Genetics

NIH Chief: Get Ready for Testing Whole Genome

Published: Oct 29, 2013

By David Pittman, Washington Correspondent, MedPage Today

WASHINGTON -- The medical community needs a plan for handling the fast-growing knowledge about the health risks identified through whole-genome sequencing, National Institutes of Health (NIH) Director Francis Collins, MD, PhD, said here Tuesday.
Science's ability to identify genomic mutations and link those with increased cancer risks is moving so fast that efforts to wrangle that knowledge today could be outdated tomorrow, Collins said at an event on personalized medicine sponsored by the American Association for Cancer Research and AdvaMedDx.
"I'm going to argue that we really need to have a plan about how we will handle that [information] when the preferred test is not this gene, plus that gene, plus the other gene, but is the whole genome," said Collins, a renowned geneticist who helped lead the Human Genome Project. "We are at an inflection point, and we ought to think very carefully about -- not today -- but 3 or 4 years from now about how we prepare for what's going to be extremely exciting."
The era of specific gene sequencing will be short-lived and be replaced by whole-genome sequencing, he predicted.
Collins noted it's pretty likely that within 3 to 4 years diagnostic tests will examine the entire genome as opposed to testing for one or two specific mutations. "If we try to focus too much of our efforts to fix things with intermediate technologies that are here today, then gone in 3 years, then we won't be able to be fully prepared for a more stable long-term situation," he said.
Collins suggested creating a clearinghouse of what tests are available and what their performance is like.
The NIH has been investing in the Genetic Testing Registry -- a central repository for voluntary submission of genetic test information by providers. Today, more than 12,000 tests exist for 3,600 conditions, covering 2,400 genes listed in the registry.
Academic institutions have not been very good about sharing information on what's known about the correlation between the genetic mutations and cancers, Collins continued.
"We would really like to be able to go to a clearinghouse where everything that's known about every gene in the genome was right there in front of you, so that if you found something, you could either say 'well, we don't know' or 'wow, this was identified in six other patients and they all had this disease,' " he said. "That we're not at. We need to get there."
Additionally, with all of the information that's being produced about cancer genomics, that information should be stored in an accessible electronic database "so that we can learn collectively from that information in a much more effective way than if it's packaged away in various inaccessible places."
"Seems like a critical need that we need to get to pretty quickly or we'll be sorry later because all these data sets will be in incompatible formats, and we won't be able to make much out of them without additional labor," Collins said. "That is something which we hope to see come forward by early next year."
Providers must also understand how to handle genetic information which may have nothing to do with the cancer or incident at hand, but comes from sequencing a person's entire genome, he suggested.
Collins called a Supreme Court decision from this summer that opened the door for further gene isolation "encouraging."
The Supreme Court ruled in June that whole genes such as BRCA1 and BRCA2 -- genes that raise a woman's risk of developing breast and ovarian cancer -- occur naturally and can't be patented.