PMID- 24253860 OWN - NLM STAT- MEDLINE DCOM- 20150206 LR - 20211203 IS - 1476-5438 (Electronic) IS - 1018-4813 (Print) IS - 1018-4813 (Linking) VI - 22 IP - 6 DP - 2014 Jun TI - Making the genomic leap in HCT: application of second-generation sequencing to clinical advances in hematopoietic cell transplantation. PG - 715-23 LID - 10.1038/ejhg.2013.247 [doi] AB - 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. FAU - Li, Yun R AU - Li YR AD - 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. FAU - Levine, John E AU - Levine JE AD - Blood and Marrow Transplant Program, University of Michigan, Ann Arbor, MI, USA. FAU - Hakonarson, Hakon AU - Hakonarson H AD - 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. FAU - Keating, Brendan J AU - Keating BJ AD - 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. LA - eng GR - U01 HG006830/HG/NHGRI NIH HHS/United States GR - 3U01HG006830-S1/HG/NHGRI NIH HHS/United States GR - U01HG006830/HG/NHGRI NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, Non-U.S. Gov't PT - Review DEP - 20131120 PL - England TA - Eur J Hum Genet JT - European journal of human genetics : EJHG JID - 9302235 RN - 0 (HLA Antigens) SB - IM MH - Genomics/*methods/trends MH - HLA Antigens/genetics MH - Hematopoietic Stem Cell Transplantation/*methods/trends MH - High-Throughput Nucleotide Sequencing/*methods/trends MH - Histocompatibility Testing/*methods/trends MH - Humans MH - Translational Research, Biomedical/methods/trends PMC - PMC4023221 EDAT- 2013/11/21 06:00 MHDA- 2015/02/07 06:00 PMCR- 2015/06/01 CRDT- 2013/11/21 06:00 PHST- 2013/02/21 00:00 [received] PHST- 2013/09/20 00:00 [revised] PHST- 2013/09/27 00:00 [accepted] PHST- 2013/11/21 06:00 [entrez] PHST- 2013/11/21 06:00 [pubmed] PHST- 2015/02/07 06:00 [medline] PHST- 2015/06/01 00:00 [pmc-release] AID - ejhg2013247 [pii] AID - 10.1038/ejhg.2013.247 [doi] PST - ppublish SO - Eur J Hum Genet. 2014 Jun;22(6):715-23. doi: 10.1038/ejhg.2013.247. Epub 2013 Nov 20.