Research shows high positive rate for risk of hereditary disease in study of proactive genetic health screening for healthy people
Research shows high positive rate for risk of hereditary disease in study of proactive genetic health screening for healthy people -- Data presented at annual American Society of Human Genetics meeting -- |
[17-October-2018] |
SAN DIEGO, Oct. 17, 2018 /PRNewswire/ -- 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: Platform presentation, 5:30pm PT: Thursday, October 18 Poster presentation, 3pm PT: Saturday, October 20 Platform presentation, 8:45am PT: Platform presentation, 11am PT: About Invitae Safe Harbor Statements Contact:
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Company Codes: NYSE:NVTA |
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