Medical Genetics in Ophthalmology: Through the Lens of Genetics-Informed Therapies OnDemand-Panel Discussion – Q&A [Session 3- The Role of Multidisciplinary Clinics in the Gene Therapy Era]

Panel Discussion – Q&A [Session 3- The Role of Multidisciplinary Clinics in the Gene Therapy Era]

Video Transcription

Video Summary

During a Q&A session, Gavin discussed plans to compare virtual long-read panels with full long-read sequencing to identify missed cases. He noted that while advances will uncover more genetic causes (complex alleles, deep intronic variants, structural variants), reaching 100% causality detection may be unrealistic. A genetic counselor asked about practice guidelines for genetic testing; Gavin mentioned that the ACMG is developing them, which are crucial for standardizing testing and insurance reimbursement. Broader adoption of exome and genome sequencing in clinics likely depends on such guidelines and insurance coverage. The session ended with thanks to the panelists.

Keywords

virtual long-read panels

full long-read sequencing

genetic causes detection

ACMG guidelines

genetic testing insurance coverage