Facing up to the genomic gap: Tackling equality and diversity in genomics

Professor Karoline Kuchenbaecker is Professor of Genetic Epidemiology at University College London where she leads the “Diversity in Genetics” group. Her research focusses on the genetic and environmental risk factors for diseases by leveraging the unique characteristics of diverse populations. She has developed methodological standards for diverse samples as well as innovative methods to empower locus discovery and to assess transferability of genetic risk factors.

Dr Maxine Mackintosh leads the Diverse Data at Genomics England, which aims to reduce health inequalities in genomic medicine by ensuring patients, regardless of their background, receive the same quality of genomics-enabled personalised medicine, supported by the latest research on people like them. Dr Mackintosh is also the co-founder of One HealthTech – a global, volunteer-led, grassroots community that supports and promotes under-represented groups in health innovation. OHT has over 20,000 contributors worldwide across 20 Hubs which have collectively delivered over 1000 events, projects, campaigns and initiatives improving diversity in HealthTech. She has been part of a number of communities and committees including being a Non-Executive Director for the Eastern Academic Health Science Network, a member of the World Economic Forum’s Global Shapers, and the British Computer Society (Health Exec) and the DeepMind Health Independent Review Board. She also really really likes fancy dress.

Dr Saghira Malik Sharif has worked for the Yorkshire Regional Genetics Service at the Leeds NHS trust since 2002 and is now a Principal Genetic Counsellor. Prior to this, Saghira was a genomic research fellow at the University of Leeds and recruited a large cohort of British Pakistanis in three genomic research projects. This research work led to the identification of novel pathogenic genes which have significantly contributed to patient care. The findings of these research projects has raised the profile of the Leeds Teaching Hospitals and the University of Leeds and they became the global leaders for offering autozygosity mapping studies, as well as furthering genomic and scientific knowledge.Saghira is one of the pioneers in developing a model of transcultural genetic counselling services in the UK.  Saghira has reflected upon her experience in prenatal genetics and genomic research for her PhD study and developed a novel cultural competence framework for healthcare professionals and organisations aiming to engage diverse communities in genomics studies. Saghira has been involved with the Born in Bradford programme and other Public Health England and Genomics England projects. Saghira’s international contribution has included working with the health leaders in developing a genomic education programme for healthcare professionals and setting up genetic counselling services in Pakistan and the Middle East. Saghira’s vision and drive has helped in developing healthcare policies and pathways, aiming to reduce health disparities and improving Equality, Inclusion and Diversity in genomics.