Clinical genomics has advanced the diagnostic rate for rare genetic disorders and continues to unravel novel genotype and phenotype associations at breakneck pace. The Foo-lab has been working to utilise advanced clinical genomics technologies and methodologies to resolve cases for Rare Diseases and Inherited Cardiac Conditions (ICC) in Singapore. The overarching aim is to support the provision of efficient and rapid molecular diagnosis for affected patients and their families in Singapore hospitals, harnessing technologies available in our lab and neighbouring translational labs at the Genome Institute of Singapore.
The one-time opportunity from the BMRC SUREkids grant award allowed the Foo-lab (in collaboration with genomics and molecular labs in KKH, GIS and NUH) to pioneer the first clinical targeted exome test in Singapore. We also established an ICC gene testing panel which tests patients for various conditions encompassing Inherited Aortopathies, Arrhythmias, Cardiomyopathies and Familial Hypercholesterolaemia. We are continuously tapping into the immense potential of clinical genomics revolution by keeping abreast and curating the vast amounts of clinical-genotype data generated through next-generation sequencing platforms. Our clinical sequencing effort has now led to the creation of an in-house genetic repository of ICC “Asian-relevant” variants and is adding to the pool of Asian-specific knowledge-base of rare genetic mutations linked to ICC. Our clinical genomics efforts are aligned with the guidelines by American College of Medical Genetics and routinely apply knowledge from the Clingen variant curation working group.