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Volumn 89, Issue 1, 2016, Pages 10-19

The SickKids Genome Clinic: Developing and evaluating a pediatric model for individualized genomic medicine

Author keywords

Individualized genomic medicine; Next generation sequencing; Pediatrics; Whole exome; Whole genome

Indexed keywords

BIOINFORMATICS; CLINICAL ASSESSMENT; CLINICAL PRACTICE; ETHICS; GENETIC DISORDER; GENOME ANALYSIS; GENOMICS; HEALTH CARE POLICY; HEALTH ECONOMICS; HEALTH SERVICE; LABORATORY TEST; NEXT GENERATION SEQUENCING; PATIENT PREFERENCE; PEDIATRICS; PERSONALIZED MEDICINE; PRIORITY JOURNAL; REVIEW; GENETIC COUNSELING; GENETIC PREDISPOSITION; GENETIC SCREENING; HUMAN; HUMAN GENOME; MEDICAL ETHICS; MEDICAL GENETICS; PROCEDURES; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY; STANDARDS; TRENDS;

EID: 84955098960     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12579     Document Type: Review
Times cited : (37)

References (56)
  • 1
    • 84867214350 scopus 로고    scopus 로고
    • Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
    • 154ra135
    • Saunders CJ, Miller NA, Soden SE et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med 2012: 4 (154): 154ra135.
    • (2012) Sci Transl Med , vol.4 , Issue.154
    • Saunders, C.J.1    Miller, N.A.2    Soden, S.E.3
  • 2
    • 84918771753 scopus 로고    scopus 로고
    • Molecular findings among patients referred for clinical whole-exome sequencing
    • Yang Y, Muzny DM, Xia F et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 2014: 312: 1870-1879.
    • (2014) JAMA , vol.312 , pp. 1870-1879
    • Yang, Y.1    Muzny, D.M.2    Xia, F.3
  • 4
    • 84922326973 scopus 로고    scopus 로고
    • Dealing with pseudogenes in molecular diagnostics in the next-generation sequencing era
    • Claes KB, De Leeneer K. Dealing with pseudogenes in molecular diagnostics in the next-generation sequencing era. Methods Mol Biol 2014: 1167: 303-315.
    • (2014) Methods Mol Biol , vol.1167 , pp. 303-315
    • Claes, K.B.1    De Leeneer, K.2
  • 5
    • 84864326252 scopus 로고    scopus 로고
    • Genomic dark matter: the reliability of short read mapping illustrated by the genome mappability score
    • Lee H, Schatz MC. Genomic dark matter: the reliability of short read mapping illustrated by the genome mappability score. Bioinformatics 2012: 28: 2097-2105.
    • (2012) Bioinformatics , vol.28 , pp. 2097-2105
    • Lee, H.1    Schatz, M.C.2
  • 6
    • 84928770050 scopus 로고    scopus 로고
    • Detecting somatic mosaicism: considerations and clinical implications
    • Cohen AS, Wilson SL, Trinh J, Ye XC. Detecting somatic mosaicism: considerations and clinical implications. Clin Genet 2014: doi: 10.1111/cge.12502.
    • (2014) Clin Genet
    • Cohen, A.S.1    Wilson, S.L.2    Trinh, J.3    Ye, X.C.4
  • 7
    • 84864430562 scopus 로고    scopus 로고
    • SIFT web server: predicting effects of amino acid substitutions on proteins
    • Sim NL, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC. SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res 2012: 40: W452-W457.
    • (2012) Nucleic Acids Res , vol.40 , pp. W452-W457
    • Sim, N.L.1    Kumar, P.2    Hu, J.3    Henikoff, S.4    Schneider, G.5    Ng, P.C.6
  • 8
    • 84865064881 scopus 로고    scopus 로고
    • Performance of computational tools in evaluating the functional impact of laboratory-induced amino acid mutations
    • Gray VE, Kukurba KR, Kumar S. Performance of computational tools in evaluating the functional impact of laboratory-induced amino acid mutations. Bioinformatics 2012: 28: 2093-2096.
    • (2012) Bioinformatics , vol.28 , pp. 2093-2096
    • Gray, V.E.1    Kukurba, K.R.2    Kumar, S.3
  • 9
    • 84897463218 scopus 로고    scopus 로고
    • Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies
    • Wu J, Li Y, Jiang R. Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies. PLoS Genet 2014: 10: e1004237.
