Genetics is one of the most promising fields in scientific research today. Scientists’ capacity to capture information from the human genome grows every day with the hope that this information could help clinicians get to the bottom of causes and risks of disease.

Clinical interest in polygenic risk scores (PRS) — prediction of disease risk based on genetic data — has been increasing rapidly because of their demonstrated ability to identify those who may be vulnerable to certain diseases. Increased usage of PRS has the potential to identify and prevent disease, improve clinical care, and potentially decrease some healthcare costs.

Genetic testing and using PRS seem to provide valuable information to both clinicians and patients, but unfortunately, they are not benefitting all patients equally.

An Emphasis on European Ancestry

A team of Mass General researchers recently published a perspective piece in Nature Genetics that shed light on the fact that majority of publicly available genetic data belongs to people of European ancestry, meaning the medical advances made using European genetic data are less informative to non-Europeans.  

The UK Biobank is one of the largest public data sets available, containing information from almost half a million individuals. However, 94% of the information comes from people with European ancestry.

“From a clinical context, this means that current polygenic scores are significantly better in predicting the risk of common diseases for people of European ancestry than those of African ancestry,” says Alicia Martin, PhD, lead author of the study.

Researchers evaluated previous studies looking at genetic prediction accuracy across diverse populations and noted distinct disparities. Martin and her team found that prediction accuracy using the UK Biobank’s mostly European-derived data was significantly lower when compared to non-Europeans: 1.6 times lower in Hispanic/Latino Americans, 1.6 times lower in South Asians, 2.0 lower in East Asians and 4.5 times lower in Africans.

In contrast, the data researchers used from the BioBank Japan Project was almost 50% more accurate in predicting disease for East Asians than the UK Biobank data, which further confirms risk predictions made using genetic data from a similar ancestry yields more precise results, Martin says.

“It is crucial that researchers should recruit more minority populations in future genetic studies and also make data from such studies accessible and open. Failure to do this will lead to further inequities in our healthcare system.”

Alicia Martin, PhD

Why the Lack of Diversity?

The lack of diversity within publicly available data is due to a wide range of factors, and the state of diversity in genetics will not change overnight, but researchers are thinking of ways to broaden the current samples to include more diverse populations.

They hope to thoughtfully address, as opposed to accidentally contribute to, existing health disparities so that people of all backgrounds, not just Europeans, can benefit from the advances in genetics research.

“Though health disparities are currently related to social determinants of health rather than genetic testing, it will be important for the biomedical community to ensure that all ethnic groups have access to genetic risk prediction of comparable quality. This will require undertaking or expanding large genomic studies in non-European ethnic groups.”

Sekar Kathiresan, MD

About the Mass General Research Institute
Research at Massachusetts General Hospital is interwoven through more than 30 different departments, centers and institutes. Our research includes fundamental, lab-based science; clinical trials to test new drugs, devices and diagnostic tools; and community and population-based research to improve health outcomes across populations and eliminate disparities in care.
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