publication . Article . Other literature type . 2019

Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases

Marilyn C. Jones; Stacie L. Taylor; David P. Bick; Ryan J. Taft; John W. Belmont;
Open Access
  • Published: 01 Apr 2019 Journal: Journal of Medical Genetics, volume 56, pages 783-791 (issn: 0022-2593, eissn: 1468-6244, Copyright policy)
  • Publisher: BMJ
Abstract
<jats:p>Up to 350 million people worldwide suffer from a rare disease, and while the individual diseases are rare, in aggregate they represent a substantial challenge to global health systems. The majority of rare disorders are genetic in origin, with children under the age of five disproportionately affected. As these conditions are difficult to identify clinically, genetic and genomic testing have become the backbone of diagnostic testing in this population. In the last 10 years, next-generation sequencing technologies have enabled testing of multiple disease genes simultaneously, ranging from targeted gene panels to exome sequencing (ES) and genome sequencing...
Subjects
free text keywords: Genetics(clinical), Genetics, Diagnostics, 1506, clinical genome sequencing, rare and undiagnosed, neonates, pediatric, Rare disease, Computational biology, Genetic testing, medicine.diagnostic_test, medicine, DNA sequencing, Population, education.field_of_study, education, Medical diagnosis, Exome sequencing, Global health, Biology, Personalized medicine, business.industry, business
100 references, page 1 of 7

1 GlobalGenesProject Rare diseases: facts and statistics., 2017 Available: https://globalgenesorg/rare-diseases-facts-statistics/

2 Baird PA, Anderson TW, Newcombe HB, Lowry RB Genetic disorders in children and young adults: a population study. Am J Hum Genet 1988;42:677–93.3358420 [OpenAIRE] [PubMed]

3 Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 2013;14:681–91. 10.1038/nrg3555 23999272 [OpenAIRE] [PubMed] [DOI]

4 McCandless SE, Brunger JW, Cassidy SB The burden of genetic disease on inpatient care in a children's hospital. Am J Hum Genet 2004;74:121–7. 10.1086/381053 14681831 [OpenAIRE] [PubMed] [DOI]

5 Simon TD, Berry J, Feudtner C, Stone BL, Sheng X, Bratton SL, Dean JM, Srivastava R Children with complex chronic conditions in inpatient hospital settings in the United States. Pediatrics 2010;126:647–55. 10.1542/peds.2009-3266 20855394 [OpenAIRE] [PubMed] [DOI]

6 Walker CE, Mahede T, Davis G, Miller LJ, Girschik J, Brameld K, Sun W, Rath A, AyméS, Zubrick SR, Baynam GS, Molster C, Dawkins HJS, Weeramanthri TS The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort. Genet Med 2017;19:546–52. 10.1038/gim.2016.143 27657686 [OpenAIRE] [PubMed] [DOI]

7 Gonzaludo N, Belmont JW, Gainullin VG, Taft RJ Estimating the burden and economic impact of pediatric genetic disease. Genet Med 2018;18 10.1038/s41436-018-0398-5 [OpenAIRE] [DOI]

8 ACMG Board of Directors Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genet Med 2015;17:505–7. 10.1038/gim.2015.41 25764213 [OpenAIRE] [PubMed] [DOI]

9 Shaffer LG, Bejjani BA Medical applications of array CGH and the transformation of clinical cytogenetics. Cytogenet Genome Res 2006;115:303–9. 10.1159/000095928 17124414 [OpenAIRE] [PubMed] [DOI]

10 Beliveau BJ, Joyce EF, Apostolopoulos N, Yilmaz F, Fonseka CY, McCole RB, Chang Y, Li JB, Senaratne TN, Williams BR, Rouillard J-M, Wu C-t Versatile design and synthesis platform for visualizing genomes with Oligopaint FISH probes. Proceedings of the National Academy of Sciences 2012;109:21301–6. 10.1073/pnas.1213818110 [OpenAIRE] [DOI]

11 Tucker T, Schlade-Bartusiak K, Eydoux P, Nelson TN, Brown L Uniparental disomy: can SNP array data be used for diagnosis?Genet Med 2012 (published Online First: 2012/04/28). [OpenAIRE]

12 Shaffer LG, Kashork CD, Saleki R, Rorem E, Sundin K, Ballif BC, Bejjani BA Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006;149:98–102. 10.1016/j.jpeds.2006.02.006 16860135 [OpenAIRE] [PubMed] [DOI]

13 Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749–64. 10.1016/j.ajhg.2010.04.006 20466091 [OpenAIRE] [PubMed] [DOI]

14 Joshi C, Kolbe DL, Mansilla MA, Mason SO, Smith RJH, Campbell CA Reducing the cost of the diagnostic odyssey in early onset epileptic encephalopathies. BioMed Research International 2016;2016:1–8. 10.1155/2016/6421039 [OpenAIRE] [DOI]

15 Howell KB, Kornberg AJ, Harvey AS, Ryan MM, Mackay MT, Freeman JL, Rodriguez Casero MV, Collins KJ, Hayman M, Mohamed A, Ware TL, Clark D, Bruno DL, Burgess T, Slater H, McGillivray G, Leventer RJ High resolution chromosomal microarray in undiagnosed neurological disorders. J Paediatr Child Health 2013;49:716–24. 10.1111/jpc.12256 23731025 [OpenAIRE] [PubMed] [DOI]

