Error Forces San Francisco's Invitae to Retest 50,000 Saliva Samples
September 15, 2017
By Alex Keown, BioSpace.com Breaking News Staff
SAN FRANCISCO – After discovering an error that generated false negatives, Invitae Corp., a company focused on genetic diagnostics, said it will have to re-examine 50,000 saliva samples to ensure patients have been provided correct diagnostic information.
According to reports, the error created a false negative for a genetic marker linked to hereditary colon cancer. The error was discovered after an Invitae client, a genetics counselor, noticed the error after a patient who had previously tested positive for the genetic mutation received a negative on the Invitae test, the San Francisco Chronicle reported.
At least two patients were provided with the false report, the Chronicle reported Thursday. A spokesperson for Invitae told the publication that the company does not expect more than 15 false negative results from the accident.
Although there are only 15 false negatives expected, the company will re-evaluate 50,000 samples. The company said the costs are negligible from a business perspective. Some samples may have to be recollected, said the publication.
“We take this very seriously,” Invitae spokesperson Kate McNeil told the Chronicle. “Within a matter of days, we were doing work to confirm what went wrong. We started to reach out to clients right away to indicate this was something we’re looking into.”
Invitae said the error occurred when the company made an adjustment to the test in order to detect other genetic traits. When the company made the adjustment it inadvertently left off the data allowing the test to detect the genetic marker for the hereditary colon cancer. The particular mutation is known as the Boland inversion. That particular mutation is linked to Lynch syndrome, also known as hereditary non-polyposis colorectal cancer. Lynch syndrome, according to Cancer.net, is associated with a genetic predisposition to different cancer types, meaning people with the mutation have a higher risk for certain types of cancers. Citing the National Institutes of Health, the Chronicle said Lynch Syndrome causes “between 3 percent and 5 percent of the 140,000 new cases of colon cancer diagnosed each year in the United States.”
The announcement of the error came about a month after Invitae exercised its M&A muscle and acquired two companies. Invitae acquired Good Start Genetics, a molecular diagnostics company focused on preimplantation and carrier screening for inherited disorders. The company also entered into an agreement to acquire CombiMatrix , a company which specializes in prenatal diagnosis, miscarriage analysis and pediatric developmental disorders. Invitae said the acquisitions will strengthen its position as a comprehensive provider of genetic information throughout every stage of life.
In June, Invitae acquired Ommdom Inc., which develops healthcare software, including CancerGene Connect, a platform used to manage genetic family histories.