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A First Critique Of My DNA Sequencing Story

This article is more than 10 years old.

A truly thought-provoking response to my DNA sequencing article – a profile of Jonathan Rothberg of Life Technologies – just came in. The sender is Michael R. Schuppenhauer, a former senior editor at BioCentury. The basic thrust: whatever I know about biology, I don't know much about history.

Matt,

I truly appreciate you bringing this topic to the front or rather keeping it (personalized genomics/medicine) on the front ten years after Roche declared it to be the future.

Having met Jonathan then, I continue to be impressed with his drive for innovation, but am also aware of his salesmanship - legendary in the industry. CuraGen is a case in point.

I am somewhat surprised that the early players in the gene sequencing market, like Perkin-Elmer, Agilent, HP, Applied BioSystems etc. do not feature in the article at all, they provided the machines to complete the first ever genome in 2000. Also Affymetrix and Steve Fodor, which owns the GeneChip (sic!), invented the concept, and gave rise to Flatley and Illumina is glaringly absent, as if none of it ever existed.

Agilent and Fluidigm pioneered microfluidics. Both play in sequencing.

A minor issue I have with the "high-school" biology reference. If a reader would remember the size of the genome he would have to be younger than 17 years plus time lapsed since publication in 2000. 27 probably is not the core audience of Forbes. I may be wrong.

While the 100bn number is catchy and speculative, the true issue with it is: Where do we take the money from to pay for an increase in diagnostic cost by an order of magnitude? Some one has to give. Yet the society seems to be at breaking point with the cost of it's current healthcare system, declared unsustainable at the current rate. Note that wealthy Switzerland just ruled that it will not pay for orphan drugs exceeding $100,000 per QALY. I am hence not sure there is an actual payor in sight for this "market".

Finally, to quote George Scangos from the 2001 H&Q conference (as he paraphrased Monty Python) "it is not the words that matter, it is the order." The genome is merely an accumulation of letters, if we do not understand how they form words, how those words form sentences, what grammar rules apply, we do not understand the function and effect of the language. There orders of magnitude more proteins than genes that form them, one gene has multiple functions, dependent on time and circumstances. Currently it is the lack of this functional knowledge, not static genomics, that leaves the promise of personalized medicine unfulfilled.

CuraGen had made promises on obesity and cancer which still await to be fulfilled, such as a 1.5bn deal with Bayer.

Best regards,

Michael R. Schuppenhauer, Ph.D.

These are valid points. I think the potential of the technology is important enough that we will wind up paying for it. Business magazine articles, by their nature, tend to focus on the current players, not the past ones. For those who have not been following this space for years: What is now known as Life Technologies was once Applied Biosystems, one of the companies mentioned in Schuppenhauer's letter.

There are a lot of issues to tangle through here -- and I'll be wading through them all next week.