title: Prevalence of actionable mutations and copy number alterations and the price of a genomic testing panel.
abstract: Interest in genomic testing for the selection of cancer therapy is growing. However, the cost of genomic testing has not been well studied. We sought to determine the price of identifying mutations and copy number alterations (CNAs) in theoretically actionable genes across multiple tumor types. We reviewed data from The Cancer Genome Atlas to determine the frequency of alterations in nine tumor types. We used price information from a commonly used commercial genomic testing platform (FoundationOne) to determine the price of detecting mutations and CNAs in different types of tumors. Although there are large variations in the prevalence by tumor type, when the detection of both mutations and CNAs was considered overall, most patients had at least one alteration in a potentially actionable gene (84% overall, range 51%- 98% among tumor types assessed). The corresponding average price of identifying at least one alteration per patient ranges from $5,897 to $11,572. Although the frequency of mutations and CNAs in actionable genes differs by tumor type, most patients have an actionable genomic alteration detectable by a commercially available panel. Determining CNAs as well as mutations improves actionability and reduces the price of detecting an alteration.
authors.affiliation: Department of Health Services Research, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.|Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
authors.forename: Chan
authors.initials: C
authors.lastname: Shen
authors.affiliation: Departments of Investigational Cancer Therapeutics and Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
authors.forename: Funda
authors.initials: F
authors.lastname: Meric-Bernstam
authors.affiliation: Departments of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Su
authors.affiliation: Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.|Center for Health and Biosciences, Baker Institute, Rice University, Houston, TX, USA.
authors.forename: John
authors.initials: J
authors.lastname: Mendelsohn
authors.affiliation: Department of Health Services Research, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
authors.forename: Sharon
authors.initials: S
authors.lastname: Giordano
mesh_terms: D003365:Costs and Cost Analysis; D056915:DNA Copy Number Variations; D023281:Genomics; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000235:genetics*
keywords: cancer; copy number alterations; costs; genomic testing panel; mutations