By Julia Karow
As the cost of human whole-genome sequencing declines, it is increasingly applied to study and diagnose disease. At the Consumer Genetics conference in Boston last week, Illumina CEO Jay Flatley made a number of predictions of where the technology and the consumer genetics industry are headed.
Sequencing will start to be applied clinically and save lives, which he said is "actually happening here and now," but will grow in the future.
Along with that, discoveries from genome research will accelerate, and in the next two to five years, scientists will know "by orders of magnitude more" about the biology of genomes.
Over the next three to six years, Flatley said, tumor samples will be sequenced "routinely" and tumor sequencing will become the standard of care. Within the next decade, cancer "will succumb to the kind of technology tools that we are talking about at this conference," which will "make a huge difference in patient care and save lives."
Infants will be screened "routinely" at birth using arrays within the next five years, he said, adding that "there is some reason for us to believe that arrays may be skipped and we may go right to sequencing," certainly by the end of the decade. Sequencing could potentially even be performed prenatally on fetal cells found in the mother's blood, although there are "questions around" how that data should be used.
Within the next couple of years, the governments of some "smaller nations," will start sequencing parts of their populations, and Illumina is already "in discussions" with such countries. They will include "regions like the Middle East," he said, where certain genetic diseases occur with higher frequency than elsewhere.
Genome sequences will become part of a patient's electronic medical record within five years or more, he said, adding, however, that he is "more pessimistic about this one."
In three to five years, the cost of whole-genome sequencing will fall to under $1,000, using "technology that we know about today," he said. "There is no invention required to get to the $1,000 genome." Another three to four years from there, the cost will go down to $500, he predicted.
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