OVERVIEW

Genomic Diagnosis for Children with Developmental Delay/Intellectual Disability (DD/ID) is organized by American College of Medical Genetics and Genomics (ACMG).

Description:
During The ACMG Genomics Case Conferences, a team from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient case in the area of genomics. The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care.

Session overview:
Developmental delay, intellectual disability, and related conditions (DD/ID) have considerable medical, financial, and psychological impacts on affected individuals and their families. As part of the Clinical Sequencing Exploratory Research (CSER) Consortium, we are sequencing children with intellectual and developmental disabilities that are refractory to standard diagnostic testing. Cases from this cohort will be presented, including those resulting in changes to medical management. Gene discovery and secondary findings will also be briefly discussed. Our experiences strongly support the value of large-scale sequencing as both a potent first-choice diagnostic tool and means to continually advance clinical and research progress related to DD/ID, especially when data are shared freely and rapidly.

Learning Objectives:
At the conclusion of the series, participants should be able to:
• Describe the clinical utility of whole exome/whole genome sequencing tests
• Identify clinical indications for whole exome/whole genome sequencing
• List determinants used to assess the probability of a variant’s pathogenicity
• Elaborate on the importance of pre-test counseling and consent

Session Learning objectives:
At the conclusion of this session, participants should be able to:
• Describe the overall goals of the CSER project at HudsonAlpha
• Identify changes in clinical management that can occur based on sequencing developmental delay/intellectual disability -affected individuals
• Address implications of reporting secondary and incidental findings to unaffected participants