Today we’re joined by Kahlen Darr, a genetic counselor at Mayo Clinic who makes a speciality of inherited retinal and sophisticated genetic issues. We’re diving into how genetic testing works in ophthalmology and what clinicians have to know. Don’t miss this one!
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0:00 Introduction to Genetic Testing
1:43 Genetic Counseling Patient Encounter
3:33 Referral Expectations and First Visit
4:47 Family History and Pedigree Review
7:32 Pre-Test Counseling and Patient Trust
8:37 Partnering With Genetic Counselors
11:54 Sponsored Testing and Patient Choice
13:46 First Steps in Retinal Disease
16:59 Genetic Testing Yield and Limitations
18:52 Negative Results and Broader Sequencing
21:38 Genome Reanalysis Over Time
23:25 Reading Genetic Reports Carefully
28:26 Reclassifying Uncertain Variants
30:07 Counseling Through Difficult Results
33:12 When to Involve Medical Geneticists
37:10 Family Implications and Cascade Testing
39:55 Common Testing and Communication Mistakes
42:09 Risks and Benefits of Genetic Testing
45:03 Future of Genetic Care Models
47:47 Closing Remarks and Podcast Outro
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