While cardiovascular (CV) genetics was the first subspecialty to introduce large scale multi-gene panels, it was also the first to experience an important downstream effect. This resulted in a wave of results, that we would soon learn, were not all that they seemed.
The last decade has led cardiovascular genetic testing down a winding and bumpy road.
Multiple efforts have been made over the years to streamline genetic testing: significantly improving testing and interpretation technology, standardizing variant classification, and shedding light on the increasingly recognized “genes of uncertain significance.”
With so many laboratories to choose from, healthcare professionals should have high expectations of the CV genetics offering from these companies.
Genetic Testing for Cardiovascular Diseases
After watching this webinar, you will be better able to navigate your cardiovascular genetic testing options with the end goal of choosing a trustworthy test with the highest likelihood of yielding an informative result for your patient and family.
- Outline the important quality coverage metrics to consider when choosing a cardiovascular gene panel
- Review the existing limitations in the analysis of certain, cardiac-specific genes
- Demonstrate the steps taken to build a carefully curated, clinically relevant cardiac gene panel
Read more about our options for cardiovascular diseases here.
Dr. Tero-Pekka Alastalo, CMO and President at Blueprint Genetics, designs diagnostic panels and mutation databases and works with clinical evaluation of genetic data. Tero-Pekka has a MD-PhD degree, a PhD in molecular and cellular biology, and is specialized in pediatrics and pediatric cardiology.
Julie Hathaway, Clinical Liaison at Blueprint Genetics. She has over six years experience working in cardiac genetics; her past roles include both program coordinator and genetic counselor in a provincial multidisciplinary inherited arrhythmia program. Julie is an American and Canadian Board Certified Genetic counselor.