Genome sequencing data to help in predictive & preventive medicine

Research laboratories working under the Council of Scientific and Industrial Research (CSIR) on Friday announced the completion of whole genome sequencing of 1,008 Indian individuals representing diverse ethnic groups in the country. The data will act as baseline information for developing various applications in predictive and preventive medicine.

The genomic data will help scientists understand the genetic diversity of the Indian population and make available genetic variant frequencies for clinical applications. The data and knowhow are expected to produce evidence and help in development of technologies for clinical and biomedical applications, scientists explained.

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The project called IndiGen was implemented by Delhi-based Institute of Genomics and Integrative Biology (IGIB) and Hyderabad-based Centre for Cellular and Molecular Biology (CCMB). The whole genome sequencing of individuals drawn from across the country has been completed, enabling benchmarking the scalability of genome sequencing and computational analysis at population scale, said Minster for Science and Technology Dr Harsh Vardhan, while making the announcement at an event in New Delhi.

Dr Harsh Vardhan said, “the genome data would be important for building the knowhow, baseline data and indigenous capacity in the emerging area of precision medicine.” He said the outcomes of the IndiGen would find applications in a number of areas including faster and more efficient diagnosis of rare genetic diseases. It will further lead to cost effective genetic tests, carrier screening applications for expectant couples, enabling efficient diagnosis of heritable cancers and pharmacogenetic tests to prevent adverse drug reactions are some of the other benefits of this initiative.

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Scientists have also developed IndiGenome card and a mobile application for researchers and clinicians to access clinically actionable information. The minister said that it will ensure privacy and data security, which is vital for personal genomics to be implemented on a large scale.

CSIR has been engaged in genomic studies in India and its ‘Indian Genome Variation’ has made major contributions in understanding the genetic makeup of the Indian population. It has also pioneered the application of genomics in clinical settings in the area of rare genetic diseases by means of DNA and genome based diagnostics and interaction with large number of clinical collaborators.

Dinesh Sharma is the Managing Editor of India Science Wire.

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