Emily Fassi stumbled across the field of genetic counseling when she was trying to figure out what she could do with her biology degree. Today, she is the Lead Genetic Counselor for the St. Luke’s Health System, specializing in hereditary cancer predisposition. Since genetic counseling came into existence as a profession, it has evolved an enormous amount, and continues to change at a rapid rate. In this episode, Emily explains what her role as a genetic counselor entails, why this work is so important, where the main limitations lie, and what she hopes the field will look like in the future. Emily’s passion for the genetic counseling realm is palpable, and this episode is full of fascinating information about a relatively little-known field which will intrigue medical and non-medical professionals alike!
Key Points from this Episode
- Emily explains what her work as a genetic counselor entails.
- How the genetics and medical fields complement one another.
- Continuous evolution that is taking place in the field of genetics.
- How Emily found out about genetic counseling, and what drew her to the field.
- Levels of detail that genetic counselors are able to provide their patients with, in comparison to physicians.
- Emily’s experience working in the pediatric and rare disease counseling realm, and how this contrasts to the oncology genetic counseling realm she is now working in.
- The process of deciding which genetics tests to do on a patient.
- Germline versus somatic mutations, and the increasing frequency of paired testing.
- Limitations of the guidelines around who should have genetic testing.
- Comparing polygenic and monogenic testing, and why Emily is excited about the former.
- Changes that Emily hopes to see take place in the genetic counseling field in the future.
- Some of the factors that lead to preventable cancers not being picked up early enough.
