Abstract
This research was carried out in collaboration with The University of Leeds and Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust.Genomic knowledge and technology has developed rapidly over the last decade and increased our capabilities to diagnose rare diseases and offer precision medicine. The advent of exome and genome sequencing studies has allowed the identification of new disease-causing genes. However, current genomic datasets lack ethnic diversity as many genomic studies have focused on participants of white European ancestry. Studies, such as the Deciphering Developmental Disorders study, which were available to participants of any ancestry, were also unsuccessful in recruiting diverse populations. The inclusion of diverse populations in genomic research is important to ensure that clinical benefits of genomics advances are shared equally amongst all populations and to advance scientific knowledge.
The British Pakistani population is one of the major ethnic groups in the UK that has a high prevalence of undiagnosed autosomal recessive genetic disorders due to their cultural practice of consanguinity. Inclusion of this population in genomic research has both clinical and scientific imperatives. This portfolio presents my successful engagement and recruitment of the British Pakistanis in three large clinical genomic research projects,
which have made a significant contribution to genomic knowledge and patient care. Reflection and critical analysis of my clinical and research experience with the British Pakistani population (the largest ethnic minority in Yorkshire and Humber, accounting for 4.3% of the population) has fostered the development of an innovative cultural competence framework to enhance the inclusion of the British Pakistani population in clinical genomic
research and service provision.
The application of this framework has the potential to guide healthcare professionals to develop a wide range of competences, so they are ready to embrace genomic advances in order to improve health outcomes for all patients. This practice model will inform precision medicine and improve access of diverse populations to genomic studies. Although based upon work with the British Pakistani population in the UK, it is anticipated that the model would be broadly applicable to all underrepresented populations across the world.
| Date of Award | 2021 |
|---|---|
| Original language | English |
| Supervisor | Emma Tonkin (Supervisor), Roiyah Saltus (Supervisor) & Juping Yu (Supervisor) |