Genetics Clinical Grand Rounds: "Genomic Medicine: A Hong Kong Story on How International Collaboration has Resulted in Improved Diagnosis, Better Patient Management and Discovery of New Syndromes"

NEEDS ASSESSMENT

Genomic sequencing is now in routine clinical practice. Medical geneticists need to understand the different diagnostic options following an initial negative evaluation. We describe a collaborative study between Yale and the University of Hong Kong on exome re-analysis that has resulted in positive outcomes. It is important for providers and personnel to document the clinical utility of genomic testing beyond diagnosis to provide strong evidence for funding support.

LEARNING OBJECTIVES

1. Understand the different approaches in tackling undiagnosed genetic diseases following a negative WES.

2. Understand the need of longitudinal studies to evaluate the clinical benefits of genomic sequencing. Discuss the history and scope of NIH undiagnosed disease network

3. Understand how international collaboration can lead to the discovery of new syndromes , e.g. MCTT syndrome