Next generation sequencing and blood group genotyping: a narrative review

Abstract

Objective: The work is a narrative review on blood group antigen (BGA) genotyping using next generation sequencing (NGS). Background: The introduction of genotyping technologies for BGA typing has changed the practice of transfusion medicine facilitating the identification of antigen-negative blood donors compatible with immunized patients against common antigens and extended BGA matching for transfusion dependent patients. Methods: The review presents data from the articles published as a full-length papers in PubMed and reported in conference abstracts. Conclusions: The massive parallel sequencing has opened up new possibilities in the immunohematological field giving the opportunity to screen numbers of donors and alleles as well as determine any nucleotide variants in the tested sequences, quantify sequences for estimation of copy number variation (CNV) or chimerism and map of haplotype and cis/trans location. NGS technology is used for blood donor BGA screening, to puzzle out the background of complicated serological cases and for noninvasive prenatal testing (NIPT) of fetal antigens. The correlation between BGA NGS and phenotyping/ genotyping results varies from 92% to 99%. The current state of BGA NGS requires a deep standardization and validation of all the steps including bioinformatic tools as well as ethical guidelines before it can be implemented in routine BGA diagnostics.