Whole Genome Sequencing:

Whole genome sequencing (WGS) consists of analysis of most of the DNA content in an individual’s genome. WGS has been used as a tool to establish a diagnosis in individuals with exceptionally complex and severe phenotypes and has also been used in the oncology setting to characterize tumor genomes. WGS has typically been performed at tertiary medical centers under the care of large multidisciplinary teams, with a large research component significantly contributing to the diagnostic and evaluation process. High-quality clinical trial data are lacking in the published peer-reviewed scientific literature to inform on the use and effectiveness of whole genome sequencing outcome the research setting. At this time the clinical utility of such testing has not been established.

Use Outside of the US

No relevant information

Summary for Other Genetic Testing:

Whole exome sequencing (WES) may have clinical utility value for use in scenarios of undiagnosed disorders that involve multiple congenital anomalies suggesting a single genetic etiology, but lacking a clear diagnostic testing path. In this case stepwise testing may result in costly and prolonged diagnostic assessment. However, sequencing has significant limitations, including long turn-around times, high false positive and negative values, and high variants of unknown clinical significance rates. Similar limitations exist for large panel testing and clinical utility has not been established in large high-quality clinical trials. Clinical utility of whole genome sequencing (WGS) has not been established. Data are limited in the published peer-reviewed scientific literature regarding the use of these tests in routine clinical practices.