Manufacturers race toward the $1000 genome

Thanks to a steady stream of technology advances, the cost of DNA sequencing has plummeted in recent years. When it was first accomplished in 2001, the cost of sequencing the human genome was estimated at $3 billion, and it took more than a decade to complete with the traditional Sanger sequencing approach and automated capillary-based sequencing instruments. Today, many dream of being able to routinely sequence a person's entire genome for just $1000 in a matter of weeks or even days.

Thanks to a steady stream of technology advances, the cost of DNA sequencing has plummeted in recent years. When it was first accomplished in 2001, the cost of sequencing the human genome was estimated at $3 billion, and it took more than a decade to complete with the traditional Sanger sequencing approach and automated capillary-based sequencing instruments.1 While this was a phenomenal achievement with broad implications, it was clearly a long way from being a practical technique for disease diagnosis or drug development.

Today, many dream of being able to routinely sequence a person's entire genome for just $1000 in a matter of weeks or even days. Researchers and healthcare professionals alike believe that achieving this goal would "democratize" DNA sequencing and bring with it the anticipated health benefits of knowing someone's complete genetic makeup and the associated risks of disease and drug susceptibilities (see "$1000 genome disease scans now available to the public," p. 36).

The path to the $1000 genome and a possible new era of predictive and preventive medicine is being paved by the introduction of some dramatic new DNA sequencing technologies—notably massively parallel next-generation sequencing instruments. In fact, in 2007 the genome of Nobel Laureate James Watson—codiscoverer of the DNA double helix and father of the Human Genome Project—was sequenced in just two months at a cost of $2 million to $3 million using a massively parallel sequencing system.2

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