Improving Diversity in Genomics Research for Equity of Care

Addressing inequity in healthcare is a puzzle of a thousand pieces and requires collective and simultaneous action to make impactful change. This week we’re taking a brief dive into genomic research, what it means, why diversity is important, and how we can use impactful projects in genomics as a blueprint across research. ?

Genomics is the study of a genome, the complete set of DNA or building blocks that make a person, 3.2 billion letters of DNA containing around 20,000 genes. Genomic medicine uses information from genetic sequencing of a person’s genome to inform healthcare decisions, combining genomics with health to improve diagnosis, treatment and prevention. Genomic medicine is also essential for providing personalised healthcare and treatment. Whilst most of our genomes are identical, small differences make all of us unique. These differences can be influenced by our ancestral heritage, migration patterns, and environmental factors, occurring at different rates across a population.

Currently, there is an overrepresentation of people of European descent within genomic databases and medical research. This has led to misdiagnosis, inconsistent care delivery and contributed to the mistrust of healthcare by some communities and that ultimately, genomic medicine has not benefited everyone equally.

Exploring this topic, in July 2024 the NHS Race and Health Observatory and Nottingham University published a report ‘Ethnic Inequities In Genomics and Precision Medicine’, highlighting the underrepresentation of ethnic minority communities in genetic research and genomic datasets, and importantly providing recommendations to counter the effects this has on poorer health outcomes.

Building on the report’s recommendations, Genomics England recently launched a new project as part of their Diverse Data Initiative to improve the understanding of health conditions impacting Black communities in the UK. The Improving Black Health Outcomes BioResource (IBHO) project aims to improve equity in genomics research by reviewing approaches in conditions such as sickle cell, which predominantly affects the Black community, along with conditions such as diabetes and cardiovascular disease where worse outcomes are observed. In collaboration with the National Institute of Health Research (NIHR) BioResource and King’s College London, Genomics England aims to build a leading sickle cell genomics resource. A meaningful step towards better representation in genomics research.

This work in genomics acts as an idea blueprint for many research and healthcare fields in its aims to bring diversity to the starting line of data for research, which sows the seed for continued representative analysis and insights moving upwards until it reaches improved patient outcomes. Importantly, there are many reasons for underrepresentation in genomics research, for example historical injustice and experiences leading to mistrust, and every institution needs to prioritise exploring these unique inequities as a key milestone in understanding underserved communities and ensuring sustainable impacts through initiatives.

Additional Reading

• Genomics England, 2024a. Diverse Data: Equity in Health Research [WWW Document]. Genomics England. URL https://www.genomicsengland.co.uk/initiatives/diverse-data/equity-in-health-research (accessed 10.28.24).
• Genomics England, 2024b. Genomic Medicine [WWW Document]. Genomics England. URL https://www.genomicsengland.co.uk/genomic-medicine (accessed 11.14.24).
• Genomics England, 2024c. Launching the Improving Black Health Outcomes (IBHO) BioResource [WWW Document]. Genomics England. URL https://www.genomicsengland.co.uk/news/launching-the-improving-black-health-outcomes-ibho-bioresource (accessed 10.28.24).
• Genomics England, 2024d. Understanding genomics [WWW Document]. Genomics England. URL https://www.genomicsengland.co.uk/genomic-medicine/understanding-genomics (accessed 11.14.24).
• National Human Genome Research Institute, 2024. A Brief Guide to Genomics [WWW Document]. URL https://www.genome.gov/about-genomics/fact-sheets/A-Brief-Guide-to-Genomics (accessed 11.14.24).
• National Institute of Health Research (NIHR), 2024. NIHR BioResource [WWW Document]. URL https://bioresource.nihr.ac.uk/ (accessed 11.14.24).
• NHSRHO, 2024. New report reveals solutions to stark exclusion of ethnic minority communities in genetic research [WWW Document]. NHS Race and Health Observatory. URL https://www.nhsrho.org/news/new-report-reveals-solutions-to-stark-exclusion-of-ethnic-minority-communities-in-genetic-research/ (accessed 10.28.24).