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

oleh: 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

Format: Article
Diterbitkan: Public Library of Science (PLoS) 2023-01-01

Deskripsi

<h4>Background</h4>The 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.<h4>Methods</h4>120 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.<h4>Results</h4>Buccal 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.<h4>Conclusions</h4>The 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.