Research
The institute is focusing on research as there is a dearth of research on prevention of genetic conditions in Pakistan. The research carried out in the institute shall help in generating local data, which will be helpful in making policy level interventions for the prevention of thalassaemia and other genetic conditions in Pakistan. Our publications are listed below:
- Supporting Relatives of Children with βeta Thalassaemia Major in Pakistan to Make Informed Decision about Cascade Screening
- Cascade Screening for βeta Thalassaemia in Pakistan: Relatives’ Experiences of a Decision Support Intervention in Routine Practice
- Cascade Screening for βeta Thalassemia in Pakistan: Development, Feasibility and Acceptability of a Decision Support Intervention for Relatives
- Six-year Experience of Prenatal Diagnosis for βeta Thalassemia in Twin Pregnancies and Selective Fetal Reduction - A Case Series
- Prevalence of βeta Thalassemia and Other Hemoglobinopathies - Carriers Status of Students in Educational Institutes of Central Punjab
- Prenatal Diagnosis of Thalassemia Major - An Effective Tool for Thalassaemia Prevention in Developing Countries like Pakistan
DeSIRe
The Punjab Thalassaemia and Other Genetic Disorder Prevention and Research Institute (PTGD) collaborated in a research project with the Medical Research Council UK. The research project entitled “Supporting Relatives of Children with βeta Thalassaemia Major in Pakistan to Make Informed Decision about Cascade Screening” aimed to develop and assess the acceptability of a decision support intervention for relatives (DeSIRe) of children with β Thalassaemia Major (β-TM) to facilitate informed decisions about carrier testing. The other collaborators for this research project included: University of Leeds UK, Fatimah Jinnah Medical University, Lahore Pakistan, Thalassaemia Society of Pakistan, and The Leeds Teaching Hospitals, NHS Trust.
As cascade screening for β-TM is one of the priorities of PTGD, caregivers of children with β-TM attending thalassaemia centers were contacted by PTGD Field Officers (FOs) to discuss carrier testing of relatives. Caregivers willing to support cascade screening then informed their relatives and set up individual or group meetings, who then provide the information by using the (DeSIRe) related to β-TM and genetic inheritance. The PTGD FOs offer carrier screening of β-TM. The FOs were also trained in a training workshop in which they were introduced to the concept of shared decision making and how to use the DeSIRe within routine practice. The findings revealed that the DeSIRe is an acceptable intervention for healthcare professionals in routine practice and can facilitate shared decision-making about cascade screening for β-TM.
Training
The PTGD is actively working on training and research on thalassaemia throughout Punjab. There is a lack of trained doctors and healthcare providers to diagnose and prevent thalassaemia and other genetic conditions in the country. The main reason for this shortage of trained manpower is the absence of proper training programs. Therefore, the PTGD is providing extensive training to healthcare providers in diagnosis and prevention of genetic conditions.
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