Banking with precision: Transfusion medicine as a potential universal application in clinical genomics

Celina Montemayor, Patricia A.R. Brunker, Margaret A. Keller

Research output: Contribution to journalReview article

Abstract

Purpose of reviewTo summarize the most recent scientific progress in transfusion medicine genomics and discuss its role within the broad genomic precision medicine model, with a focus on the unique computational and bioinformatic aspects of this emergent field.Recent findingsRecent publications continue to validate the feasibility of using next-generation sequencing (NGS) for blood group prediction with three distinct approaches: exome sequencing, whole genome sequencing, and PCR-based targeted NGS methods. The reported correlation of NGS with serologic and alternative genotyping methods ranges from 92 to 99%. NGS has demonstrated improved detection of weak antigens, structural changes, copy number variations, novel genomic variants, and microchimerism. Addition of a transfusion medicine interpretation to any clinically sequenced genome is proposed as a strategy to enhance the cost-effectiveness of precision genomic medicine. Interpretation of NGS in the blood group antigen context requires not only advanced immunohematology knowledge, but also specialized software and hardware resources, and a bioinformatics-trained workforce.SummaryBlood transfusions are a common inpatient procedure, making blood group genomics a promising facet of precision medicine research. Further efforts are needed to embrace transfusion bioinformatic challenges and evaluate its clinical utility.

Original languageEnglish (US)
Pages (from-to)480-487
Number of pages8
JournalCurrent opinion in hematology
Volume26
Issue number6
DOIs
StatePublished - Nov 1 2019

Keywords

  • bioinformatics
  • blood group
  • genomics
  • next-generation sequencing

ASJC Scopus subject areas

  • Hematology

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