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PerkinElmer has expanded its genomics testing services with the launch of its ultrarapid whole genome sequencing.
PerkinElmer has introduced its ultrarapid whole genome sequencing (urWGS) services through PerkinElmer Genomics, expanding the company’s portfolio of whole genome sequencing offerings. The urWGS offering provides physicians with comprehensive, meaningful results in five days to help inform clinical management and improve outcomes for critically ill patients in neonatal and pediatric intensive care units (NICUs and PICUs).
urWGS uses a dried blood spot sample to provide phenotype-driven analysis with a mean coverage of 40x a patient’s genome. According to a May 16, 2022 press release, studies suggest that up to 15% of disease-causing genetic variants may be found in the non-coding regions of the genome, which WGS helps identify. In addition to an analysis of the mitochondrial genome, copy number variation detection—which identifies deletions, duplications, other gene- and chromosomal-level events, spinal muscular atrophy, and a repeat disorders screen—the urWGS offering includes a StepOne comprehensive biochemical profile. The StepOne offering screens for more than 70 inherited conditions and disorders, including the recommended universal newborn screening panel as well as many others that may not be found in state-mandated programs.
Rapid WGS tests have been shown to reduce healthcare costs for patients in NICUs and PICUs (1). In addition, these testing services include the elimination of unnecessary tests and procedures and reduced length of hospital stays, according to PerkinElmer in its press release.
“Increasingly, whole genome sequencing is proving its value as a first-tier clinical test for many patients, especially in a NICU and PICU where timely clinical decisions are critical for timely intervention,” said Madhuri Hegde, senior vice-president and chief scientific officer, Global Lab Services, PerkinElmer, in the press release. “By making services such as this urWGS combined with StepOne available to more hospital systems and physicians, our hope is that we may help shorten the diagnostic odyssey for more newborns and their families. With PerkinElmer’s global leadership in newborn screening using dried blood spot card technology, we will continue to enhance urWGS with additional assays.”
1. D. Dimmock, et al., Am J Hum Genet. 108 (7) 1231–1238 (2021).