Monday, April 29, 2019

Very Brief Blog: PLA Codes Brought to Life - Rady and Whole Genome Sequencing in Infant ICU

CMS has posted the initial code list for its summer new lab test pricing meeting - here.  47 codes are already up for discussion, of which 41 are new PLA codes.  (And, I expect CMS to probably expand this list in late May with a couple dozen last minute codes coming out of the May 9 AMA CPT meeting).

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.