    • (2014) PLoS Genet , vol.10 , pp. e1004237
    • Wu, J.1    Li, Y.2    Jiang, R.3
  • 10
    • 84886247811 scopus 로고    scopus 로고
    • Assessment of computational methods for predicting the effects of missense mutations in human cancers
    • Gnad F, Baucom A, Mukhyala K, Manning G, Zhang Z. Assessment of computational methods for predicting the effects of missense mutations in human cancers. BMC Genomics 2013: 14 (Suppl. 3): S7.
    • (2013) BMC Genomics , vol.14 , pp. S7
    • Gnad, F.1    Baucom, A.2    Mukhyala, K.3    Manning, G.4    Zhang, Z.5
  • 11
    • 84867485246 scopus 로고    scopus 로고
    • A guide for functional analysis of BRCA1 variants of uncertain significance
    • Millot GA, Carvalho MA, Caputo SM et al. A guide for functional analysis of BRCA1 variants of uncertain significance. Hum Mutat 2012: 33: 1526-1537.
    • (2012) Hum Mutat , vol.33 , pp. 1526-1537
    • Millot, G.A.1    Carvalho, M.A.2    Caputo, S.M.3
  • 12
    • 79952592151 scopus 로고    scopus 로고
    • Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations
    • Tong MY, Cassa CA, Kohane IS. Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations. Bioinformatics 2011: 27: 891-893.
    • (2011) Bioinformatics , vol.27 , pp. 891-893
    • Tong, M.Y.1    Cassa, C.A.2    Kohane, I.S.3
  • 13
    • 78651393550 scopus 로고    scopus 로고
    • Carrier testing for severe childhood recessive diseases by next-generation sequencing
    • 65ra64
    • Bell CJ, Dinwiddie DL, Miller NA et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 2011: 3: 65ra64.
    • (2011) Sci Transl Med , vol.3
    • Bell, C.J.1    Dinwiddie, D.L.2    Miller, N.A.3
  • 14
    • 84881612178 scopus 로고    scopus 로고
    • Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals
    • Cassa CA, Tong MY, Jordan DM. Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals. Hum Mutat 2013: 34: 1216-1220.
    • (2013) Hum Mutat , vol.34 , pp. 1216-1220
    • Cassa, C.A.1    Tong, M.Y.2    Jordan, D.M.3
  • 15
    • 84955105775 scopus 로고    scopus 로고
    • March 6
    • ClinGen-Clinical Genome Resource. Retrieved March 6, 2015, from http://clinicalgenome.org.
    • (2015)
  • 16
    • 84872143942 scopus 로고    scopus 로고
    • Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
    • Fu W, O'Connor TD, Jun G et al. Analysis of 6, 515 exomes reveals the recent origin of most human protein-coding variants. Nature 2013: 493: 216-220.
    • (2013) Nature , vol.493 , pp. 216-220
    • Fu, W.1    O'Connor, T.D.2    Jun, G.3
  • 17
    • 84925285172 scopus 로고    scopus 로고
    • High burden of private mutations due to explosive human population growth and purifying selection
    • Gao F, Keinan A. High burden of private mutations due to explosive human population growth and purifying selection. BMC Genomics 2014: 15 (Suppl. 4): S3.
    • (2014) BMC Genomics , vol.15 , pp. S3
    • Gao, F.1    Keinan, A.2
  • 18
    • 84863986933 scopus 로고    scopus 로고
    • Secondary variants in individuals undergoing exome sequencing: Screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes
    • Johnston JJ, Rubinstein WS, Facio FM et al. Secondary variants in individuals undergoing exome sequencing: Screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet 2012: 91: 97-108.
    • (2012) Am J Hum Genet , vol.91 , pp. 97-108
    • Johnston, J.J.1    Rubinstein, W.S.2    Facio, F.M.3
  • 19
    • 84865731495 scopus 로고    scopus 로고
    • Beyond diagnostic accuracy: the clinical utility of diagnostic tests
    • Bossuyt PM, Reitsma JB, Linnet K, Moons KG. Beyond diagnostic accuracy: the clinical utility of diagnostic tests. Clin Chem 2012: 58: 1636-1643.
