With a slew of landmark approvals in the last 18 months, FDA has solidified its commitment to advancing genetic diagnostics. Now the agency is turning to the outstanding challenges, with solutions on the horizon for software variability across NGS systems, limitations of liquid biopsies and detection of low-frequency variants.
In the last year and a half, FDA has approved five next-generation sequencing (NGS)-based tests -- all of which look for cancer-associated mutations in multigene panels -- and the first liquid biopsy diagnostic of cell-free DNA (cfDNA) in the blood: a PCR-based test for specific EGFR mutations.
Many of these netted milestones for the agency; some diagnostics were first in class, while two, approved in November, were the first in kind to navigate streamlined approval pathways. Previously, the only approved next-generation diagnostics were a pair of 2013 cystic fibrosis tests for mutations in CFTR (see “Tests Make the Grade”).
Table: Tests make the grade
FDA has approved eight genetic diagnostics that rely on emerging technologies: seven next-generation sequencing (NGS)-based tests and one liquid biopsy-based test. Several of those tests constitute milestone FDA approvals. (A) The two 2013 MiseqDX Assays were approved simultaneously; (B) Although MSK-IMPACT can uncover mutations that are associated with response to FDA approved therapeutics, it was approved as a low-to-moderate risk class II device, and not a companion diagnostic. Source: FDA; company websites
|Date||Milestone FDA approval||Product||Companies/Institutes||Disease||Test description||Companion therapeutics; companies|
|November 2013||First NGS-based diagnostic||MiSeqDx Cystic Fibrosis 139-Variant Assay||Illumina Inc. (NASDAQ:ILMN)||Cystic fibrosis (CF)||Detects single nucleotide|