Human genome mapping: Scientists question claim

BANGALORE - Sections of the Indian scientific community say the claims on mapping the genome of an Indian are vastly exaggerated though many agree it is a step forward.

Many scientists are also surprised that the Council for Scientific and Industrial Research (CSIR) opted to announce its research to journalists through parliament before first publishing its findings in a peer-reviewed journal as is customary.

Pushpa Bhargava, founder of the Centre for Cellular and Molecular Biology (CCMB) in Hyderabad, told IANS on telephone, “These are the sort of statements that will bring down the credibility of Indian science.”

“I was amused when I read the news reports that India has joined ‘elite’ league of countries like the US, Britain, Canada, China and (South) Korea.”

Science Minister Prithviraj Chavan said in parliament that India has made a “unique achievement” by sequencing the complete genome of an Indian. Chavan went further saying “medicines based on sequencing will prolong life by 30 years.”

At a press conference Tuesday, CSIR director general Samir Brahmachari announced that the sequencing feat by his scientists has “bridged the technology gap, setting the stage for affordable healthcare and predictive medicine, besides giving rise to possibilities in diagnostics, treatment and personalised medicine.”

Brahmachari did not reply to questions whether the quality and accuracy of the genome data generated by the CSIR was validated by independent scientists and why the work was announced to the lay press before being published in a science journal.

Scientists say sequencing is not a big deal considering that the service is now commercially available and anyone can have his or her genome sequenced for a fee. The human genome was sequenced and published seven years ago.

“You see companies advertising on the internet regularly and the costs are coming down rapidly,” a scientist at the Indian Institute of Science (IISc) in Bangalore told IANS, not wishing to be identified.

For instance, Silicon Valley based-US company Complete Genomics Inc. has sequenced and analyzed 14 complete human genome sequences this year and will be offering genome sequences for around $5,000 against the $30,000 the CSIR spent on sequencing one genome.

Cambridge (Massachusetts)-based company ‘Knome’ began offering whole-genome sequencing and analysis service for individuals as early as in 2007 starting with a batch of 20 clients.

Recently a US engineer, Stephen Quake, built a machine - called the Heliscope Single Molecule Sequencer - that can decode a human genome in four weeks with a staff of three people. He sequenced his own genome using his machine and published the results in the journal Nature Biotechnology.

“With good machines you can sequence the human genome in 10 days,” said D. Balasubramanian, a renowned biologist. It is an important work done by the CSIR but nothing very great, he said.

Some scientists are also amused by Chavan’s comparison of the CSIR work with India’s Chandrayaan-I mission to the moon.

“Our space scientists used their own rocket and satellite to go to the moon,” one of them said. “The technology used by the CSIR for sequencing was licensed from the UK company Illumina Cambridge Ltd (formerly Solexa Ltd) and not developed at the CSIR.”

G. Padmanabhan, a leading biochemist and former director of IISc, says the CSIR announcement could have waited until “something striking or unique” was found during analysis of data.

Not everyone is critical though.

“It (genome sequencing by the CSIR) is indeed a very significant event,” Raja Mugasimangalam, CEO of Bangalore-based Genotypic Technology (P) Ltd who had earlier collaborated with Brahmachari, told IANS.

“It is not a big jump for (Indian) mankind, but it is very important that we went ahead and did it early enough.”

Equally enthusiastic is Aravinda Chakravarti of Johns Hopkins University in the US and past president of the American Society of Human Genetics.

“It is good to see the progress to human genome sequencing in India and I am eagerly waiting to see the results published rapidly,” Chakravarti told IANS on e-mail. “However, we have a long way to go to catch up with the others.”

Chakravarti however said the claims by the CSIR on the health front are “exaggerated.”

“In the long term it is unknown whether healthcare costs will be reduced, but it’s always true that the more we understand (the genome) the better.”

One of the primary goals of the human genome sequencing has been to uncover the genetic roots of diseases like cancer and diabetes, but most of these diseases have turned out to be caused by a large number of genes and not a single gene.

The answer requires sequencing the genomes of many people, including patients suffering from specific diseases, says Padmanabhan. The CSIR’s plan to sequence the genome of just 10 individuals will not help in finding the risk markers for complex genetic diseases, he believes.

(Killugudi Jayaraman can be contacted at killugudi@hotmail.com)