Pauline Ng expects a genome analysis to cost $500.

Pauline Ng is planning open source, open access analytics for the genomes to come.

By Allison Proffitt

August 2, 2011 | SINGAPORE—Pauline Ng’s office is the Genome building of the Biopolis science park in Singapore, a fitting home for one of the authors of the first published personal genome, that of J. Craig Venter, published in 2007 while Ng was a senior scientist at the J. Craig Venter Institute.

Now Ng leads an expanding group of three bioinformaticists (she’s hiring!) at the Genome Institute of Singapore (GIS). Before her stint at the Venter Institute, Ng worked for Illumina as well as the Fred Hutchinson Cancer Center in Seattle, where she wrote the powerful SIFT algorithm (http://sift-dna.org), a widely used tool to predict the effect of a given amino acid substitution on protein function. 

But sequencing and analysis—today at least—cost the same. “The problem is that right now, companies like Knome are actually charging the same amount for bioinformatics as they are for sequencing. If you sequence more individuals, I’d expect the bioinformatics to go down, but it’s the same price. That means the price is double! If we can make these tools online, accessible for free or at least at cost, I think I can get it to a tenth of the cost.”

Ng plans to do the computation on the Amazon Cloud and, at today’s rates, expects a genome analysis to cost $500. She hopes that these price points will enable doctors and individuals to use genomics. “If we could say, OK, outsource [the sequencing] to these companies. You’re going to get a hard disk. Mail it to Amazon and get your results in a week.”

Ng is not promising a magic cure, and doesn’t even think that this model should be the only one. She just hopes to drive prices down and open the market. “There’s never a guarantee of an answer,” she says. “Even with the software we write, there may not be a guarantee of an answer, but at least…” she pauses and begins again, emphatically. “We can definitely give you the basic annotation and provide the tools that everyone uses. And if it doesn’t work, then you go to an expensive company that really uses the same tools as the academics but with a couple of more bells and whistles. If you try our stuff first, at least you’ve invested only $500 instead of $5,000.” 

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