Prevalence of actionable mutations and copy number alterations and the price of a genomic testing panel

Chan Shen, Funda Meric-Bernstam, Xiaoping Su, John Mendelsohn, Sharon Giordano

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)71686-71695
Number of pages10
Issue number44
StatePublished - 2016

All Science Journal Classification (ASJC) codes

  • Oncology


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