Episode 4: Chatting with a Genetic Counselor ft. Grace Branger, MGC

BuzzSprout: https://www.buzzsprout.com/2604852/episodes/19587907

YouTube: https://youtu.be/CRNzjvVoxtA

Overview


On Episode 4 of Roadmap to Rare, Eric Finn is joined by Grace Branger, MGC, a genetic counselor who helps families navigate genetic testing and rare disease diagnoses. Grace discusses the basis of genetic testing, explains how to make sense of a genetic report—including uncertain results—and speaks to the guilt parents may feel after a diagnosis. She also expands upon how genetic counseling supports the whole family and discusses questions that parents can ask genetic counselors.


Key takeaways:


  • Introduction to Grace Branger and the role of a genetic counselor
  • A plain-language guide to the main types of genetic testing
  • How to read a genetic report, including interpreting variants of uncertain significance (VUS)
  • Discussion of how genetic counseling supports the whole family, including siblings


Episode highlights:


2:26: Grace introduces herself and discusses what drew her to genetic counseling

6:09: Genetic Testing 101

7:53: The main types of genetic testing: karyotyping, chromosomal microarray, and sequencing

12:25: What kind of genetic test can identify an OCNDS diagnosis

14:57: How to read a genetic report

19:00: Understanding a “variant of uncertain significance (VUS)”

22:47: Self blame after a genetic diagnosis

27:00: How genetic counselors help families qualify for and find services

38:05 The question that Grace wishes more families would ask 


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Episode Transcript

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