One of the codes CMS has posted is 0094U, Genome (eg, unexplained constitutional or heritable disorder or syndrome), rapid sequence analysis.
2018: Faernes et al.
In 2018, Rady and its coauthors published Faernes et al., (open access here), a study of outcomes and economics in 42 infants with ICU-level medical crises of unknown etiology.
2019: Clark et al.
Newly, in April 2019, Clark et al. have published a detailed methods and phenotyping paper in Science Translational Medicine. Get it here. The full title is, "Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation." See coverage and interview at Genomeweb, here.
- See more at the Rady Children's Institute for Genomic Medicine website, here.
- Their annual Frontiers in Pediatric Genomic Medicine conference is April 30-May 3 in La Jolla, here.
Federal Legislative Boost?
In 2018, a bill promoting WGS testing in ICU-level Medicaid infants was floated; here; it may reappear in 2019.