Abstract

Precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person”. Efforts to implement precision medicine have gained traction in recent years due to significantly increased understanding of the role of genetic variations in human disease over the past decade. However, delivery of precision medicine requires robust population specific reference genome datasets for full appreciation of existing natural variation. The majority of publicly available genomic databases are primarily derived from Caucasian populations and do not fully address the diversity of Asian populations. In an effort to address this problem, we have aggregated and built a genomic database, ggcINDIA, specifically for South Asian populations. In collaboration with Global Alliance for Genomics and Health (GA4GH), we have made this database publicly available to the community through the GA4GH's Beacon project. ggcINDIA represents the first Beacon for South Asian populations. As more data is generated and aggregated, the ggcINDIA beacon will provide the precise genomic data that is critical to the delivery of precision medicine within South Asia.

Highlights

  • Generation sequencing and constant advances in the high throughput technologies as well as lab automation have made it possible to explore the vast variation that exists within the human genome [8, 14]

  • The correlation of genetic information with drug interactions as well as phenotypic and pathogenic traits has proven that healthcare can be improved by personalizing to ones characteristics and treatments [5]

  • Precision medicine is changing the dynamics of how healthcare is delivered

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Summary

Introduction

Generation sequencing and constant advances in the high throughput technologies as well as lab automation have made it possible to explore the vast variation that exists within the human genome [8, 14]. Variations in genes related to drug metabolism ( known as pharmacogenomics) such as CYP2C19, NAT2, etc. Treatment of melanoma with a somatic V600E variant in the BRAF gene, includes the use of selective BRAF inhibitors such as vemurafenib. Selective inhibition of BRAF results in a relative reduction of 63% in risk of death and 74% in risk of tumor progression [2]. These success stories have accelerated the move towards precision medicine, a disruptive model of healthcare delivery, where treatment is tailored to the individual’s characteristics, in most cases, the genetic or molecular information

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