Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases

PLoS Currents

Volumn , Issue MAY 2012, 2012, Pages

  Kingsmore, Stephen ^a  

^a CHILDREN S MERCY HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHILDHOOD DISEASE; CONSANGUINITY; DISEASE CARRIER; DNA SEQUENCE; FERTILIZATION IN VITRO; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; MOLECULAR DIAGNOSIS; POLYMERASE CHAIN REACTION; QUALITY OF LIFE; RECESSIVE INHERITANCE; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; VALIDATION PROCESS; VALIDITY;

EID: 84873480914     PISSN: None     EISSN: 21573999     Source Type: Journal    
DOI: None     Document Type: Review

References (45)

1. Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med. 2011 Jan 12;3(65):65ra4. PMID:21228398.
2. Maddalena A, Bale S, Das S, Grody W, Richards S. American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories. Technical Standards and Guidelines: Molecular Genetic Testing for Ultra-Rare Disorders. 2006. http://www.acmg.net/Pages/ACMG_Activities/stds-2002/URD.htm
3. Kaback MM. The control of genetic disease by carrier screening and antenatal diagnosis: social, ethical and medico-legal implications. Birth Defects 18:243-54 (1982).
4. Motulsky AG. Screening for genetic diseases. N Engl J Med. 336:1314-16 (1997).
5. Srinivasan BS, Evans EA, Flannick J, Patterson AS, Chang CC, Pham T, Young S, Kaushal A, Lee J, Jacobson JL, Patrizio P. A universal carrier test for the long tail of Mendelian disease. Reprod Biomed Online. 2010 Oct;21(4):537-51. PMID:20729146.
6. Baker VL, Rone HM, Adamson GD. Genetic evaluation of oocyte donors: recipient couple preferences and outcome of testing. Fertil Steril. 90:2091-8 (2008).
7. Myrianthopoulos NC, Aronson SM. Population dynamics of Tay-Sachs disease. I. Reproductive fitness and selection. Am J Hum Genet. 18:313-27 (1966). PMID: 5945951.
8. Kaback MM. Hexosaminidase A Deficiency. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 1999 Mar 11 [updated 2006 May 19]. PMID: 20301397
9. Mitchell, J.J., Capua, A., Clow, C., Scriver, C.R. Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools. Am J Hum Genet. 59:793-8 (1996).
10. D'Souza G, McCann C, Hiedrick J, Fairley CL, Nagel HL, Kushner JD, Kessel R. Tay-Sachs disease carrier screening: a 21-year experience. Genet Test. 4:257-63 (2000).
11. Kaback MM. Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model. Eur J Pediatr. 159 Suppl 3:S192-5 (2000). PMID: 11216898.
12. Population-based carrier screening for single gene disorders: lessons learned and new opportunities. February 6-7, 2008. Available at http://www.genome.gov/27026048
13. Kronn, D., Jansen, V., Ostrer, H. Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY. Arch Intern Med. 158:777-81 (1998).
14. The Human Genetics Commission. Increasing options, informing choice: A report on preconception genetic testing and screening. April 6 2011. http://www.hgc.gov.uk/Client/document.asp?DocId=315&CAtegoryId=10
15. Castellani, C., et al. Association between carrier screening and incidence of cystic fibrosis. JAMA. 302:2573-9 (2009).
16. Hale, J.E., Parad, R.B., Comeau, A.M. Newborn screening showing decreasing incidence of cystic fibrosis. N Engl J Med. 358:973-974 (2008).
17. Bobadilla JL, Macek M Jr, Fine JP, Farrell PM. Cystic Fibrosis: A Worldwide Analysis of CFTR Mutations-Correlation With Incidence Data and Application to Screening. Hum Mutat. 19:575-606 (2002). PubMed PMID: 12007216.
18. Grody, W.W., Cutting, G.R., Klinger, K.W., Richards, C.S., Watson, M.S., Desnick, R.J. Laboratory standards and guidelines for population based cystic fibrosis carrier screening. Genetics in Medicine. 3:149-54 (2001).
19. Barlow-Stewart K, Burnett L, Proos A, Howell V, Huq F, Lazarus R, Aizenberg H. A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students. J Med Genet. 40:e45 (2003).
20. McCabe L. Efficacy of a targeted genetic screening program for adolescents. Am J Hum Genet. 31:743 (1994).
21. Lau YL, Chan LC, Chan YYA, Chan BS, Shau-Yin H, Yeung CY, Waye JS, Chui DHK. Prevalence and genotypes of alpha and beta-thalassaemia carriers in Hong Kong-implications for population screening. N Engl J Med. 336:1298-301 (1997).
22. Barlow-Stewart K, Keays D. Genetic discrimination in Australia. J Law Med. 8:250-62 (2001).
23. Gnirke A, Melnikov A, Maguire J, Rogov P, LeProust EM, Brockman W, Fennell T, Giannoukos G, Fisher S, Russ C, Gabriel S, Jaffe DB, Lander ES, Nusbaum C. Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol. 27:182-9 (2009).
24. Wu TD, Nacu S. Fast and SNP-tolerant detection of complex variants and splicing in short reads. Bioinformatics. 2010 Apr 1;26(7):873-81. PMID: 20147302.
