From the first human genome, to a “great library of life”

Geneticist Eric S. Lander, one of the principal leaders of the Human Genome Project that mapped the entire human genome in 2003, offered a rare glimpse into the genetic “library of life” being created by a global community of scientists. This veritable catalogue has already begun to help decode the genetic basis of certain cancers, heart disease and schizophrenia.

A packed audience of students, scientists and medical practitioners heard Prof Lander speak on “The Human Genome and Beyond: A 35 year Journey of Genomic Medicine at the fifth edition of the Cell Press-TNQ Distinguished Lectureship Series at the All India Institute of Medical Sciences here on Monday.

Over the last decade, genetic research has been revolutionised and the costs of genome sequencing have dropped drastically. While mapping a single human genome (as part of the Human Genome Project 1990-2003) costs $3 billion, today it costs less than $ 3,000.

This breakthrough opens up enormous opportunities to understand diseases, he said. Today, for instance, over 108 genes can be associated with schizophrenia, and particular genetic mutations can be linked to heart attacks early in life.

And yet, “we have only scratched the surface,” Prof Lander said. “Discoveries require studying huge samples for every major disease. And for that our healthcare systems have to turn into learning systems.”

The Global Alliance for Genomics and Health comprising 246 organisations in 28 countries -- including India -- is one such endeavour to create a critical mass of data.

It is imperative, however that the data remains “shareable”, said Prof Lander, who is the Founding Director of the Broad Institute (linking MIT, Harvard University and hospitals).

“But genetic data must belong to patients, who have the right to share it with their privacy protected.”

India, with the “extraordinary size of its population” is, from the genetic point of view, “the single most interesting population in the world”.