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Eur J Hum Genet. 2014 Jun;22(6):715-23. doi: 10.1038/ejhg.2013.247. Epub 2013 Nov 20.

Making the genomic leap in HCT: application of second-generation sequencing to clinical advances in hematopoietic cell transplantation.

Author information

1
1] Medical Scientist Training Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA [2] Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
2
Blood and Marrow Transplant Program, University of Michigan, Ann Arbor, MI, USA.
3
1] Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA [2] Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA [3] Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
4
1] Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA [2] Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA [3] Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA [4] Division of Transplantation, Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Abstract

Recent developments in second-generation sequencing (SGS) technologies provide an avenue for achieving rapid and accurate high-throughput analysis of human and microbial genomic diversity. SGS technologies have the potential to transform existing medical management of complex and life-threatening medical conditions by enabling clinicians to develop disease-targeted clinical care plans for each patient. In this review, we outline how innovative SGS-based approaches can improve the care of recipients of allogeneic hematopoietic cell transplantation (HCT), a life-saving procedure that carries a 1-year mortality risk of over 30%. We specifically evaluate foreseeable applications of SGS-based technology in facilitating rapid, phase-sensitive human leukocyte antigen (HLA) typing, assessment of non-HLA genomic compatibility, identifying patients at high risk for adverse drug reactions, and post-HCT monitoring for engraftment, minimal residual disease and infection. We conclude that innovative SGS approaches have the capacity to revolutionize the HCT recipient risk assessment process, support non-invasive clinical monitoring and improve patient outcomes, thereby setting the stage for a new era of genomically informed patient-centered medicine.

PMID:
24253860
PMCID:
PMC4023221
DOI:
10.1038/ejhg.2013.247
[Indexed for MEDLINE]
Free PMC Article
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