Genetic disorders arise from diverse types of molecular variants. Historically, clinical genetic testing assays could only assess for specific types of variants (primarily sequencing-based). This resulted in many patients with complex phenotypes remaining undiagnosed or required to submit to multiple rounds of testing with alternate assays to reach a diagnosis. Whole genome sequencing (WGS) now offers healthcare providers the ability to test for many types of variants with one assay, providing a powerful tool to pinpoint an etiology accurately and more rapidly for these patients, thus avoiding the diagnostic odyssey. Here, we summarize our experience performing clinical WGS at Baylor Genetics to highlight its utility as a first-tier diagnostic test capable of detecting a spectrum of variant types.
