Data presented at annual American Society of Human Genetics meeting
Researchers from Invitae Corporation (NYSE: NVTA), one of the fastest growing genetics companies, will present findings showing proactive genetic testing identifies medically significant findings for 16.5 percent of healthy individuals. The data add to a growing body of evidence showing expanding clinical genetic testing to people without identified risks could be beneficial.
The platform presentation is among the company’s data being presented this week at The American Society of Human Genetics (ASHG) annual meeting in San Diego. An analysis of 1,828 patients tested with a clinical-grade genetic screening panel designed for healthy adults found clinically actionable results in 16.5 percent of patients, predominantly in genes associated with an elevated risk for cancer or cardiovascular disease.
“Healthy adults can use genetic information to better understand their risk of disease and these data show their interest is warranted. Nearly 1 in 6 people in this study exhibits a genetic variant for which medical management is warranted. We also have research showing current clinical guidelines on genetic testing do a poor job of ensuring people with medically relevant genetic variants are tested,” said Robert Nussbaum, M.D., chief medical officer of Invitae. “These and other studies paint a picture of underuse of genetic testing across broad groups of people who could benefit from it.”
When a person tests positive for a pathogenic or likely pathogenic variant, immediate family members are also at risk of being affected and could benefit from testing. Yet uptake of so-called “cascade testing” has remained low due to barriers to testing, including cost as well as awareness and understanding of hereditary disease. In a separate platform presentation at the meeting, Invitae researchers showed that providing follow-up cascade testing at no additional cost to immediate family members of all patients who receive a pathogenic or likely pathogenic result increased uptake of cascade family variant testing by 81 percent.
Proactive genetic testing offers healthy adults without a strong personal or family history of disease an opportunity to learn about how their genes could potentially impact their health and that of their family members.
Following are the company’s research to be presented at the meeting:
Wednesday, October 17
Poster presentation, 3pm PT:
Expanded genetic testing for primary immunodeficiencies: Findings from a 207-gene next-generation sequencing panel.
Presenter: Britt Johnson, Ph.D., FACMG
Platform presentation, 5:30pm PT:
A rigorous interlaboratory examination of the need to confirm NGS-detected variants in clinical genetic testing.
Presenter: Stephen Lincoln
Thursday, October 18
Poster presentation, 3pm PT:
Behind the SeizureTM: A no-cost, 125-gene epilepsy panel for pediatric seizure onset between 2 and 4 years.
Presenter: Swaroop Aradhya, Ph.D., FACMG
Saturday, October 20
Platform presentation, 8:45am PT:
Barriers to cascade testing: Impact on accessibility of a no-additional cost family genetic testing program for hereditary cancer risk.
Presenter: Ed Esplin, M.D., Ph.D., FACMG, FACP
Platform presentation, 11am PT:
Genetic testing for healthy individuals: A medically actionable panel finds a high positive rate for hereditary disease.
Presenter: Eden Haverfield, Ph.D., FACMG
Invitae Corporation (NYSE: NVTA) is a genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate most of the world's genetic tests into a single service with higher quality, faster turnaround time and lower prices.
Safe Harbor Statements
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the potential benefits of proactive genetic testing, the underuse of genetic testing in populations who could benefit from such testing, and the potential increase in uptake of “cascade testing” and potential associated benefits. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the applicability of clinic results to actual outcomes; the company’s history of losses; the company’s ability to compete; the company’s failure to manage growth effectively; the company’s need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company’s ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company’s business; and the other risks set forth in the company’s filings with the Securities and Exchange Commission, including the risks set forth in the company’s Quarterly Report on Form 10-Q for the quarter ended June 30, 2018. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.
Source: Invitae Corporation