EP on EP Episode 60 - Variants of Unknown Significance-EP on EP Episode 60

Video Transcription

Video Summary

In this episode of EP&IP, Dr. Michael Ackerman discusses the issue of variants of unknown significance (VUS) in genetic testing. He explains that when faced with a VUS result, it is important to consider the strength of the phenotype and the specific gene involved. The phenotype, or clinical presentation, is a crucial factor in determining whether the VUS is likely to be disease-causing or benign. Dr. Ackerman suggests that genetic testing results should be evaluated in the context of the patient's symptoms and family history. He also highlights the importance of co-segregation data, which involves testing family members who exhibit the same phenotype as the patient. If the VUS is present in those individuals, it provides strong evidence that it may be disease-causing. However, if the VUS is absent in family members, caution is necessary in dismissing their risk for the disease. Dr. Ackerman emphasizes the complexity of genetic testing and urges clinicians to approach VUS results with careful consideration.

Keywords

variants of unknown significance

genetic testing

phenotype

clinical presentation

co-segregation data