In this episode, we are discussing 2 articles focused on cardiovascular genetics. In the first segment, Khalida talks to authors Marianne and Erin about their research exploring the opportunities for downstream revenue of cardiac genetic counseling services in a pediatric medical center. In the second segment, Naomi chats with Jodie and Erin about the recent NSGC Practice Resource about genetic testing and counseling for hypertrophic cardiomyopathy.
Segment 1: Cardiac genetic counseling services: Exploring downstream revenue in a pediatric medical center
Marianne Olson, MS, CGC is a genetic counselor at Baptist Health in Kentucky. She provides prenatal genetic counseling at Maternal Fetal Medicine clinics in Louisville and Lexington. Marianne graduated from the Cincinnati Genetic Counseling Graduate Program in 2024. Prior to working as a genetic counselor, Marianne taught high school chemistry and biology for 12 years.
Erin Miller is an Associate Professor in the University of Cincinnati College of Medicine. Erin is a genetic counselor IN THE DIVISION OF CARDIOLOGY at Cincinnati Children’s Hospital Medical Center. She leads the cardiology genetic counseling team in providing genetic counseling services to individuals of all ages with and at risk for cardiovascular disease. Erin is focused on improving access to genetics services for families with inherited cardiovascular diseases.
In this segment we discuss:
- What sparked the decision to explore downstream revenue (DSR) in a cardiac genetic counseling setting
- Financial challenges institutions face when hiring genetic counselors, especially around reimbursement
- The role of genetic counseling in reducing costs by guiding risk stratification and avoiding unnecessary testing
- Limited uptake of cardiac screening among at-risk relative and strategies that could help improve adherence
- How findings from this study can support the case for sustaining genetic counseling roles within pediatric cardiology
- Potential to adapt the study’s methodology to other specialties like neurology or prenatal genetics, and considerations for doing so
Erin Miller (she/her) is an Associate Professor in the College of Medicine at the University of Cincinnati and a cardiac genetic counselor at Cincinnati Children’s Hospital Medical Center in the Division of Cardiology. She leads the cardiology genetic counseling team in providing genetic counseling services to individuals of all ages with and at risk for cardiovascular disease. Erin is focused on improving access to genetics services for families with inherited cardiovascular diseases.
Associate Professor Jodie Ingles (she/her) is Head of the Clinical Genomics Laboratory and Program Director of Genomics and Inherited Disease Program at Garvan Institute of Medical Research. She is a cardiac genetic counsellor in the Department of Cardiology, Royal Prince Alfred Hospital Sydney. Her team is focused on using genomics to improve diagnosis and care of families with inherited cardiovascular diseases.
In this segment we discuss:
- The motivation behind creating an official practice resource focused on genetic testing and counseling for HCM
- Deep dive into the first major recommendation: offering genetic testing to all individuals with a suspected or confirmed diagnosis of HCM, paired with appropriate genetic counseling
- Exploration of the second recommendation: ensuring that genetic tests are selected, ordered, and interpreted within the context of genetic counseling, and the complexities that come with this process
- Discussion
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