The Indo-US workshop on Human Diversity and Health Disparities, held on 16 – 18 January, 2020, at Centre for Cellular and Molecular Biology (CCMB), Hyderabad, saw about 30 speakers working in the various areas of population genetics come together to discuss the genetic variations that give rise to health disparities in different populations. 

This conference was jointly organized by K Thangaraj, Chief Scientist, CCMB, Hyderabad and Keshav K Singh, Director of the Cancer Genetics, University of Alabama, Birmingham. The purpose of this workshop was to connect researchers and create a comprehensive understanding of how racial and ethnic diversity contributes to disparities in the prevalence and etiology of various diseases.

Analabha Basu, National Institute of Biomedical Genomics, Kalyani, remarked that the Genome Asia 100K Project, which will enable genetic discoveries across Asia, will focus on cohort studies in medical genetics in its next phase, enabling researchers to come up with targeted drugs that are effective for specific populations, e.g. Indian or European. 

Vinod Scaria, Institute of Genomics and Integrative Biology, Delhi, has been working on the IndiGen program in association with other genomics labs in India. In this program, 1000 Indian genomes will be sequenced, representing individuals from diverse ethnic groups in India. This would help in identifying genetic variations in different ethnicities allowing more effective drug screening and reducing the risk of side effects. 

One session was devoted to discussing genetic studies of rare neurological disorders like hot water epilepsy. Hot water epilepsy is a disease in which children exhibit epileptic episodes when they come in contact with lukewarm water. Anuranjan Anand, Jawaharlal Nehru Centre for Advanced Scientific Research (JNCASR), Bangalore, whose lab studies genetic mutations that can cause this curious disease, explained how unrelated gene mutations were found in different patients, making it all the more difficult to design drugs for this rare disorder. 

India is the world capital for diabetes and low-birthweight in newborns. G R Chandak, CCMB, Hyderabad, shed light on how genetics can explain the ​“Thin-Fat Indian” phenomenon. This phenomenon refers to Indian patients who have diabetes and cholesterol-related problems (“fat”) without exhibiting obesity (“thin”). Researchers have shown specific genetic signatures in Indians that are responsible for this phenomenon. These studies show obesity is not a prerequisite for diabetes in India, unlike in many western countries.

Chandak also explained how maternal nutrition plays an important role in determining insulin resistance in adulthood for the child. His research has shown that B12 deficiency in pregnant mothers can cause a higher rate of obesity and insulin resistance in their children later in life.

A session on breast cancer revealed interesting insights into how the aggressiveness of breast cancer can differ in different racial populations. ​“Three out of ten Indian women are affected by the aggressive Triple Negative Breast Cancer (TNBC),” said Ritu Taneja, Georgia State University, USA, pointing out uncanny similarities between African-American and Indian women in TNBC epidemiology. 

Brittany Davis Lynn, National Institutes of Health (NIH), USA, explained how ethnic and racial variations contribute to the risk of breast cancer incidence. For e.g. non-Hispanic black women are found to be more susceptible to breast cancer than Hispanic black women. Differences in metabolic pathways could also contribute to the health disparities observed in breast cancer patients, remarked Arun Sreekumar, Baylor College of Medicine, USA, who is studying metabolic profiling in African American women.

In a series of talks about genomics-based companies, Malali Gowda, Director, Bengaluru Genomics Centre, presented his novel HLA-Typing Technology that can carry out genetic testing on human saliva samples to efficiently find compatible donors for organ transplant. 

Human-microbiome interactions have recently surfaced as an important player in human diseases. ​“Microbiome” refers to all the microbes that live on and inside the human body and recent research has shown that the microbiome influences disease etiology and could also account for disparities in health. In relation to this, Amit Dutt, Advanced Centre for Treatment, Research and Education in Cancer (ACTREC), Mumbai, explained how his team has developed a computational tool to detect bacterial sequences in human clinical cancer samples. For example, genomic data in patients with gallbladder cancer showed evidence of non-typhoidal Salmonella. 

Aruni Wilson, Sathyabama University, Chennai, also spoke about human-microbiome interactions as causative factors for many diseases. For example, P. gingivalis, the bacteria responsible for gum infections, can also cause Rheumatoid Arthritis, due to its ability to elicit an unwanted immune response. Such findings can help researchers test if regulating the microbiome can effectively prevent, treat, or provide a better prognosis for various inflammatory diseases.

This workshop touched upon many aspects of genetic disparities and their effect on human health and disease in South Asian and US populations. ​“We can now say that people with different genetic variations show variable responses to drugs. Future treatment would be focused on drugs that work on particular genetic population, paving the way for personalized medicine,” said Thangaraj.