100 references, page 1 of 7
Abstract
<jats:p>Up to 350 million people worldwide suffer from a rare disease, and while the individual diseases are rare, in aggregate they represent a substantial challenge to global health systems. The majority of rare disorders are genetic in origin, with children under the age of five disproportionately affected. As these conditions are difficult to identify clinically, genetic and genomic testing have become the backbone of diagnostic testing in this population. In the last 10 years, next-generation sequencing technologies have enabled testing of multiple disease genes simultaneously, ranging from targeted gene panels to exome sequencing (ES) and genome sequencing...
Subjects
free text keywords: Genetics(clinical), Genetics, Diagnostics, 1506, clinical genome sequencing, rare and undiagnosed, neonates, pediatric, Rare disease, Computational biology, Genetic testing, medicine.diagnostic_test, medicine, DNA sequencing, Population, education.field_of_study, education, Medical diagnosis, Exome sequencing, Global health, Biology, Personalized medicine, business.industry, business
100 references, page 1 of 7

1 GlobalGenesProject Rare diseases: facts and statistics., 2017 Available: https://globalgenesorg/rare-diseases-facts-statistics/

2 Baird PA, Anderson TW, Newcombe HB, Lowry RB Genetic disorders in children and young adults: a population study. Am J Hum Genet 1988;42:677–93.3358420 [OpenAIRE] [PubMed]

3 Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 2013;14:681–91. 10.1038/nrg3555 23999272 [OpenAIRE] [PubMed] [DOI]

4 McCandless SE, Brunger JW, Cassidy SB The burden of genetic disease on inpatient care in a children's hospital. Am J Hum Genet 2004;74:121–7. 10.1086/381053 14681831 [OpenAIRE] [PubMed] [DOI]

5 Simon TD, Berry J, Feudtner C, Stone BL, Sheng X, Bratton SL, Dean JM, Srivastava R Children with complex chronic conditions in inpatient hospital settings in the United States. Pediatrics 2010;126:647–55. 10.1542/peds.2009-3266 20855394 [OpenAIRE] [PubMed] [DOI]

6 Walker CE, Mahede T, Davis G, Miller LJ, Girschik J, Brameld K, Sun W, Rath A, AyméS, Zubrick SR, Baynam GS, Molster C, Dawkins HJS, Weeramanthri TS The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort. Genet Med 2017;19:546–52. 10.1038/gim.2016.143 27657686 [OpenAIRE] [PubMed] [DOI]

7 Gonzaludo N, Belmont JW, Gainullin VG, Taft RJ Estimating the burden and economic impact of pediatric genetic disease. Genet Med 2018;18 10.1038/s41436-018-0398-5 [OpenAIRE] [DOI]

8 ACMG Board of Directors Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genet Med 2015;17:505–7. 10.1038/gim.2015.41 25764213 [OpenAIRE] [PubMed] [DOI]

9 Shaffer LG, Bejjani BA Medical applications of array CGH and the transformation of clinical cytogenetics. Cytogenet Genome Res 2006;115:303–9. 10.1159/000095928 17124414 [OpenAIRE] [PubMed] [DOI]

10 Beliveau BJ, Joyce EF, Apostolopoulos N, Yilmaz F, Fonseka CY, McCole RB, Chang Y, Li JB, Senaratne TN, Williams BR, Rouillard J-M, Wu C-t Versatile design and synthesis platform for visualizing genomes with Oligopaint FISH probes. Proceedings of the National Academy of Sciences 2012;109:21301–6. 10.1073/pnas.1213818110 [OpenAIRE] [DOI]

11 Tucker T, Schlade-Bartusiak K, Eydoux P, Nelson TN, Brown L Uniparental disomy: can SNP array data be used for diagnosis?Genet Med 2012 (published Online First: 2012/04/28). [OpenAIRE]

12 Shaffer LG, Kashork CD, Saleki R, Rorem E, Sundin K, Ballif BC, Bejjani BA Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006;149:98–102. 10.1016/j.jpeds.2006.02.006 16860135 [OpenAIRE] [PubMed] [DOI]

13 Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749–64. 10.1016/j.ajhg.2010.04.006 20466091 [OpenAIRE] [PubMed] [DOI]

14 Joshi C, Kolbe DL, Mansilla MA, Mason SO, Smith RJH, Campbell CA Reducing the cost of the diagnostic odyssey in early onset epileptic encephalopathies. BioMed Research International 2016;2016:1–8. 10.1155/2016/6421039 [OpenAIRE] [DOI]

15 Howell KB, Kornberg AJ, Harvey AS, Ryan MM, Mackay MT, Freeman JL, Rodriguez Casero MV, Collins KJ, Hayman M, Mohamed A, Ware TL, Clark D, Bruno DL, Burgess T, Slater H, McGillivray G, Leventer RJ High resolution chromosomal microarray in undiagnosed neurological disorders. J Paediatr Child Health 2013;49:716–24. 10.1111/jpc.12256 23731025 [OpenAIRE] [PubMed] [DOI]

100 references, page 1 of 7
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