Coalition aims to raise awareness and utilization of cardiogenomic testing to improve patient outcomes.
Several leading genomics companies and laboratories, including Illumina, Fulgent Genetics, Invitae, GeneDx, and PerkinElmer Genomics, have formed the CardioGenomic Testing Alliance (CGTA), a collaborative group aimed at raising awareness and utilization of genomic testing in cardiology. CGTA will inform healthcare providers and other stakeholders to the value of such testing to assure adherence to existing guidelines from professional medical societies, inform medical management and cascade testing, and improve clinical 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,” says Melissa Dempsey, genetic counselor at Illumina and CGTA chairwoman.
Genomic testing in cardiology is a powerful tool that can identify those at-risk for specific cardiac conditions, such as arrhythmias, cardiomyopathies, and congenital heart malformations. 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.”1 Sudden cardiac arrest can often be the first symptom of an inherited cardiac condition.2 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.3
“Genetic testing is one of the essential steps in the diagnosis and treatment of families with SADS conditions,” says Alice Lara, president of the SADS Foundation.
Despite evidence and major professional society recommendations, utilization and awareness of cardiogenomic testing remains low. CGTA will strive to inform healthcare providers about the current guidelines for the appropriate use of genetic testing in cardiology. Working with key stakeholders, CGTA will identify logistical barriers to testing and develop educational resources to address these barriers for providers and for the public.
To learn more about CGTA, please visit www.cardiogenomictesting.com.
1 Musunuru, Kiran, et al. “Genetic testing for inherited cardiovascular diseases: a scientific statement from the American Heart Association.” Circulation: Genomic and Precision Medicine 13.4 (2020): e000067.
2 Deo R, Albert CM. Epidemiology and genetics of sudden cardiac death. Circulation. 2012;125(4):620-637.
3 Data on file. The Sudden Arrhythmia Death Syndromes (SADS) Foundation.
For more such updates and perspectives around Digital Innovation, IoT, Data Infrastructure, AI & Cybersecurity, go to AI-Techpark.com.
