Table 2.
NSCLC plasma cfDNA genotyping assays that have received FDA approval or breakthrough device designation
| Kit/test | Company | Technology/application | FDA status |
|---|---|---|---|
| Targeted PCR‐based | |||
| cobas EGFR Mutation Test v2 | Roche Molecular Systems | RT‐PCR for detection of 42 gene mutations in EGFR | FDA approved in June 2016 |
| Multiplex NGS‐based | |||
| Guardant360 CDx | Guardant Health | NGS test that detects point mutations (74 genes), amplifications (18 genes), fusions (6 genes), and indels (23 genes) to guide treatment selection in non‐small‐cell lung carcinoma | FDA approved in August 2020; breakthrough device designation in May 2019 |
| FoundationOne Liquid CDx | Foundation Medicine | NGS test that detects over 300 cancer‐related genes including clinically relevant indels, substitutions, copy number variants, and selected genetic rearrangements in 70 oncogenes for companion diagnostics; detects multiple signatures including tumor mutational burden and microsatellite instability | FDA approved in August 2020; breakthrough device designation in April 2018 |
| Multicancer early detection test | GRAIL | NGS blood test analyzing ctDNA methylation patterns for detecting multiple cancer types | FDA breakthrough device designation in May 2019 |
| CancerSEEK | Thrive Earlier Detection | Multianalyte test that combines multiplexed PCR detection of mutations in ctDNA at 1,933 loci with measurements of validated protein biomarkers to diagnose eight common cancer types including breast, ovarian, and liver cancer | FDA breakthrough device designation in August 2018 |
| Ivy‐Gene CORE Test; Ivy‐Gene Dx Liver Test | Laboratory for Advanced Medicine | Analyzes presence of hyper‐methylated ctDNA from multiple gene targets to confirm the presence of breast, colon, liver, and lung cancers as early as stage I | FDA breakthrough device designation in September 2019 |
Abbreviations: CDx, companion diagnostics; cfDNA, cell‐free DNA; ctDNA, circulating tumor DNA; EGFR, epidermal growth factor receptor; FDA, U.S. Food and Drug Administration; NGS, next‐generation sequencing; NSCLC, non‐small cell lung cancer; PGM, personal genome machine; PCR, polymerase chain reaction; RT‐PCR, real‐time polymerase chain reaction.