#283 Cardiogenetics with Blueprint Genetics

We delve into the intricate intersection of genetics and cardiac health, exploring the profound impact of genetic insights on patient care and treatment decisions. Joining us are two distinguished guests from Blueprint Genetics, Julie Hathaway and Susan Christian, both seasoned genetic counselors specializing in cardiovascular health. Their expertise promises to illuminate the complexities of genetic testing in cardiac conditions, offering valuable insights into familial risk assessment, intervention strategies, and emerging trends in personalized medicine.

Susan Christian is a certified genetic counsellor with Genetics & Genomics with Alberta Precision Labs and is cross appointed to the Medical Genetics Clinics with Alberta Health Services. She completed a MSc in Genetic Counselling from the University of British Columbia in 1999 and a PhD in Medical Genetics from the University of Alberta in 2019. Her research focus is on genetic counselling and inherited heart disease.

Julie Hathaway is an American and Canadian Board certified genetic counselor. She was introduced to cardiac genetics early on in her career and this remains her main area of interest in the field. As a Clinical Liaison at Blueprint Genetics, Julie provides both internal and external clinical support and education. In addition, she contributes to research and creating scientific content.

Exploring Genetic Cardiac Conditions:

- Deciphering the two main types of cardiac conditions: structural differences and rhythm abnormalities, providing clarity on their distinctions and clinical implications.

Identifying Familial Risk:

- Key clues in family histories that may indicate inherited cardiac conditions, emphasizing the importance of early detection and intervention.

Challenges in Testing Deceased Patients:

- The challenges laboratories face in testing deceased patients, highlighting the complexities of obtaining samples and interpreting limited phenotypic data.

Family Testing and Intervention:

- The significance of testing family members after identifying a familial variant, discussing intervention strategies and clinical trial eligibility.

Patient Impact of Genetic Test Results:

- How genetic test results impact patient management, including decisions regarding clinical trial eligibility and implantable cardioverter-defibrillator (ICD) implantation.

Genetic Testing Panels and Exome Sequencing:

- The selection of genetic testing panels, discussing the considerations for panel size and the circumstances warranting exome sequencing.

Addressing Emotional and Psychological Aspects:

- The vital role of genetic counselors in supporting patients and families through the emotional and psychological aspects of genetic testing for cardiac conditions.

Ethical Considerations and Future Trends:

- The ethical considerations of genetic testing in pediatric cases and explores the future of genetic testing and personalized medicine in cardiology.

Be sure to check out Blueprint Genetics’ cardiac genetic testing options including over 20 panels.

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