostic Radiology; and Clinical Oncology.
Start Year 2019
 
Title Decision Support Intervention for Relatives (DeSIRe) 
Description A paper-based decision support intervention for relatives DeSIRe has been developed in Urdu for use by healthcare professionals in face-to-face consultations to facilitate informed decisions about cascade screening for beta-thalassaemia major. The DeSIRe is also available in English. This was a developmental study, so the DeSIRe has been developed. Our qualitative research findings show that the DeSIRe is valued by both relatives an healthcare professionals, therefore, is appropriate for use in routine practice in a low-middle income country. The DeSIRe has the potential to facilitate shared decision making about cascade screening for thalassaemia, but further research is needed to evaluate the intervention and prove its efficacy. 
Type Preventative Intervention - Behavioural risk modification
Current Stage Of Development Initial development
Year Development Stage Completed 2021
Development Status On hold
Impact The Punjab Thalassaemia Prevention Project will collaborate on a research grant application to (i) evaluate the use of the intervention across the Punjab province of Pakistan, and (ii) to upscale and implement the intervention in the other provinces of Pakistan. 
 
Description 'Youth Time' radio show presentations 
Form Of Engagement Activity A broadcast e.g. TV/radio/film/podcast (other than news/press)
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Media (as a channel to the public)
Results and Impact Two radio interviews (in September and December 2021) were conducted with the researchers to raise awareness of beta-thalassaemia major, its prevention, and the development of the DeSIRe to facilitate informed decisions about cascade screening.
Year(s) Of Engagement Activity 2021
 
Description 14th National Thalassemia Conference and Workshop (Pakistan) 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Patients, carers and/or patient groups
Results and Impact This event was attended by approximately 250 people. Most of the audience included beta-thalassaemia patients and their parents/caregivers. The event was also attended by healthcare professionals and academics. The purpose of the presentation given at this event was to raise awareness of the developmental study.
Year(s) Of Engagement Activity 2019
 
Description 15th National Thalassemia Conference and Workshop (Pakistan) 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Patients, carers and/or patient groups
Results and Impact This event was attended by approximately 100 people in person and another 150 people online. Most of the audience included beta-thalassaemia patients and their parents/caregivers. The event was also attended by the Health Minister Punjab, healthcare professionals and academics. The purpose of the presentation given at this event was to report progress with the study and the development of an intervention to support relatives to make informed decisions about cascade screening for thalassaemia.
Year(s) Of Engagement Activity 2020
 
Description 16th National Thalassemia Conference and Workshop (Pakistan) 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Patients, carers and/or patient groups
Results and Impact This event was attended by approximately 100 people in person and another 200 people online. Most of the audience included beta-thalassaemia patients and their parents/caregivers. The event was also attended by the Health Minister Punjab, healthcare professionals and academics. The purpose of the presentation given at this event was to report the completion and availability of the intervention.
Year(s) Of Engagement Activity 2021
 
Description End of project dissemination workshops (Pakistan) 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Patients, carers and/or patient groups
Results and Impact A total of 6 workshops were held in the four provinces of Pakistan - Punjab (Lahore, Islamabad, Multan), Balochistan (Quetta), Sindh (Karachi), and Khyber Pakhtunkhwa
(Peshawar). These workshops were attended by a total of 428 invitees. Most of the attendees were beta-thalassaemia patients and their parents/caregivers, and relatives. The events were also attended by: NGO representatives for patients and careers of children with genetic conditions; clinical leads in the field; healthcare professionals (obstetricians and paediatricians); and academics. In addition, the event in Lahore was attended by the Health Minister Punjab (Professor Yasmin Rashid), and in Islamabad by the Parliamentary Secretary for Ministry of National Health Services (Dr Nausheen Hamid).

The workshops consisted of two parts: (i) presentations to raise awareness about the Punjab Thalassaemia Prevention Project and the development of the Decision Support Intervention for Relatives (DeSIRe), and (ii) facilitated audience discussion on how to (a) raise the profile of the prevention of beta-thalassaemia major in different provinces and (b) promote the adoption of the DeSIRe in all the provinces.

All the audiences were highly engaged in the discussion. The main points raised were the importance of:

• making the DeSIRe available to relatives via the thalassaemia NGOs, paramedical staff of thalassemia centres, and healthcare professionals, particularly general practitioners and paediatricians;
• translating the DeSIRe into various regional Pakistani languages such as Pashto, Balochi;
• engaging the state/policy makers from the health department in discussions about the prevention of ßeta-thalassemia major through the introduction similar intervention programmes in all provinces; and
• raising awareness about carrier screening for thalassaemia, particularly through its introduction into different levels of educational curriculum.

