Mobile Menu

Increasing diversity in genomic studies: Success Stories and a Future Roadmap

This post was written by Vered Smith, Freelance Science Writer 

Increasing diversity in genomic studies: Success Stories and a Future Roadmap 

A group of scientists have charted a concrete roadmap to improve inclusion in genomic studies, to allow health benefits from genomic research to reach all populations. 

Current genomic data focuses mostly on European populations. Increasing the diversity of genomic studies is crucial to enhance clinical treatment for underrepresented groups and the global population as a whole. In a recent review in Nature Medicine, researchers analysed successful studies in underrepresented populations, and proposed a five-pillar roadmap to enhance inclusion in future studies.  

Successful Studies in Underrepresented Populations 

European and American scientists dominate genomic research because they have better funds and infrastructure, and are more advanced technologically. In contrast, low- and middle- income countries lack funds, a skilled workforce, and institutional capacity. Furthermore, some diverse communities have had negative experiences in healthcare, and past research abuse has led to a lack of trust and low enrolment in studies. However, there are several exceptions of genomic studies (some still ongoing) that have been very effective. The scientists analysed what made each of these diverse studies flourish and highlighted how to apply this to future studies. 


The Uganda Genome Resource is the largest genomic study of continental Africans. It was enabled through existing infrastructure in Uganda, collaboration with genomic centres in the UK, and strategic funding that included research capacity building. 

Another example from Africa is the Africa Wits-INDEPTH Partnership for Genomic Research, an NIH-funded cohort of 12,000 adults across Ghana, Burkina Faso, Kenya and South Africa.  Researchers used pre-existing resources from other studies (Health and Demographic Surveillance System centres, and Developmental Pathways for Health Research Unit), which represented a wide genetic variability. Sustained funding transformed it into a longitudinal study and allowed bioinformatic and genomic skills training to be given. 


The Pakistan Alliance on genetic RisK factors for Health (PARKH) is one of the largest genomic case-control studies, enrolling 30,000 psychiatric patients and 15,000 controls. The success of this study was based on local connections, cultural understanding, and knowledge of the administrative process. Collaboration between researchers in the UK and the US with researchers in Pakistan opened access to funding resources. Local investigators were also involved in study design, allowing factors relevant to the Pakistani population to be part of the data collection.  

Latin America 

The Latin American Genomics Consortium spans Puerto Rico, the US and eight Latin America countries, addressing psychiatric genetics.  There is ongoing research on how to analyse admixed ancestry to accurately stratify the population. 


The Tiwi Island Aboriginal population have participated in researching chronic conditions including kidney disease for over 30 years, even raising local financial support. Members of the community worked as staff in all projects within their community, providing an example of indigenous-led initiatives.  

Roadmap for Setting Up Diverse Trials Worldwide 

Based on the challenges and opportunities that occurred during these past studies, the scientists put together a roadmap to increase the diversity of genomic research. The key steps charted the way to sustainable and diverse studies through a global effort, and included five pillars: stakeholder will, infrastructure, strategic funding, capacity building, and global consortia.  

  1. Stakeholder will 

Research institutions must have a diverse workforce and support open access to study results. Researchers must develop genuine relationships with minority group communities, and research should focus on areas that can bring clinical benefit to the participants, to improve their engagement. Funders must promote research of underrepresented populations even though it requires more time and resources, and governments must institute policies enabling sustainable and diverse genetic studies. 

  1. Infrastructure 

Most of the above studies had pre-study consultation with legal experts, implementing material and data transfer agreements. Computing and biorepository infrastructure can be outsourced through local and international partnerships, but if set up at the institution could enable them to secure continued funding.  

  1. Strategic funding 

Funders should reconsider limiting funding to their own countries. Collaborations with international institutions and research-intensive nations are key for investigators to access funding.  

  1. Capacity building 

Education models to train individuals, such as exchange programs, are key for long-term research. For example, the PARKH study supports researchers to train in laboratories in the US and Canada, and then return to their home institution. 

  1. Global consortia 

Contributing genomics data from underrepresented populations to global genetics consortia so that they are representative of diverse populations is important. This enables discovery of ancestry-specific findings, spreads the findings to a broader audience, and improves the careers of local investigators.  


Successful studies have demonstrated that it is possible to carry out research within diverse and underrepresented populations. Going forward, a global effort is needed to further address the imbalance in study representation. Following this roadmap to set up studies that promote genomic equity can help bring the clinical use of genomic medicine to people of all ancestries. 

Image Credit: Canva

More on these topics