    • (2012) Clin Chem , vol.58 , pp. 1636-1643
    • Bossuyt, P.M.1    Reitsma, J.B.2    Linnet, K.3    Moons, K.G.4
  • 20
    • 77951482885 scopus 로고    scopus 로고
    • Outcomes of interest in evidence-based evaluations of genetic tests
    • Botkin JR, Teutsch SM, Kaye CI et al. Outcomes of interest in evidence-based evaluations of genetic tests. Genet Med 2010: 12: 228-235.
    • (2010) Genet Med , vol.12 , pp. 228-235
    • Botkin, J.R.1    Teutsch, S.M.2    Kaye, C.I.3
  • 21
    • 84895813688 scopus 로고    scopus 로고
    • The EGAPP initiative: lessons learned
    • Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. The EGAPP initiative: lessons learned. Genet Med 2014: 16: 217-224.
    • (2014) Genet Med , vol.16 , pp. 217-224
  • 22
    • 84897744254 scopus 로고    scopus 로고
    • Predictive genomic testing of children for adult onset disorders: a Canadian perspective
    • Szego MJ, Meyn MS, Anderson JA et al. Predictive genomic testing of children for adult onset disorders: a Canadian perspective. Am J Bioeth 2014: 14: 19-21.
    • (2014) Am J Bioeth , vol.14 , pp. 19-21
    • Szego, M.J.1    Meyn, M.S.2    Anderson, J.A.3
  • 23
    • 84925247962 scopus 로고    scopus 로고
    • Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines
    • Anderson JA, Hayeems RZ, Shuman C et al. Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines. Clin Genet 2014: doi: 10.1111/cge.12460.
    • (2014) Clin Genet
    • Anderson, J.A.1    Hayeems, R.Z.2    Shuman, C.3
  • 24
    • 33749473075 scopus 로고    scopus 로고
    • Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers
    • Borry P, Stultiens L, Nys H, Cassiman JJ, Dierickx K. Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Clin Genet 2006: 70: 374-381.
    • (2006) Clin Genet , vol.70 , pp. 374-381
    • Borry, P.1    Stultiens, L.2    Nys, H.3    Cassiman, J.J.4    Dierickx, K.5
  • 25
    • 84887439425 scopus 로고    scopus 로고
    • Recommendations for returning genomic incidental findings? We need to talk!
    • Burke W, Antommaria AH, Bennett R et al. Recommendations for returning genomic incidental findings? We need to talk!. Genet Med 2013: 15: 854-859.
    • (2013) Genet Med , vol.15 , pp. 854-859
    • Burke, W.1    Antommaria, A.H.2    Bennett, R.3
  • 26
    • 84884299829 scopus 로고    scopus 로고
    • Return of individual research results and incidental findings: facing the challenges of translational science
    • Wolf SM. Return of individual research results and incidental findings: facing the challenges of translational science. Annu Rev Genomics Hum Genet 2013: 14: 557-577.
    • (2013) Annu Rev Genomics Hum Genet , vol.14 , pp. 557-577
    • Wolf, S.M.1
  • 27
    • 84920528362 scopus 로고    scopus 로고
    • ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing
    • American College of Medical Genetics Board of Directors. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genet Med 2015: 17: 68-69.
    • (2015) Genet Med , vol.17 , pp. 68-69
  • 28
    • 84955154748 scopus 로고    scopus 로고
    • United States of America, 122 STAT. 881.
    • Genetic Information Nondiscrimination Act of 2008. United States of America, 2008: 122 STAT. 881.
    • (2008)
  • 29
    • 84889067060 scopus 로고    scopus 로고
    • Reflections on the cost of "low-cost" whole genome sequencing: framing the health policy debate
    • Caulfield T, Evans J, McGuire A et al. Reflections on the cost of "low-cost" whole genome sequencing: framing the health policy debate. PLoS Biol 2013: 11: e1001699.
    • (2013) PLoS Biol , vol.11 , pp. e1001699
    • Caulfield, T.1    Evans, J.2    McGuire, A.3
  • 30
    • 84906233102 scopus 로고    scopus 로고
    • Illuminating the future of DNA sequencing
    • Watson M. Illuminating the future of DNA sequencing. Genome Biol 2014: 15: 108.
