Sharif Saghira M, Blyth Moira, Ahmed Mushtaq, Sheridan Eamonn, Saltus Roiyah, Yu Juping, Tonkin Emma, Kirk Maggie
Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, UK.
J Genet Couns. 2020 Apr;29(2):282-292. doi: 10.1002/jgc4.1263.
Genomic knowledge and technology have developed rapidly over the last decade and increased our capabilities to diagnose and manage rare diseases. 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, have been available to participants of any ancestry but have been unsuccessful in recruiting diverse populations. The inclusion of diverse populations in exome and genome sequencing is important to ensure that clinical benefits of genomics advances are equally shared among all populations and to advance scientific knowledge. Our 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 diverse populations 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 Pakistani population in the UK, it is anticipated that the model would be broadly applicable to all underrepresented populations across the world.
在过去十年中，基因组知识和技术发展迅速，提高了我们诊断和管理罕见病的能力。然而，目前的基因组数据集缺乏种族多样性，因为许多基因组研究都集中在欧洲白人血统的参与者身上。像“发育障碍解读研究”这样的研究对任何血统的参与者都开放，但在招募多样化人群方面并不成功。将多样化人群纳入外显子组和基因组测序，对于确保基因组学进展带来的临床益处能在所有人群中平等分享以及推动科学知识发展至关重要。我们对英国巴基斯坦人群（约克郡和亨伯地区最大的少数民族，占人口的4.3%）的临床和研究经验，促进了一个创新的文化能力框架的发展，以加强在临床基因组研究和服务提供中纳入多样化人群。该框架的应用有可能指导医疗保健专业人员发展广泛的能力，使他们能够接受基因组学进展，从而改善所有患者的健康结果。这种实践模式将为精准医学提供信息，并改善多样化人群参与基因组研究的机会。尽管该模式基于在英国与巴基斯坦人群的合作，但预计它将广泛适用于世界各地所有代表性不足的人群。
