血液疾患と輸血ジャーナル

概要

Next Generation Sequencing of Human Red Cell Antigens Kell, Kidd, and Duffy for Routine Clinical Investigations and Donor Screening: A Systematic Review and Meta-Analysis

Hua HC, Jackson DE*

The emergence of Next-Generation Sequencing (NGS) allows replacement over current molecular testing for red cell antigens in routine practice of transfusion laboratories in determining individual phenotypes. The high throughput platforms enhance the likelihood of donor matching by extended blood group genotyping and meanwhile explore novel and rare polymorphisms, potentially assisting in large-pooled donor screening and well-typed inventory build- up in blood banks. To reconcile NGS application in this field, this systematic review and meta-analysis of the literature was conducted to examine whether NGS has adequate grounds to replace current SNV-based genotyping. Overall, 362 samples in 6 eligible studies were studied upon screening through inclusion/exclusion criteria. Concordance analyses between NGS platforms and serology or other molecular typing methods on Kell, Kidd, and Duffy genes were performed to investigate the accuracy of NGS in donor phenotype prediction. The pooled proportion agreement for the 6 included studies on the overall concordance between NGS and comparators were 0.987 (95% CI, 0.975 to 0.996; P<0.001) for Kell, 0.984 (95% CI, 0.968 to 0.994; P<0.001) for Kidd, and 0.986 (95% CI, 0.973 to 0.995; P<0.001) for Duffy genotyping. Our results demonstrated accurate typing of Kell, Kidd, and Duffy genes in blood samples by NGS in conjunction with its ability in the unprecedented evaluation of novel and complex structural variants, though technological and methodological hurdles still exist. As such, NGS is still a complementary tool to serology with its potential manifested by further studies and advances in sequencing platforms.