Fig. 1.

Components of the Diagnostic Odyssey. A) three generations of DNA sequencing technology are driving market growth and the types of analysis have expanded from single gene to whole genome. B) Speed to assembled genome for C) growth of variant classes in three groups assessed yearly from ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/). The VUS are annotations of “variants of uncertain significance” that also include conflicted annotations. Both Path and Benign include Likely Pathogenic and Likely Benign, respectively.