Genomic case conferences are live webinars that focus on the adaptation of exome or genome sequencing technology in clinical care. During the ACMG Genomics Case Conferences, expert(s) from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics. Genomic Case Conferences are free for Members/Trainees (credits not included).
Session Description
In both pediatric and adult populations, genetic renal diseases are underdiagnosed and underappreciated. In a cohort of patients selected by clinicians based on suspicion of a monogenic kidney disease, we show that the genetic diagnostic rate is very high (~45%) if comprehensive genetic testing is done. A broad range of Mendelian diseases can be diagnosed, including cystic kidney disease, congenital anomalies of the kidney and urinary tract (CAKUTs), tubulointerstitial disease and glomerular disease. In addition, non-Mendelian genetic disease is also seen, including bilineal and digenic disease, atypical forms of disease and unsuspected disease. As such, comprehensive genetic testing has an important place in the clinical care and evaluation of the renal patient.
Session Description
In both pediatric and adult populations, genetic renal diseases are underdiagnosed and underappreciated. In a cohort of patients selected by clinicians based on suspicion of a monogenic kidney disease, we show that the genetic diagnostic rate is very high (~45%) if comprehensive genetic testing is done. A broad range of Mendelian diseases can be diagnosed, including cystic kidney disease, congenital anomalies of the kidney and urinary tract (CAKUTs), tubulointerstitial disease and glomerular disease. In addition, non-Mendelian genetic disease is also seen, including bilineal and digenic disease, atypical forms of disease and unsuspected disease. As such, comprehensive genetic testing has an important place in the clinical care and evaluation of the renal patient.
Faculty:
Christie P Thomas MBBS
Professor of Internal Medicine, Pediatrics and Molecular Medicine
Director, Renal Genetics Clinic, Carver College of Medicine
Richard JH Smith, MD
Professor of Internal Medicine, Pediatrics and Molecular Medicine
Director, Iowa Institute of Human Genetics, Carver College of Medicine
Maggie E. Freese, MS, CGC
Associate Genetic Counselor, Department of Medicine, Carver College of Medicine
This course does not offer educational credits.