Science of genome-sequencing has rocketed forward in 10 years

A decade after completion of the Human Genome Project on April 14, 2003, a top official of the National Institutes of Health surveyed the rarefied view from that mountaintop:

Admitting, "we have a long way to go to deliver on the promise of genomic medicine," Eric D. Green, director of the institute devoted to this research, still stressed that progress in some areas has been "amazing."

Scientists have obtained the full genetic script of a woman's unborn baby, and the federal government is already preparing for a future in which all babies will have their genomes sequenced at birth.

Doctors now know the genetic underpinnings of almost 5,000 rare diseases, more than twice as many as a decade ago.

We have learned that humans are more than 99.9% alike in their DNA, and yet so vast is the script - a sequence of almost 3.2 billion chemical bases - that our genome is "astonishing in the depth and breadth of its variation," Green said.

Researchers have also overturned a major foundation of genetics by showing that large portions of the script, up to 80% once dismissed as "junk DNA," actually turn out to have specific biological functions.

To a degree few had expected in the 1990s, the speed of genome sequencing has increased and the cost has dropped. Green pointed out that the first human genome took six to eight years to complete at a cost of roughly $1 billion. On the day it was finished in 2003, scientists were already able to sequence the second human in about three to four months at a cost of $30 million to $50 million.

Today, sequencing a genome takes just one or two days and costs about $5,000; what was once a national scientific quest is now well on its way to becoming a common procedure like an MRI.

And then there are the patients such as Wisconsin youngster Nic Volker, whose genes were sequenced in 2009 and used to diagnose and treat a disease that had never been seen before. Across the country, there has been just a trickle of similar success stories.

However, information from the genetic script is already allowing doctors to treat different cancers with greater precision. By sequencing cancer patients, doctors can figure out what medications will and will not work for them.

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Science of genome-sequencing has rocketed forward in 10 years