    • (2014) Genome Biol , vol.15 , pp. 108
    • Watson, M.1
  • 31
    • 84941652552 scopus 로고    scopus 로고
    • The cost-effectiveness of returning incidental findings from next-generation genomic sequencing
    • Bennette CS, Gallego CJ, Burke W, Jarvik GP, Veenstra DL. The cost-effectiveness of returning incidental findings from next-generation genomic sequencing. Genet Med 2014: doi: 10.1038/gim.2014.156.
    • (2014) Genet Med
    • Bennette, C.S.1    Gallego, C.J.2    Burke, W.3    Jarvik, G.P.4    Veenstra, D.L.5
  • 32
    • 84880508099 scopus 로고    scopus 로고
    • PhenoTips: patient phenotyping software for clinical and research use
    • Girdea M, Dumitriu S, Fiume M et al. PhenoTips: patient phenotyping software for clinical and research use. Hum Mutat 2013: 34: 1057-1065.
    • (2013) Hum Mutat , vol.34 , pp. 1057-1065
    • Girdea, M.1    Dumitriu, S.2    Fiume, M.3
  • 33
    • 84881612402 scopus 로고    scopus 로고
    • Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data
    • Bean LJ, Tinker SW, da Silva C, Hegde MR. Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Hum Mutat 2013: 34: 1183-1188.
    • (2013) Hum Mutat , vol.34 , pp. 1183-1188
    • Bean, L.J.1    Tinker, S.W.2    da Silva, C.3    Hegde, M.R.4
  • 34
    • 84880547053 scopus 로고    scopus 로고
    • Genomics in clinical practice: lessons from the front lines
    • Jacob HJ, Abrams K, Bick DP et al. Genomics in clinical practice: lessons from the front lines. Sci Transl Med 2013: 5: 194cm195.
    • (2013) Sci Transl Med , vol.5 , pp. 194cm195
    • Jacob, H.J.1    Abrams, K.2    Bick, D.P.3
  • 35
    • 84896323921 scopus 로고    scopus 로고
    • Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis
    • Unit 9
    • Worthey EA. Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis. Curr Protoc Hum Genet 2013: 79 (Unit 9): 24.
    • (2013) Curr Protoc Hum Genet , vol.79 , pp. 24
    • Worthey, E.A.1
  • 36
    • 84864424447 scopus 로고    scopus 로고
    • Savant Genome Browser 2: visualization and analysis for population-scale genomics
    • Fiume M, Smith EJ, Brook A et al. Savant Genome Browser 2: visualization and analysis for population-scale genomics. Nucleic Acids Res 2012: 40: W615-W621.
    • (2012) Nucleic Acids Res , vol.40 , pp. W615-W621
    • Fiume, M.1    Smith, E.J.2    Brook, A.3
  • 37
    • 84901988831 scopus 로고    scopus 로고
    • The global alliance for genomics & health
    • Terry SF. The global alliance for genomics & health. Genet Test Mol Biomarkers 2014: 18: 375-376.
    • (2014) Genet Test Mol Biomarkers , vol.18 , pp. 375-376
    • Terry, S.F.1
  • 39
    • 84861225247 scopus 로고    scopus 로고
    • Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms
    • Tabor HK, Stock J, Brazg T et al. Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. Am J Med Genet A 2012: 158A: 1310-1319.
    • (2012) Am J Med Genet A , vol.158A , pp. 1310-1319
    • Tabor, H.K.1    Stock, J.2    Brazg, T.3
  • 40
    • 79952193435 scopus 로고    scopus 로고
    • A timely arrival for genomic medicine
    • Mayer AN, Dimmock DP, Arca MJ et al. A timely arrival for genomic medicine. Genet Med 2011: 13: 195-196.
    • (2011) Genet Med , vol.13 , pp. 195-196
    • Mayer, A.N.1    Dimmock, D.P.2    Arca, M.J.3
  • 41
    • 0033237813 scopus 로고    scopus 로고
    • The duty to recontact: attitudes of genetics service providers
    • Fitzpatrick JL, Hahn C, Costa T, Huggins MJ. The duty to recontact: attitudes of genetics service providers. Am J Hum Genet 1999: 64: 852-860.
