Show notes
We are discussing perspective changes in neurology genetics with the crossover of the APOE gene in neuro and cardio as well as telehealth for neurology predictive testing.
Segment 1: Is it time for a paradigm shift? Inclusion of APOE on genetic dyslipidemia panels.
Emily Brown is a certified genetic counselor at the Center for Inherited Heart Disease at Johns Hopkins Hospital. She graduated from the University of Maryland Genetic Counseling Program in 2014 and has practiced in cardiology for the past 10 years. Her main areas of interest include dyslipidemias, and she is a member of the National Lipid Association.
Hannah Ison is a cardiovascular genetic counselor at the Stanford Center for Inherited Cardiovascular Disease. She received her Master’s in Medical and Molecular Genetics from Indiana University in 2018, and returned home to California to begin her career. Her primary clinical interest includes working with patients who have inherited lipid conditions in both the adult and pediatric setting. A large part of her role has been focused on developing a Pediatric Lipid Clinic at the Stanford Children’s Hospital, allowing her to care for patients across the generations. Hannah was the co-chair of the Dyslipidemia Working Group through the cardiovascular SIG from 2020-2024 where she worked with members to develop dyslipidemia resources. In addition to her work in the lipid space, she also provides inpatient and outpatient genetic counseling to patients with isolated congenital heart disease, and enjoys participating in various research opportunities.
In this segment we discuss:
- APOE’s relevance in both Alzheimer’s and cardiovascular disease
- Counseling strategies for APOE alleles (ε2, ε3, and ε4), including penetrance, lifestyle modification, and exploration of risk for conditions and symptoms external to Alzheimer’s
- Case studies highlighting APOE’s diagnostic, variant, and treatment insights
- The need for standardization, education, and reframing of APOE testing in practice
Segment 2: Patient-reported outcomes for remote and in-person visits for genetic counseling in adult neurology.
Rachel A. Paul, MS, CGC and Laynie Dratch, ScM, CGC are board-certified genetic counselors who specialize in adult neurogenetics and work with the Penn Neurogenetics Therapy Center team in Philadelphia, PA (https://www.linkedin.com/company/penn-neurogenetics-therapy-center).
Rachel provides clinical and research genetic counseling services for the Division of Movement Disorders at the University of Pennsylvania. Her research interests include genetic screening for clinical trials access, remote/telemedicine genetic services, and motivations/barriers for genetics utilization. She graduated cum laude from Temple University in Philadelphia, previously worked as a genetic counseling assistant (GCA) for the Penn neurogenetics program, and completed her training with the Arcadia University (now University of Pennsylvania) Genetic Counseling Program.
Laynie’s clinical focus includes frontotemporal degeneration (FTD) spectrum disorders, amyotrophic lateral sclerosis (ALS), and other neurodegenerative conditions. Her research interests include the lived experiences of at-risk individuals, predictive genetic testing considerations, and genetic counseling access and service delivery. She graduated summa cum laude from Colgate University with a BA in neuroscience and a minor in psychology, and completed her genetic counseling masters training at the Johns Hopkins University and the National Institutes of Health.
In this segment we discuss:
- How COVID-19 pushed neurogenetics counseling from in-person to telehealth.
- Why patient satisfaction stayed high across both formats, with video outperforming phone.
- What drives visit preferences—travel, tech comfort, privacy, and clinical needs.
- Future research to refine protocols, improve access, and explore broader applications.
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