Insights

Genetic Diagnostics for Patients with Inherited Cardiovascular Diseases

10.05.2018

Inherited cardiovascular conditions are no longer considered rare and are an important cause of sudden cardiac death in seemingly healthy and young individuals.

Obtaining an accurate and timely diagnosis is key to determining treatment and implementing preventative measures. Genetic diagnostics has now become an important, efficient way to subtype a patient’s hereditary cardiovascular disease and offers many benefits to patients such as:

  • Personalizing treatment where possible
  • Clarifying the disease’s inheritance pattern
  • Providing a definitive molecular diagnosis
  • Assisting with family planning and risk stratification

Having previously worked directly with this population, I can appreciate the need to offer the genetic test that will provide the greatest likelihood of arriving at an answer and a diagnosis for the family.

As a genetic counselor, I look for a test that uses the best technology, provides the highest quality interpretation, and is clear about not only the findings, but any limitations that might exist. Patients trust their health care providers to choose the best test for their family; in turn, providers must trust the company that will perform the testing. In return, providers must trust the testing they choose.

Blueprint Genetics’ cardiology genetic diagnostics offer several key advantages over its competitors:

Expertise: The founding team at Blueprint is composed of several experienced cardiologists with multiple academic publication collaborations

Transparency: Blueprint’s extensive analytic validation is the key feature which sets it apart from the competition and is publicly available. It demonstrates the quality and performance of the pipeline and creates measurable standards for our testing.

Comprehensive Analysis: Panels include high-resolution CNV detection and offer coverage of clinically relevant non-coding variants.

Quality: Clinical findings are reported and reviewed by experienced laboratory geneticists and expert cardiologists

Cardiology update:

Blueprint Genetics added 100 new clinically relevant genes to their cardiology panels in March 2018. These updated panels offer enhanced clinical utility, exceptional quality, and are well positioned to address complex, overlapping phenotypes, which are often seen in patients with inherited cardiovascular diseases.

It is exciting to be part of a laboratory that is forging the path towards innovation in genetic diagnostics!

Read more about Blueprint Genetics’ comprehensive cardiology here.

 

Julie Hathaway CardiovascularJulie 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.

Last modified: 12.11.2018