Editorial
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World J Transplant. Dec 24, 2013; 3(4): 62-67
Published online Dec 24, 2013. doi: 10.5500/wjt.v3.i4.62
Clinical and ethical considerations of massively parallel sequencing in transplantation science
Andreas Scherer
Andreas Scherer, Spheromics, 81100 Kontiolahti, Finland
Author contributions: Scherer A solely contributed to this paper.
Correspondence to: Andreas Scherer, PhD, APM, CEO, Spheromics, Lehmustie 16, 81100 Kontiolahti, Finland. andreas.scherer@spheromics.com
Telephone: +358-44-3629559 Fax: +358-44-3629559
Received: June 25, 2013
Revised: September 12, 2013
Accepted: October 11, 2013
Published online: December 24, 2013
Abstract

Massively parallel sequencing (MPS), alias next-generation sequencing, is making its way from research laboratories into applied sciences and clinics. MPS is a framework of experimental procedures which offer possibilities for genome research and genetics which could only be dreamed of until around 2005 when these technologies became available. Sequencing of a transcriptome, exome, even entire genomes is now possible within a time frame and precision that we could only hope for 10 years ago. Linking other experimental procedures with MPS enables researchers to study secondary DNA modifications across the entire genome, and protein binding sites, to name a few applications. How the advancements of sequencing technologies can contribute to transplantation science is subject of this discussion: immediate applications are in graft matching via human leukocyte antigen sequencing, as part of systems biology approaches which shed light on gene expression processes during immune response, as biomarkers of graft rejection, and to explore changes of microbiomes as a result of transplantation. Of considerable importance is the socio-ethical aspect of data ownership, privacy, informed consent, and result report to the study participant. While the technology is advancing rapidly, legislation is lagging behind due to the globalisation of data requisition, banking and sharing.

Keywords: Sequencing, Diagnosis, Ethics, Consent, Data management

Core tip: Despite the great excitement about the opportunities that massively parallel sequencing (MPS) bears for the promotion of, e.g., transplant science, personalized medicine faces the challenge to guarantee privacy of data and findings. Here, some applications of MPS in transplant science are mentioned, and concerns and challenges in data analysis and management are discussed.