25. Wu TD, Watanabe CK. GMAP: a genomic mapping and alignment program for mRNA and EST sequences. Bioinformatics. 2005 May 1;21(9):1859-75. PMID:15728110.
26. Sugarbaker DJ, Richards WG, Gordon GJ, Dong L, De Rienzo A, Maulik G, Glickman JN, Chirieac LR, Hartman ML, Taillon BE, Du L, Bouffard P, Kingsmore SF, Miller NA, Farmer AD, Jensen RV, Gullans SR, Bueno R. Transcriptome sequencing of malignant pleural mesothelioma tumors. Proc. Natl Acad. Sci. USA 105, 3521-3526 (2008).
27. Miller NA, Kingsmore SF, Farmer A, Langley RJ, Mudge J, Crow JA, Gonzalez AJ, Schilkey FD, Kim RJ, van Velkinburgh J, May GD, Black CF, Myers MK, Utsey JP, Frost NS, Sugarbaker DJ, Bueno R, Gullans SR, Baxter SM, Day SW, Retzel EF. Management of high-throughput DNA sequencing projects: Alpheus. J. Comput. Sci. Syst. Biol. 1, 132-148 (2008).
28. Mudge J, Miller NA, Khrebtukova I, Lindquist IE, May GD, Huntley JJ, Luo S, Zhang L, van Velkinburgh JC, Farmer AD, Lewis S, Beavis WD, Schilkey FD, Virk SM, Black CF, Myers MK, Mader LC, Langley RJ, Utsey JP, Kim RW, Roberts RC, Khalsa SK, Garcia M, Ambriz-Griffith V, Harlan R, Czika W, Martin S, Wolfinger RD, Perrone-Bizzozero NI, Schroth GP, Kingsmore SF. Genomic convergence analysis of schizophrenia: mRNA sequencing reveals altered synaptic vesicular transport in post-mortem cerebellum. PLoS One. 2008;3(11):e3625. PMID:18985160.
29. Kim JI, Ju YS, Park H, Kim S, Lee S, Yi JH, Mudge J, Miller NA, Hong D, Bell CJ, Kim HS, Chung IS, Lee WC, Lee JS, Seo SH, Yun JY, Woo HN, Lee H, Suh D, Lee S, Kim HJ, Yavartanoo M, Kwak M, Zheng Y, Lee MK, Park H, Kim JY, Gokcumen O, Mills RE, Zaranek AW, Thakuria J, Wu X, Kim RW, Huntley JJ, Luo S, Schroth GP, Wu TD, Kim H, Yang KS, Park WY, Kim H, Church GM, Lee C, Kingsmore SF, Seo JS. A highly-annotated, whole-genome sequence of a Korean Individual. Nature 460:1011-5 (2009).
30. Baranzini SE, Mudge J, van Velkinburgh JC, Khankhanian P, Khrebtukova I, Miller NA, Zhang L, Farmer AD, Bell CJ, Kim RW, May GD, Woodward JE, Caillier SJ, McElroy JP, Gomez R, Pando MJ, Clendenen LE, Ganusova EE, Schilkey FD, Ramaraj T, Khan OA, Huntley JJ, Luo S, Kwok PY, Wu TD, Schroth GP, Oksenberg JR, Hauser SL, Kingsmore SF. Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis. Nature 464:1351-6 (2010).
31. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. Am J Hum Genet. 1995 Nov;57(5):1233-41.
32. Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med. 2008 Apr;10(4):294-300.
33. M. S. Watson, M. A. Lloyd-Puryear, M. Y. Mann, P. Rinaldo, R. R. Howell, Main report. Genet. Med. 8, 12S-252S (2006).
34. ACMG Laboratory Practice Committee Working Group. Recommendations for standards for interpretation of sequence variations. Genet Med 2000;2:302-303.
35. Clinical and Laboratory Standards Institute. MDx Methods for Genetic Diseases; Second Edition. Clinical and Laboratory Standards Institute. ISBN 1-56238-615-8. 940 West Valley Road, Suite 1400, Wayne, Pennsylvania 19087. 2006.
36. Costa T, Scriver CR, Childs B. The effect of Mendelian disease on human health: A measurement. Am J Med Genet. 1985 21:243-55. PMID: 4014311.
37. McCandless SE, Brunger JW, Cassidy SB. The burden of genetic disease on inpatient care in a children's hospital. Am J. Hum. Genet. 74:121-127 (2004). PMID: 14681831
38. Lialiaris T, Mantadakis E, Kareli D, Mpountoukas P, Tsalkidis A, Chatzimichail A. Frequency of genetic diseases and health coverage of children requiring admission in a general pediatric clinic of northern Greece. Ital J Pediatr. 2010 36:9. PMID: 20205810
39. Watson, M.S., Lloyd-Puryear, M.A., Mann, M.Y., Rinaldo, P., Howell, R.R. Newborn screening main report. Genetics in Medicine. 8:12S-252S (2006).
40. Berry RJ, Buehler JW, Strauss LT, et al. 1987. Birth weight-specific infant mortality due to congenital abnormalities, 1960 and 1980. Public Health Report 102:171-81.
41. ACOG Committee on Genetics. ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol. 114:950-3 (2009).
42. ACOG Committee on Genetics. ACOG committee opinion. No. 338: Screening for fragile X syndrome. Obstet Gynecol. 107:1483-5 (2006).
43. ACOG Committee on Genetics. ACOG Committee Opinion. Number 325, December 2005. Update on carrier screening for cystic fibrosis. Obstet Gynecol. 106:1465-8 (2005).
44. Board of Directors of the American College of Medical Genetics. Position Statement on Carrier Testing for Canavan Disease. January 10,1998. Available at http://www.acmg.net/StaticContent/StaticPages/Canavan.pdf
45. Kingsmore SF, Saunders CJ, Deep sequencing of patient genomes for disease diagnosis: When will it become routine? Sci Transl Med. 2011 Jun 15;3(87):87ps23.