The events attended by the Health Minister Punjab (Lahore) and the Parliamentary Secretary (Islamabad) also had media coverage.
Year(s) Of Engagement Activity 2021
 
Description Expert Panel Meeting 1 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Patients, carers and/or patient groups
Results and Impact An expert panel was set up to meet three times during the study, to ensure the development of the intervention was informed by potential users. The expert panel included two parents and two relatives of children with beta-thalassaemia major (ß-TM), three field officers (who provide genetic counselling to relatives about cascade screening) from the Punjab Thalassaemia Prevention Project (PTPP), a member of the Thalassaemia Society Pakistan NGO, a genetic counsellor, a haematologist and an obstetrician (the latter two clinicians were also decision makers in the PTPP). All the expert panel meetings were held in Lahore, Pakistan and Chaired by a researcher.

In the first expert panel meeting, detail of the study were provided. Following this, the panel members expressed their views and opinions about the first draft of the 'Decision Support Intervention for Relatives' (DeSIRe). They suggested changes to the content and appearance of the DeSIRe. In particular, they focused language to simplify the content for individuals with little or no literacy skills, and encouraged the use of images to support explanation of the information. These suggestions were used to improve the DeSIRe. The expert panel believed the DeSIRe was an important intervention that would enable relatives to better understand ß-TM, its cause/inheritance and available options to prevent the condition. The parents and relatives were particularly enthusiastic about the development of this intervention.

As a result of the expert panel meeting, the attendees had:
• an understanding of the study aim;
• ownership of the DeSIRe through discussion of the draft intervention;
• input into the development of the DeSIRe; and
• bought into the study by agreeing that the development of the intervention was important and it would be valuable for the PTPP.
Year(s) Of Engagement Activity 2019
 
Description Expert Panel Meeting 2 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Patients, carers and/or patient groups
Results and Impact The second expert panel meeting held in Pakistan was attended by the individuals attending the first meeting, plus an additional parent and a relative. This meeting was held after substantial changes to the draft 'Decision Support Intervention for Relatives' (DeSIRe), based on the findings of the focus group study exploring healthcare professionals' and relatives' views about the intervention. The expert panel members were informed of the focus group study findings and the changes made to the DeSIRe based these. They were then asked to express their views and opinions about the second draft of the DeSIRe. They were also asked for their views on how best to use the DeSIRe in real clinical settings via the PTPP

The expert panel members agreed with the importance of the changes made to the DeSIRe. They also gave practical advice about the use of the DeSIRe in clinical practice. The expert panel members again expressed their views about the importance of developing this intervention to support relatives' decision-making about cascade screening.

As a result of this meeting, the expert panel members had an understanding of the focus group study findings and subsequent revisions, and continued ownership of the DeSIRe, i.e. through discussion of the changes made and any final edits, implementation plans, and recommendations for PTPP practice guidelines.
Year(s) Of Engagement Activity 2020
 
Description Expert Panel Meeting 3 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Patients, carers and/or patient groups
Results and Impact The third expert panel meeting was attended by the thirteen members who attended the second meeting. During the meeting, panel members were informed of the use of the DeSIRe by the PTPP field officers in real clinical settings, and the subsequent interview studies: (i) with relatives with which the DeSIRe has been used and (ii) with the field officers using the DeSIRe. They were presented with the findings of these studies.

The panel members discussed the study findings. They highlighted the importance of using the DeSIRe within the PTPP, and also suggested adopting it for public awareness about the condition. There was also discussion about the dissemination activities that should be conducted to raise awareness of the DeSIRe more widely in the Punjab province and also in the other provinces in Pakistan.

As a result of this meeting, the expert panel members had an understanding of users' experiences of the DeSIRe, hence the potential impact of the intervention. They also had continued ownership of the DeSIRe through discussion of: recommendations for PTPP practice guidelines; implications for policy and practice beyond the PTPP/Punjab; and
potential dissemination activities for the DeSIRe.
Year(s) Of Engagement Activity 2021
 
Description Media coverage of Health Minister Punjab and the Parliamentary Secretary Health's attendance at the Research Dissemination Workshops 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact The attendance of the Health Minister Punjab (Professor Yasmin Rashid) and the Parliamentary Secretary Health (Dr Nausheen Hamid) at the Research Dissemination Workshops in Lahore and Islamabad, respectively, attracted much media attention. Coverage of the workshops was made available to the general public via news channels, articles online and in newspapers. Online coverage included the following: https://www.thenews.com.pk/print/917993-better-awareness-stressed-for-thalassaemia-control; https://www.thenews.com.pk/print/916817-law-on-pre-marriage-thalassemia-test-soon-dr-yasmin; https://www.urdupoint.com/en/pakistan/minister-stresses-for-thalassemia-screening-b-1426920.html; https://pk.mashable.com/social-good/14154/thalassemia-testing-before-marriage-to-become-mandatory; https://pakistanreaders.net/punjab-govt-to-introduce-legislation-for-pre-marriage-thalassemia-test-soon/; https://hourstv.com/pakistan-thalassemia-tests-compulsory-before-marriage/; https://www.brecorder.com/news/40140186/punjab-to-introduce-law-on-pre-marriage-thalassemia-test-soon-minister; https://minutemirror.com.pk/punjab-all-set-to-introduce-law-on-pre-marriage-thalassemia-test-15676/
Year(s) Of Engagement Activity 2021