Study of Genes in Asian Populations to Reduce Care Disparities

January 29, 2020 - A team from the University of Virginia (UVA), together with researchers from dozens of institutions around the world, will address and reduce care disparities by sequencing the genes of people across Asia.

The GenomeAsia100K Consortium has already examined the genes of 1,739 people from 219 different population groups in 64 countries across Asia. The ultimate goal is to sequence the genes of 100,000 people across Asia, producing a repository of genetic information that will help researchers and providers better understand and treat genetic disorders, identify those at risk, and predict how people will respond to drugs.

Natural gene mutations exist among and between different populations, which partly explains why certain populations of different ancestry seem to have a greater risk of certain diseases. The group has published its early findings in the journal Nature, highlighting the importance of studying non-European populations in genetic studies.

“In our new paper, we talk about MODY, which refers to maturity-onset diabetes of the young. This is a rarer type of diabetes that usually develops before the age of 25, and often you do not require insulin,” said researcher Aakrosh Ratan, PhD, of UVA’s Department of Public Health Sciences and the Center for Public Health Genomics.

“What we showed was that if doctors wanted to treat patients in India with the disease, they would greatly benefit from having information about genetic mutations found in Indian populations to identify the genetic differences that could be causing the disease. If you only look in databases that contain mutation data from European individuals, you are more likely to see false-positive results, and you will find it harder to pinpoint the exact gene causing the disease.”

Building detailed reference databases for Asian populations will benefit medical genetics for all populations, researchers noted, but the project will especially boost efforts to understand rare diseases in Asia.

“Under-representation of Asian populations in genetic studies has meant that medical relevance for more than half of the human population is reduced,” said Ratan.

“The main goal of the project is to increase the number of people included in these genetic studies, primarily to boost our knowledge about medical genetics but also to understand human migration and human origins.”

In addition to helping researchers better understand the causes of disease, the research project will help providers better care for their patients. Certain groups may be more prone to an adverse reaction to a particular drug and identifying the genes responsible could help doctors know which patients should not receive that drug.

“We also studied the genetic differences associated with an adverse reaction to several common drugs and were able to identify Asian populations that showed large variation in their response,” Ratan said. “These reference databases are vital to predict or understand why some drugs should not be dispensed in certain dosages to people of certain populations.”

With this research, the team expects to improve outcomes and facilitate better understanding of conditions that impact Asian populations.

“I am excited that sequences from several Asian populations will become available as a result of this project,” Ratan said.

The GenomeAsia100K Consortium will help reduce care disparities for Asian populations and other minority populations.

“Understanding the genetic basis of human disease will benefit from an increase in the number and scale of disease-association studies that are carried out in Asian populations,” researchers concluded.

“In the pilot phase of the GenomeAsia project, the sample set that we analysed allowed us to address a wide range of questions regarding the history of specific Asian population groups and to map out strategies for additional sequencing efforts.”