Enhancing inclusion of diverse populations in genomics: A competence framework

Abstract

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.

Public engagement with genomics

“…Also in the US, African Americans have expressed concerns that genetic tests will not be accurate for them, while indigenous peoples have expressed reluctance to participate in genomic research because of their fears around the potential for the commodification of drugs based on their genomic data 35 , 53 . Similar findings have been reported in the UK, where self-identified Black Caribbean and Black African members of the public have expressed suspicion and mistrust of the 100,000 Genomes project 1 and members of the Pakistani community have been identified as having a fear of genomic information and mistrust of genomic research 62 .…”

Fine-scale population structure and demographic history of British Pakistanis

“…Our findings motivate a search for recessive disease-causing founder variants in particular biraderi groups, the discovery of which would enable carrier and/or prenatal testing for variants causing severe disorders. A culturally competent approach and sensitive communication strategy will be required to carry out such research and to translate these results into health education and clinical practice, in order to maximise patient benefits and to ensure all groups are well informed and empowered to make informed decisions regarding their marriage choices 64 . A joint clinical and social science approach alongside a community engagement programme would help to build trust within the British Pakistani population, improve access to genomic medicine services and provide a means to reduce health disparities.…”

‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service

“…To meet the individual needs of parents who will have different levels of education and who may better understand their testing options in their native language, an adaptive and culturally sensitive approach to counselling is needed. Consideration of practice models to support cultural competency in genomics 38 and the recruitment of professionals who speak languages prevalent in the local community will facilitate support for more parents. Furthermore, presenting information about pES in alternative formats should be considered; this could include web‐based decision aids, which have been shown to be successful for other prenatal tests, 39,40 or an animation or video, which has been well received by patients offered genomic tests in other settings 41,42 …”