Many people have observed over the last two or three years that the great era of genomic medicine has been awfully slow to arrive. Former President Clinton unveiled the first human genome more than a decade ago, as these critics have pointed out. Where are our personalized pills? For these pundits, it has been like waiting for the cable guy to show up.
Now, according to Francis Collins and Craig Venter, the dawn of genomic medicine is arriving, Julie Steenhuysen reports for Reuters.
"We are at an inflection point" brought about in large part by the plummeting cost of genome sequencing and the layering on of new discoveries, Collins says.
Venter says genomics is "just on the threshold" of delivering results, and his new Human Longevity company is taking advantage of cheaper sequencing to sequence thousands of genomes and match it with clinical data to develop new treatments and extend human lives.
Illumina CEO Jay Flatley adds that the surface of the human genome has only now been scratched, and that now it is time to "get hundreds of thousands to millions of genomes in databases with clinical information."
Steenhuysen offers some examples of how the genome is now being used to develop new treatments.
For example, take University of Chicago's Elizabeth McNally, who has been looking for genes linked to heart and muscle problems and found a mutation in the Laming gene that causes Limb-girdle muscular dystrophy and electrical disturbances of the heart. McNally used her discovery to decide that one of her patients, Jean Sambrookes, needed to replace her pacemaker with an implantable cardiac defibrillator, a move that turned out to be a lifesaver.
Sambrookes' heart stopped three times last August, but her defibrillator jolted her back to life each time.
"She literally tried to die three times, McNally says. "It still takes my breath away."