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Accuracy, Cost, Oversight Key Questions In Genetic Sequencing Clinical Application

Publication Date: 
October 07, 2013
BioTech Watch - BNA
Joyce Cutler

Stanford Law Professor Hank Greely is quoted by BioTech Watch's Joyce E. Cutler on the complications of widespread genetic testing.

Privacy is a much smaller problem with genetic testing than the accuracy and regulation of devices performing the sequencing and those interpreting the results, a Stanford University genetics and law professor said.

Gene sequencing in the next decade will become a common component of individual electronic health records as the price drops to $500 as soon as 2015, giving rise to a host of regulatory, legal, education and other questions, said Hank Greely, Stanford University professor of law and genetics and chairman of California's Human Stem Cell Research Advisory Committee.

Analytic validity and just how good the sequencing is are major questions, Greely told the Burrill & Co. personalized medicine meeting in San Francisco. “We need to know that these are going to be good, and I think we're going to need some significant regulation of them,”he said Oct. 1.

Sequencing machines when used for clinical purposes are class III devices and need to be regulated by the Food and Drug Administration through a premarket approval process, Greely said. A 510(k) premarket notification submission “is not really a good idea for next-generation sequencing for new technologies” when proof is needed about accuracy and copying variation, among other areas.

“And ultimately what we will need is not a super machine but a set of protocols,” Greely said.


Accuracy “is going to be critical. I think the FDA is going to have to take a role. I think the College of American Pathologists and CLIA [the Clinical Laboratory Improvement Amendments] are going to have to get involved,” Greely said.

CLIA is administered jointly by the Centers for Disease Control and Prevention, the FDA and the Centers for Medicare & Medicaid Services, although in many cases CAP certification plays an important role in CLIA compliance, Greely said Oct. 3 in an e-mail to Bloomberg BNA.

“I think although the privacy issues are important and interesting, they're not nearly the most important and interesting ethical, legal, social issues being raised by these advances in genomic medicine over the next five, 10 or 15 years.”


Greely said he doesn't “think it's likely to lead to that many treatments in the short term. But in the longer term, it will lead to treatments, and in the short term, it will give parents some certainty about what's happening, some answers and an end to the diagnostic odyssey that rips families apart and also some good advice about their chances of having another child with the same condition.”

Cancer patients get their exomes, selective parts of their genome, sequenced to get a better idea of what drugs might help. “And that's relatively common now at 20 or 30 institutions around the country, and it's going to become even more” common, Greely said.


Greely said part of him thinks the FDA should regulate these procedures and part says it is too complicated even for the FDA. “This is going to be a real challenge. No matter how accurate your sequence is, if the interpretation isn't good, the sequence is useless, or worse than useless.”

Another challenge is how to educate doctors about genomics. “Even if the doctors know, how are they going to educate the patients?” Greely said.