Case Studies in Pediatric Kidney Diseases: Who, When and How to Order Genetic Testing?

Friday, May 3, 2024

12:00 PM – 1:30 PM ET

Location: Metro Toronto Convention Centre: 714

CE: Live CME: 1.5
Ethics CME: 1.5

Selected By: ASPN

Leader(s)

mathieu lemaire, Md PhD (he/him/his)

associate professor of pediatrics
University of Toronto Temerty Faculty of Medicine
toronto, Ontario, Canada

Co-Leader(s)

AG

Ashima Gulati, MD, PhD, FASN (she/her/hers)

Assistant Professor
Children's National Hospital
Washington, District of Columbia, United States
LG

Lisa Guay-Woodford, MD (she/her/hers)

Senior Advisor for Clinical and Translational Initiatives
Childrens Hospital of Philadelphia
Philadelphia, Pennsylvania, United States

Slides
Kimberly Reidy, MD (she/her/hers)

Associate Professor
Children's Hospital at Montefiore
Bronx, New York, United States
Anna Williams, MD (she/her/hers)

Fellow
Duke University School of Medicine
Durham, North Carolina, United States

Slides

Disclosure(s):

mathieu JM lemaire, Md PhD: Alnylam (Ongoing) (Products/Services: Consultant, Speaker Honorarium including speakers bureau, symposia, and expert witness); Arbor Therapeutics (Ongoing) (Products/Services: Consultant)

Ashima Gulati, MD, PhD, FASN: I do not have any relevant financial / non-financial relationships with any proprietary interests.

Lisa M. Guay-Woodford, MD: Otsuka Pharmaceutical (Ongoing) (Products/Services: Advisory Committee, Consultant)

Kimberly J. Reidy, MD: Travere Therapeutics (Ongoing) (Products/Services: Research Support including clinical trials & the principal or named investigator)

Anna E. Williams, MD: I do not have any relevant financial / non-financial relationships with any proprietary interests.

Workshop

Description: The overall goal of this interactive workshop is to provide a framework for approaching genetic testing across a spectrum of pediatric kidney disease presentations, including CAKUT, cystic kidney diseases, nephrotic syndrome and atypical HUS. The format of this workshop will be an overview followed by 3-4 trainee case presentations, for which genetic testing was considered/obtained. Each case will be followed by panel discussion on the pros/cons/ethics of genetic testing including genetic panel selection (targeted testing vs. wider disease-based panels vs. whole exome sequencing). Cases on topics of interest will be submitted by trainees and the cases to be presented will be selected by the expert panel. Panelists will be allowed to review cases ahead of time to prepare for the discussion.

Learning Objectives:

Upon completion, participants will be able to describe the currently available clinical genetic testing strategies, including gene-specific, gene “panel”, chromosomal microarray and whole exome sequencing.
Upon completion, participants will be able to delineate the potential approaches to genetic testing for patients with CAKUT, cystic kidney disease, nephrotic syndrome and atypical HUS.