Northwestern University and Invitae Present New Research Highlighting the Importance of Genetic Testing for Cardiovascular Conditions at the American Heart Association Scientific Sessions

Rhea-AI Summary

Invitae (NYSE: NVTA) will present findings on genetic testing for heritable cardiomyopathies and arrhythmias at the AHA Scientific Sessions on Nov. 13. The study revealed that combined testing identified clinically relevant variants in 20% of patients, with 66% of these findings expected to influence clinical management. Notably, 10.9% of patients would have been missed with narrower testing panels. The data supports the need for broader access to genetic testing to improve early interventions and treatment optimizations.

Positive

• 20% of 4,782 patients tested positive for clinically relevant variants.
• 66% of positive tests are projected to have implications for clinical management.
• Combined testing can identify conditions often missed with narrower panels.

Negative

• None.

SAN FRANCISCO, Nov. 8, 2021 /PRNewswire/ -- Investigators from Northwestern University Feinberg School of Medicine and Invitae (NYSE: NVTA), a medical genetics company, will present the results of a collaborative study on genetic testing for heritable cardiomyopathies and arrhythmias at the American Heart Association (AHA) Scientific Sessions on Saturday, Nov. 13. The study found combined genetic testing for heritable cardiomyopathies and arrhythmias identified clinically relevant variants for one in five patients suspected of having one of these conditions. Two-thirds of the positive findings were projected to have clinical management implications, and more than 10% of patients would have been missed with narrower panels specific to either cardiomyopathy or arrhythmia.

"Genetic testing for heritable cardiomyopathy and arrhythmia is recommended by cardiology professional societies, and this study underscores the value of using genetic information to improve diagnosis and treatment of these potentially life-threatening conditions that can cause heart failure and sudden cardiac death," said Elizabeth M. McNally, M.D., Ph.D., Director, Center for Genetic Medicine at Northwestern University Feinberg School of Medicine. "This research demonstrated the advantages of using a comprehensive, multi-condition gene panel to diagnose and provide critical insights that clinicians can use to tailor treatments."

The study sought to better understand the outcome and treatment implications of combined cardiomyopathy and arrhythmia genetic testing for genes associated with suspected cardiac genetic conditions. The research found that 20% of 4,782 patients had a positive test result, and of the positive results, 66% were projected to have clinical-management implications, such as genes associated with targeted therapy or increased risk of ventricular arrhythmia. From these positive results, 10.9% of the evaluable patients would have been missed had they only had a condition-specific panel, rather than the combined cardiomyopathy and arrhythmia genetic test. 

"Despite guidelines, genetic testing isn't as routine as it should be and this study reinforces the need to increase access to testing," said Robert Nussbaum, M.D., chief medical officer of Invitae. "With clinically relevant findings in 20% of the patients studied, and two-thirds of those projected to have clinical management implications, increasing access to genetic information may help clinicians facilitate earlier interventions and optimize treatment."

The data from this study stem from the Invitae Detect program, which launched in 2019 to offer sponsored, no-cost genetic testing for conditions in which testing is underutilized and can improve diagnosis and treatment. The study examined data from a one-year interval spanning 2019 to 2020.

About Northwestern University Feinberg School of Medicine

Located in the heart of Chicago's Magnificent Mile, Northwestern University Feinberg School of Medicine, founded in 1859, has built a national reputation for excellence through a strong history of collaborative, interdisciplinary medical education and research. Along with Northwestern Memorial Hospital and Northwestern Medical Group, Feinberg is part of the premier academic health system known as Northwestern Medicine. Feinberg stands out among the nation's research-intensive medical schools and consistently receives high marks in U.S. News & World Report surveys. Through its affiliates, it provides patient care to thousands of individuals every year, and plays an integral part in the communities it serves. The Center for Genetic Medicine at Northwestern University Feinberg School of Medicine is dedicated to improving the understanding of fundamental genetic mechanisms and the genetic basis of human disease. The center supports its member scientists by providing state-of-the-art core facilities, formal academic programs and public-education events.

About Invitae

Invitae Corporation (NYSE: NVTA) is a leading medical 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 the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at invitae.com.

Safe Harbor Statement

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the implications of the study results; the benefits of multi-condition gene panels to identify and inform treatment of heritable cardiomyopathies and arrhythmias; and that increasing access to genetic information may help clinicians facilitate earlier interventions and optimize treatment. 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 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, 2021. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:
pr@invitae.com   
(628) 213-3283

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SOURCE Invitae Corporation

FAQ

What were the findings of Invitae's study presented on Nov. 13?

Invitae's study found that combined genetic testing identified clinically relevant variants in 20% of patients, with 66% of these findings likely to affect clinical management.

What is the significance of the genetic testing study for NVTA?

The study highlights the importance of genetic testing in diagnosing heritable cardiomyopathies and arrhythmias, potentially increasing demand for Invitae's testing services.

How many patients in the study had clinical management implications?

Of the patients who tested positive, about 66% had findings projected to have clinical management implications.

What percentage of patients would have been missed with narrower panels in the study?

The study indicated that 10.9% of evaluable patients would have been missed if only using condition-specific panels.