PLoS ONE (Jan 2023)

Utility of a buccal swab point-of-care test for the IFNL4 genotype in the era of direct acting antivirals for hepatitis C virus.

  • Aminata Sy,
  • Leanne McCabe,
  • Emma Hudson,
  • Azim M Ansari,
  • Vincent Pedergnana,
  • Shang-Kuan Lin,
  • S Santana,
  • Marzia Fiorino,
  • Aftab Ala,
  • Ben Stone,
  • M Smith,
  • Mark Nelson,
  • Stephen T Barclay,
  • Stuart McPherson,
  • Stephen D Ryder,
  • Jane Collier,
  • Eleanor Barnes,
  • Ann Sarah Walker,
  • Sarah L Pett,
  • Graham Cooke,
  • STOP-HCV-1 trial team

DOI
https://doi.org/10.1371/journal.pone.0280551
Journal volume & issue
Vol. 18, no. 1
p. e0280551

Abstract

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BackgroundThe CC genotype of the IFNL4 gene is known to be associated with increased Hepatitis C (HCV) cure rates with interferon-based therapy and may contribute to cure with direct acting antivirals. The Genedrive® IFNL4 is a CE marked Point of Care (PoC) molecular diagnostic test, designed for in vitro diagnostic use to provide rapid, real-time detection of IFNL4 genotype status for SNP rs12979860.Methods120 Participants were consented to a substudy comparing IFNL4 genotyping results from a buccal swab analysed on the Genedrive® platform with results generated using the Affymetix UK Biobank array considered to be the gold standard.ResultsBuccal swabs were taken from 120 participants for PoC IFNL4 testing and a whole blood sample for genetic sequencing. Whole blood genotyping vs. buccal swab PoC testing identified 40 (33%), 65 (54%), and 15 (13%) had CC, CT and TT IFNL4 genotype respectively. The Buccal swab PoC identified 38 (32%) CC, 64 (53%) CT and 18 (15%) TT IFNL4 genotype respectively. The sensitivity and specificity of the buccal swab test to detect CC vs non-CC was 90% (95% CI 76-97%) and 98% (95% CI 91-100%) respectively.ConclusionsThe buccal swab test was better at correctly identifying non-CC genotypes than CC genotypes. The high specificity of the Genedrive® assay prevents CT/TT genotypes being mistaken for CC, and could avoid patients being identified as potentially 'good responders' to interferon-based therapy.