View Only-Comprehensive Genetic Testing Informs Diagnosis and Facilitates Management in Patients with Kidney Diseases-Comprehensive Genetics Testing MP4

Video Transcription

Video Summary

The ACMG Genomics Case Conference is a monthly conference organized by the ACMG Education Committee. The conference aims to discuss cases related to genomic testing and bring together laboratory workers and clinicians involved in the cases. The conference is meant for educational purposes only.<br /><br />The video features three presenters: Christy Thomas, Professor Richard Smith, and Maggie Fries. The presenters are a nephrologist, a professor of internal medicine and the director of the Iowa Institute of Human Genetics, and a certified genetic counselor. The presentation includes the presenters' disclosures and the credits given to the planning committee.<br /><br />The learning objectives of the conference include understanding the clinical utility of targeted sequencing in renal disease, identifying clinical indications for targeted testing, describing the likelihood of a positive genetic diagnosis, discussing the limitations of this type of testing, and recognizing the importance of pre-test and post-test counseling and consent.<br /><br />The conference also includes the discussion of eight case histories related to different categories of kidney diseases, such as renal cystic diseases and glomerular diseases. The presenters highlight the importance of genetic testing in making a precise diagnosis, predicting outcomes and progression, and offering personalized treatments and management strategies.<br /><br />The video concludes by mentioning the challenges of genetic testing, such as cost, interpretation, and the need for genetic counseling. The presenters also discuss the limitations of the current testing technology and the potential future developments in genetic testing for kidney diseases. The audience is encouraged to ask questions at the end of the presentation.

Keywords

ACMG Genomics Case Conference

genomic testing

renal disease

targeted sequencing

genetic diagnosis

genetic counseling

kidney diseases

personalized treatments