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Whole Genome Sequencing (WGS) is a genetic technique for sequencing the DNA from the entire patient genome. Whole Genome Sequencing is used to help clinicians confirm the diagnosis of a genetic condition of unknown etiology and end the patient’s diagnostic odyssey. Once diagnosis is established, more definite and careful clinical treatment planning and anticipatory care can be instituted.

Whole Genome Sequencing is used for diagnosing children with developmental delay, intellectual disability or multiple congenital anomalies (roughly 3% of population). Initial workup of these cases often includes neuroimaging, karyotype, CGH array and phenotype-driven metabolic, molecular and serial gene tests. Secondary tests such as biopsies, CSF examination, and EMG/NCV often follow a negative initial workup. In some cases, Whole Exome Sequencing is used to identify mutations that cannot be detected by more targeted approaches. However, Whole Exome Sequencing also misses mutations outside of coding regions; therefore, Whole Genome Sequencing is emerging as the most comprehensive assessment for genetic diagnosis. Clinical use of Whole Genome Sequencing may reduce costs of diagnosis, increase precision of diagnosis, and point to unsuspected treatable genetic conditions e.g., metabolic disorder, hereditary arrhythmias, or epilepsy.

For disorders of high genetic heterogeneity (multiple or undefined genes involved for the disorder) or with non-syndromic phenotypes (varied clinical manifestations not suggestive of a specific genetic condition), Whole Genome Sequencing offers potential advantages over traditional genetic testing where genes are typically analyzed sequentially over a longer period at substantial expense. The diagnostic yield of Whole Genome Sequencing in most diagnostic laboratories is higher than more targeted analyses, and Whole Genome Sequencing could thus enable early interventional therapies in infants that may alter what would otherwise be a fatal disease course. In this way, there is significant potential to decrease infant mortality related to genetic diseases, as well as to facilitate parental decision-making regarding transition to palliative care.

The anticipated benefits of Whole Genome Sequencing include providing actionable results that alter therapy and direct medical management, including:

• Provides an earlier diagnosis, enabling earlier treatments with better outcomes
   

• Ends diagnostic odysseys, avoiding additional testing that is often painful and/or costly, bringing closure, and saving further costs to families, insurers and hospitals
   

• Provides a more precise prognosis 
   

• Guides medical monitoring and/or medication changes
   

• Supports clinical trial eligibility
   

• Enables evidence-based reproductive planning decisions and identifies pre-symptomatic family members
   

Studies suggest that genomic testing offers improved clinical care and lower costs in the continuum of care, as well as appropriate use of esoteric tests and a reduction in test duplication. In the future, it is likely that Whole Genome Sequencing will be used increasingly as a first-line molecular diagnostic test to help tailor timely medical management, eliminating the need for unnecessary clinical evaluations and therapies.