    • (1999) Am J Hum Genet , vol.64 , pp. 852-860
    • Fitzpatrick, J.L.1    Hahn, C.2    Costa, T.3    Huggins, M.J.4
  • 42
    • 0035500612 scopus 로고    scopus 로고
    • Ethical, legal, and practical concerns about recontacting patients to inform them of new information: the case in medical genetics
    • Hunter AG, Sharpe N, Mullen M, Meschino WS. Ethical, legal, and practical concerns about recontacting patients to inform them of new information: the case in medical genetics. Am J Med Genet 2001: 103: 265-276.
    • (2001) Am J Med Genet , vol.103 , pp. 265-276
    • Hunter, A.G.1    Sharpe, N.2    Mullen, M.3    Meschino, W.S.4
  • 44
    • 84991491933 scopus 로고    scopus 로고
    • The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience
    • Lawrence L, Sincan M, Markello T et al. The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genet Med 2014: 16: 741-750.
    • (2014) Genet Med , vol.16 , pp. 741-750
    • Lawrence, L.1    Sincan, M.2    Markello, T.3
  • 46
    • 84955146906 scopus 로고    scopus 로고
    • McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, Maryland). March 6th
    • ®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, Maryland). Retrieved March 6th, 2015, from http://www.omim.org.
    • (2015)
  • 47
    • 84938513618 scopus 로고    scopus 로고
    • The impact of reporting incidental findings from exome and whole-genome sequencing: predicted frequencies based on modeling
    • Ding LE, Burnett L, Chesher D. The impact of reporting incidental findings from exome and whole-genome sequencing: predicted frequencies based on modeling. Genet Med 2015: 17: 197-204.
    • (2015) Genet Med , vol.17 , pp. 197-204
    • Ding, L.E.1    Burnett, L.2    Chesher, D.3
  • 48
    • 84955083706 scopus 로고    scopus 로고
    • Frequently asked questions. March 6th, 2015
    • Office of Rare Diseases Research. Frequently asked questions. Retrieved March 6th, 2015, from http://rarediseases.info.nih.gov/about-ordr/pages/31/frequently-asked-questions.
  • 51
    • 84868256748 scopus 로고    scopus 로고
    • Comparison of family history and SNPs for predicting risk of complex disease
    • Do CB, Hinds DA, Francke U, Eriksson N. Comparison of family history and SNPs for predicting risk of complex disease. PLoS Genet 2012: 8: e1002973.
    • (2012) PLoS Genet , vol.8 , pp. e1002973
    • Do, C.B.1    Hinds, D.A.2    Francke, U.3    Eriksson, N.4
  • 52
    • 83655182972 scopus 로고    scopus 로고
    • Experimental designs for robust detection of effects in genome-wide case-control studies
    • Ball RD. Experimental designs for robust detection of effects in genome-wide case-control studies. Genetics 2011: 189: 1497-1514.
    • (2011) Genetics , vol.189 , pp. 1497-1514
    • Ball, R.D.1
  • 53
    • 84875700256 scopus 로고    scopus 로고
    • Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies
    • 405e401-403.
    • Chatterjee N, Wheeler B, Sampson J, Hartge P, Chanock SJ, Park JH. Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies. Nat Genet 2013: 45 400-405, 405e401-403.
    • (2013) Nat Genet , vol.45 , pp. 400-405
    • Chatterjee, N.1    Wheeler, B.2    Sampson, J.3    Hartge, P.4    Chanock, S.J.5    Park, J.H.6
  • 54
    • 45949085378 scopus 로고    scopus 로고
    • Polygenes, risk prediction, and targeted prevention of breast cancer
    • Pharoah PD, Antoniou AC, Easton DF et al. Polygenes, risk prediction, and targeted prevention of breast cancer. N Engl J Med 2008: 358: 2796-2803.
    • (2008) N Engl J Med , vol.358 , pp. 2796-2803
    • Pharoah, P.D.1    Antoniou, A.C.2    Easton, D.F.3
  • 55
    • 84955066062 scopus 로고    scopus 로고
    • March 6th, 2015
    • Wikipedia. Hype cycle. 2015. Retrieved March 6th, 2015, from http://en.wikipedia.org/wiki/Hype_cycle.
    • (2015)
  • 56
    • 84955152650 scopus 로고    scopus 로고
    • March 6th, 2015
    • National Human Genome Research Institute Clinical Sequencing Exploratory Research (CSER). 2014. Retrieved March 6th, 2015, from http://www.genome.gov/27546194.
    • (2014)


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