Studying genome sequencing of over 90-year-olds, centenarians

Studying genome sequencing of over 90-year-olds, centenarians

Dr Sridhar Sivasubbu, Scientist at the Institute for Genomics and Integrative Biology (IGIB), New Delhi, and his lab are deeply involved in human genome sequencing, which helps in use of personal genomes for precision medicine in humans.

They are undertaking an effort that was first launched in the United States in the 1980s, where the world’s biggest collaborative project in biology - the Human Genome Project (HGP) - was conceived. In 2003, the project was declared complete after the sequencing of the human genome, which has benefits in molecular medicine, energy and forensics. In an interview to Deccan Herald’s G N Prashanth, Dr Sivasubbu outlines IGIB’s and India’s journey in genome sequencing.

What is the status of genome sequencing in India? How far are we in this activity compared to the United States which has pioneered several genetic interventions?

Genome sequencing is being done in India by several Govt-funded institutes such as CSIR-IGIB Delhi, National Institute of Biomedical Genomics, Kalyani, National Institute of Plant Genome Research, Delhi, CSIR-Centre for Cellular and Molecular Biology, Hyderabad, Indian Council of Agricultural Research institutes and some private companies. Several genomes studies have been published from India.
What have been developments post-genome sequencing of a Jharkhand person, the first sequencing in India? Was there scepticism over the effectiveness of genome sequencing?

The whole genome sequence of an India male (individual) was successfully completed by CSIR-IGIB and the findings were published in a scientific journal. (Patowary et al 2012). The CSIR-IGIB also helped collaborators from countries such as Malaysia and Sri Lanka to successfully conduct whole genome sequencing and analysis of human samples from their respective countries. The findings from these studies have been published in scientific journals.

Could you outline the specific focus of IGIB in genome sequencing?

At CSIR-IGIB, we have initiated whole genome sequencing of individuals with higher lifespan from India. We are undertaking whole genome sequencing of self-declared healthy individuals over 91 years of age, including several centenarians. The analysis of the genome sequences may lead to the identification of genetic signatures associated with longevity. The genome sequences would also serve as a baseline for comparison and understanding the role of genomic variations in clinical conditions, disease association studies and pharmacogenomics among others.

Are genetic disorders too a major concern? There is no permanent cure of certain kinds of diseases? How does one address this?

At CSIR-IGIB, we have also initiated studies towards sequencing of humans with rare genetic disorders. For this, we have initiated a programme entitled “GUaRDIAN – Genomics for Understanding Rare Diseases India Alliance Network”. The GUaRDIAN programme aims to characterise rare genetic diseases in a systematic approach by integrating high-throughput sequencing, computational analysis and disease modelling. The aim is to mobilise a clinical network and a baseline infrastructure for direct implementation of genomics in clinical settings for precision and personalised medicine.

How much does genome sequencing cost in India, compared to, say, the United States? And where and whom should we approach to have our gene structure sequenced?

The cost of human genome sequencing is almost the same in India and USA. The cost ranges from Rs 80,000 to Rs 4 lakh depending on the approach and number of samples being sequenced. More the number of samples lesser will be the cost.

Several commercial companies specialising in genomics have operations in India. One could approach these companies for having their genomes sequenced. Some Indian companies are Indian Biosciences (genealogy, health, immigration paternity, relationships), Mapmygenome (health), Meragenome (health), X Code Life Sciences.
How far are we from medical applications of gene sequencing? Can we recommend people to go in for gene treatments in India?

Gene sequencing and genomics for medical application is already practiced in select hospitals in India. Reputed hospitals in Delhi and Mumbai are known to use genomics. Very big institutions, some of which I cannot mention, are using genomic strategies to understand and treat hereditary diseases. Other hospitals use genomics in fine-tuning cancer treatment and in profiling tumours. Genomics has also wide applications in pharmacogenomics for prescription of medicine.

Diagnosis is a major benefit - not just application of the medicine. We are aware of doctors using genomics to diagnose diseases like cancer and what are known as monogenic diseases and then prescribing medicine (Monogenic diseases could include Parkinson’s, Alzheimer’s and Lou Gehrig's disease (ALS), depression, schizophrenia, and cancer, Down Syndrome, Huntington’s Disease). Genomics has both a medical diagnostic and application utility and plays a big role in shaping and influencing prescriptions.

In terms of results, how has genomics performed? How have medical institutions adopted the genomics strategy?

The results of using genome sequencing have been positive. Had it not been the case, doctors would not have continued using and prescribing genomic strategies in medical treatment and prescription. I know of several doctors individually who are administering genome-based treatment and so far its been doing well. Institutions too are responding well, like I’ve mentioned above.

What are other collaborators in the genome sequencing project focussed on at IGIB?

Dr Vinod Scaria of IGIB is a key collaborator in the human genome sequencing activities. Dr Scaria is also deeply involved in the GUaRDIAN programme. In all the publications mentioned, both Dr Scaria and myself are joint corresponding authors.

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