A number of genomic testing companies and laboratories have joined forces to launch the CardioGenomic Testing Alliance (CGTA), a collaborative group with a purpose of raising awareness and the use of genomic assays to test for a variety of cardiovascular conditions. The member companies will work together to advance the use of these tests by educating healthcare organizations, physicians, and other stakeholder of the clinical utility of testing to improve patient outcomes.
“The companies forming this coalition believe in extensive clinical utility of cardiogenomic testing. Their combined efforts to increase awareness and utilization of cardiogenomic testing will show the positive outcomes genetic testing can have on patients,” said Melissa Dempsey, genetic counselor at Illumina and CGTA chairwoman in a press release.
According to the CTGA website, genomic testing in cardiology allows patients and their families to track inherited cardiac conditions, which can lead to early diagnosis and earlier treatment for cardiovascular diseases. Molecular testing of patients can provide insights to clinicians of patients who are at risk of developing cardiac conditions, including arrhythmias, cardiomyopathies, and congenital heart malformations.
While there is ample evidence of the benefit of cardiogenomic testing and recommendations from professional organizations for its use, the rate of testing for patients remains low. According to the American Heart Association, “genetic testing is informative and useful for the clinical management of various inherited cardiovascular diseases such as cardiomyopathies, arrhythmic disorders, thoracic aortic aneurysms and dissections, and familial hypercholesterolemia.”
Research has show that sudden cardiac arrest can often be the first symptom of an inherited cardiac condition. The Sudden Arrhythmia Death Syndromes (SADS) Foundation reports that up to 49% of victims of sudden cardiac death had a significant family history that should have triggered diagnostic testing, and cascade genetic testing reveals an average of 8.9 additional affected family members.
“Genetic testing is one of the essential steps in the diagnosis and treatment of families with SADS conditions,” said Alice Lara, president of the SADS Foundation in a prepared statement.
Cardiac disease remains the number one cause of death worldwide, and many cardiovascular conditions have strong genetic components. In the U.S. alone, nearly 100,000 people die of sudden cardiac arrest due to inherited cardiac conditions every year. If there is either a personal or family history of cardiac disease, genomic testing in cardiology can help identify any abnormalities and prevent future cardiac emergencies.
Founding member of CTGA include Illumina, Fulgent Genetics, Invitae, GeneDx, and PerkinElmer Genomics. Membership is open to additional companies that operates in any of the following areas:
- Genomics companies with technologies that can identify genetic susceptibility to cardiac disease;
- Laboratories that provides genetic testing for cardiovascular disorders; and
- Digital health companies that provides services that aid in genetic testing for cardiovascular disorders.