輸血醫學的精準醫療：以次世代定序作血型配對

Precision Medicine in Transfusion Medicine: Blood Group Matching with Next-Generation Sequencing

在輸血醫學領域，可以藉由輸血前病人及捐血人的延伸血型配對，達到個人化及精準化醫療的具體實行。全面的抗原檢測有助於延伸配對（extended matching），在血清學試劑的不足與一般基因檢測的檢測限制下，次世代定序（next-generation sequencing, NGS）適合作為全面血型的準確平台。此篇利用100個捐血人的檢體，以NGS進行分佈於16個血型系統之24個基因的檢測，其結果與血清學的一致率高達99.4％，並解決許多血清學判定不足的地方，例如微量鑲嵌型（microchimerism）、基因重組、新的變異位點等。另外還介紹目前以次世代定序作血型抗原檢測的相關發表與臨床重要意義，並討論台灣輸血醫學日後邁向精準化醫療的發展可能。

In transfusion medicine, the extended matching of blood group antigens between patients and donors prior transfusion is the key to the practice of personalized and precision medicine. Full antigen typing of the red blood cells will facilitate such practice. To overcome the shortage of adequate antisera and limited genotyping platform for antigen testing, next-generation sequencing rise to be the suitable platform for full antigen testing with high accuracy. In this study, we demonstrated that when using the NGS for 100 donor samples, we managed to test for 24 blood group genes across 16 blood group systems with 99.4% accuracy. NGS also resolved serology discrepancy and was able to detect microchimerism, gene rearrangements and novel variants that contributed to antigen expression differences. We also summarized recent publication of NGS on blood group genotyping, discussed the clinical significance of each study and provide an outline for precision transfusion medicine practice in Taiwan.