#25- Patient Perspectives & Preferences with Risk and Uncertainty

In this episode we are talking about uncertainty and risk along with patient preferences for communication.

Segment 1: The attitudes of individuals with or at risk of adult-onset genetic conditions on reproductive genetic testing: A systematic review

Shanice Allen is a PhD student from the Sheffield Institute for Translational Neuroscience (SITraN) at the University of Sheffield. The aim of her research is exploring the attitudes and experiences of individuals with or at-risk of genetic MND on reproductive genetic testing, and explore how and if clinicians discuss these options with these individuals. This will help us identify any barriers to accessing reproductive services.

LinkedIn: https://www.linkedin.com/in/shanice-allen-9a89661a5/

In this segment we discuss:

- The attitudes toward reproductive genetic testing in adult-onset genetic conditions.

- Experiential knowledge and perceived disease severity in shaping reproductive decision-making.

- Ethical themes including guilt, eugenics, and concerns about pregnancy termination.

- Findings supporting more tailored, longitudinal genetic counseling approaches.

Segment 2: Assessing patient communication preferences for reclassified variants of uncertain significance in a general genetics clinic

Eden Brush, MS, CGC is a pediatric and inpatient genetic counselor in the Division of Clinical Genetics at Columbia University Irving Medical Center. She completed her graduate training at Columbia University as part of the class of 2024. She is passionate about rare disease advocacy, narrative medicine, and disability justice.

In this segment we discuss: