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Volumn 4, Issue 3, 2016, Pages 292-302

Carrier screening by next-generation sequencing: Health benefits and cost effectiveness

Author keywords

Carrier screening; Cost effectiveness; Genotyping; Next generation sequencing

Indexed keywords


EID: 84990022105     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.204     Document Type: Article
Times cited : (50)

References (41)
  • 1
    • 70349678533 scopus 로고    scopus 로고
    • ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent
    • American Congress of Obstetricians and Gynecologists. 2009. ACOG Committee Opinion No. 442: preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet. Gynecol. 114:950-953.
    • (2009) Obstet. Gynecol , vol.114 , pp. 950-953
  • 2
    • 79953212970 scopus 로고    scopus 로고
    • ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis
    • American Congress of Obstetricians and Gynecologists. 2011. ACOG Committee Opinion No. 486: update on carrier screening for cystic fibrosis. Obstet. Gynecol. 117:1028-1031.
    • (2011) Obstet. Gynecol , vol.117 , pp. 1028-1031
  • 3
    • 52449104802 scopus 로고    scopus 로고
    • American College of Medical Genetics: Technical standards and guidelines for CFTR mutation testing: 2006 Edition [Online]
    • Bethesda, MD, (accessed 20 June 2014)
    • Amos, J., G. L. Feldman, W. W. Grody, K. Monaghan, G. E. Palomaki, and T. Prior. 2006. American College of Medical Genetics: technical standards and guidelines for CFTR mutation testing: 2006 Edition [Online]. American College of Medical Genetics, Bethesda, MD. Available at https://www.acmg.net/Pages/ACMG_Activities/stds-2002/cf.htm (accessed 20 June 2014).
    • (2006) American College of Medical Genetics
    • Amos, J.1    Feldman, G.L.2    Grody, W.W.3    Monaghan, K.4    Palomaki, G.E.5    Prior, T.6
  • 4
    • 84898037210 scopus 로고    scopus 로고
    • United States life tables, 2009. National Center for Health Statistics
    • Hyattsville, MD
    • Arias, E. 2014. United States life tables, 2009. National Center for Health Statistics, Hyattsville, MD. Available at http://www.cdc.gov/nchs/data/nvsr/nvsr62/nvsr62_07.pdf. Natl. Vital Stat. Rep. 62:1-63.
    • (2014) Natl. Vital Stat. Rep , vol.62 , pp. 1-63
    • Arias, E.1
  • 6
    • 84879487413 scopus 로고    scopus 로고
    • Non-invasive prenatal testing for aneuploidy: Current status and future prospects
    • Benn, P., H. Cuckle, and E. Pergament. 2013. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet. Gynecol. 42:15-33.
    • (2013) Ultrasound Obstet. Gynecol , vol.42 , pp. 15-33
    • Benn, P.1    Cuckle, H.2    Pergament, E.3
  • 8
    • 84868151670 scopus 로고    scopus 로고
    • Model parameter estimation and uncertainty analysis: A report of the ISPOR-SMDM Modeling Good Research Practices Task Force Working Group-6
    • Briggs, A. H., M. C. Weinstein, E. A. Fenwick, J. Karnon, M. J. Sculpher, and A. D. Paltiel. 2012. Model parameter estimation and uncertainty analysis: a report of the ISPOR-SMDM Modeling Good Research Practices Task Force Working Group-6. Med. Decis. Making 32:722-732.
    • (2012) Med. Decis. Making , vol.32 , pp. 722-732
    • Briggs, A.H.1    Weinstein, M.C.2    Fenwick, E.A.3    Karnon, J.4    Sculpher, M.J.5    Paltiel, A.D.6
  • 9
    • 0030064794 scopus 로고    scopus 로고
    • Prenatal screening for cystic fibrosis: 5 years’ experience reviewed
    • Brock, D. J. 1996. Prenatal screening for cystic fibrosis: 5 years’ experience reviewed. Lancet 347:148-150.
    • (1996) Lancet , vol.347 , pp. 148-150
    • Brock, D.J.1
  • 10
    • 84896339928 scopus 로고    scopus 로고
    • Questionnaire to assess relevance and credibility of modeling studies for informing health care decision making: An ISPOR-AMCP-NPC Good Practice Task Force report
    • Caro, J., D. M. Eddy, H. Kan, C. Kaltz, B. Patel, R. Eldessouki, et al. 2014. Questionnaire to assess relevance and credibility of modeling studies for informing health care decision making: an ISPOR-AMCP-NPC Good Practice Task Force report. Value Health 17:174-182.
    • (2014) Value Health , vol.17 , pp. 174-182
    • Caro, J.1    Eddy, D.M.2    Kan, H.3    Kaltz, C.4    Patel, B.5    Eldessouki, R.6
  • 11
    • 0036086034 scopus 로고    scopus 로고
    • Type I glycogen storage diseases: Disorders of the glucose-6-phosphatase complex
    • Chou, J. Y., D. Matern, B. C. Mansfield, and Y. T. Chen. 2002. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr. Mol. Med. 2:121-143.
    • (2002) Curr. Mol. Med , vol.2 , pp. 121-143
    • Chou, J.Y.1    Matern, D.2    Mansfield, B.C.3    Chen, Y.T.4
  • 12
    • 85063920180 scopus 로고    scopus 로고
    • The universal genetic test-disease book v1.0.55. Counsyl, Inc., Redwood City, CA
    • Counsyl, 2010. The universal genetic test-disease book v1.0.55. Counsyl, Inc., Redwood City, CA.
    • (2010)
  • 13
    • 85063920312 scopus 로고    scopus 로고
    • Carrier screening of 48,761 patients in the IVF setting utilizing next generation DNA sequencing detects common, rare and otherwise undetectable pathogenic variants in prevalent, society-recommended diseases
    • Abstract P-18. Presented at the 63rd Annual Meeting of the Pacific Coast Reproductive Society, March 11-15
    • Davie, J., N. Faulkner, and V. Greger. 2015. Carrier screening of 48,761 patients in the IVF setting utilizing next generation DNA sequencing detects common, rare and otherwise undetectable pathogenic variants in prevalent, society-recommended diseases. Abstract P-18. Presented at the 63rd Annual Meeting of the Pacific Coast Reproductive Society, March 11-15, 2015. Fertil. Steril. 103(2 Suppl):e17.
    • (2015) Fertil. Steril , vol.103
    • Davie, J.1    Faulkner, N.2    Greger, V.3
  • 14
    • 0036206760 scopus 로고    scopus 로고
    • Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population
    • Edelmann, L., J. Dong, R. J. Desnick, and R. Kornreich. 2002. Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. Am. J. Hum. Genet. 70:1023-1027.
    • (2002) Am. J. Hum. Genet , vol.70 , pp. 1023-1027
    • Edelmann, L.1    Dong, J.2    Desnick, R.J.3    Kornreich, R.4
  • 16
    • 84865127702 scopus 로고    scopus 로고
    • Clinical and cost consequences of incorporating a novel non-invasive prenatal test into the diagnostic pathway for fetal trisomies
    • Garfield, S. S., and S. O. Armstrong. 2012. Clinical and cost consequences of incorporating a novel non-invasive prenatal test into the diagnostic pathway for fetal trisomies. J. Managed Care Med. 15:34-41.
    • (2012) J. Managed Care Med , vol.15 , pp. 34-41
    • Garfield, S.S.1    Armstrong, S.O.2
  • 18
    • 38149050660 scopus 로고    scopus 로고
    • Carrier screening in individuals of Ashkenazi Jewish descent
    • Gross, S. J., B. A. Pletcher, K. G. Monaghan, and Professional Practice Guidelines Committee. 2008. Carrier screening in individuals of Ashkenazi Jewish descent. Genet. Med. 10:54-56.
    • (2008) Genet. Med , vol.10 , pp. 54-56
    • Gross, S.J.1    Pletcher, B.A.2    Monaghan, K.G.3
  • 19
    • 84894063593 scopus 로고    scopus 로고
    • Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing
    • Hallam, S., H. Nelson, V. Greger, C. Perreault-Micale, J. Davie, N. Faulkner, et al. 2014. Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing. J. Mol. Diagn. 16:180-189.
    • (2014) J. Mol. Diagn , vol.16 , pp. 180-189
    • Hallam, S.1    Nelson, H.2    Greger, V.3    Perreault-Micale, C.4    Davie, J.5    Faulkner, N.6
  • 20
    • 0035746484 scopus 로고    scopus 로고
    • Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel
    • Heim, R. A., E. A. Sugarman, and B. A. Allitto. 2001. Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel. Genet. Med. 3:168-176.
    • (2001) Genet. Med , vol.3 , pp. 168-176
    • Heim, R.A.1    Sugarman, E.A.2    Allitto, B.A.3
  • 21
    • 84902032340 scopus 로고    scopus 로고
    • Pagon, R. A., Adam, M. P., Ardinger, H. H., et al. eds. Gene reviews® [Internet]. University of Washington, Seattle, WA, (accessed 5 January 2015)
    • Kaback, M. M. & R. J. Desnick. 1999. [Updated 2011]. Hexosaminidase A deficiency. in: Pagon, R. A., Adam, M. P., Ardinger, H. H., et al. eds. Gene reviews [Internet]. University of Washington, Seattle, WA. Available at http://www.ncbi.nlm.nih.gov/books/NBK1218/ (accessed 5 January 2015)
    • (1999) Hexosaminidase a Deficiency
    • Kaback, M.M.1    Desnick, R.J.2
  • 22
    • 2942711850 scopus 로고    scopus 로고
    • Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia
    • Ki, C. S., S. H. Han, H. J. Kim, S. G. Lee, E. J. Kim, J. W. Kim, et al. 2004. Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia. Clin. Genet. 65:487-489.
    • (2004) Clin. Genet , vol.65 , pp. 487-489
    • Ki, C.S.1    Han, S.H.2    Kim, H.J.3    Lee, S.G.4    Kim, E.J.5    Kim, J.W.6
  • 23
    • 0032513540 scopus 로고    scopus 로고
    • 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
    • Kronn, D., V. Jansen, and H. Ostrer. 1998. 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. 158:777-781.
    • (1998) Arch. Intern. Med , vol.158 , pp. 777-781
    • Kronn, D.1    Jansen, V.2    Ostrer, H.3
  • 24
    • 0034908911 scopus 로고    scopus 로고
    • Prevalence and patterns of presentation of genetic disorders in a pediatric emergency department
    • Kumar, P., J. Radhakrishnan, M. A. Chowdhary, and P. F. Giampietro. 2001. Prevalence and patterns of presentation of genetic disorders in a pediatric emergency department. Mayo Clin. Proc. 76:777-783.
    • (2001) Mayo Clin. Proc , vol.76 , pp. 777-783
    • Kumar, P.1    Radhakrishnan, J.2    Chowdhary, M.A.3    Giampietro, P.F.4
  • 25
    • 84931083784 scopus 로고    scopus 로고
    • Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide
    • Lebo, R. V., and V. S. Tonk. 2015. Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide. J. Transl. Med. 13:16.
    • (2015) J. Transl. Med , vol.13 , pp. 16
    • Lebo, R.V.1    Tonk, V.S.2
  • 26
    • 0142209180 scopus 로고    scopus 로고
    • Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III
    • Ness, S. L., T. Ben-Yosef, A. Bar-Lev, A. C. Madeo, C. C. Brewer, K. B. Avraham, et al. 2003. Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J. Med. Genet. 40:767-772.
    • (2003) J. Med. Genet , vol.40 , pp. 767-772
    • Ness, S.L.1    Ben-Yosef, T.2    Bar-Lev, A.3    Madeo, A.C.4    Brewer, C.C.5    Avraham, K.B.6
  • 27
    • 0029658241 scopus 로고    scopus 로고
    • Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews
    • Nestorowicz, A., B. A. Wilson, K. P. Schoor, H. Inoue, B. Glaser, H. Landau, et al. 1996. Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum. Mol. Genet. 5:1813-1822.
    • (1996) Hum. Mol. Genet , vol.5 , pp. 1813-1822
    • Nestorowicz, A.1    Wilson, B.A.2    Schoor, K.P.3    Inoue, H.4    Glaser, B.5    Landau, H.6
  • 28
    • 77449084881 scopus 로고    scopus 로고
    • Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: Analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis
    • Park, N. J., C. Morgan, R. Sharma, Y. Li, R. M. Lobo, J. B. Redman, et al. 2010. Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis. Pediatr. Res. 67:217-220.
    • (2010) Pediatr. Res , vol.67 , pp. 217-220
    • Park, N.J.1    Morgan, C.2    Sharma, R.3    Li, Y.4    Lobo, R.M.5    Redman, J.B.6
  • 29
    • 84908100929 scopus 로고    scopus 로고
    • Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F
    • Perreault-Micale, C., A. Frieden, C. J. Kennedy, D. Neitzel, J. Sullivan, N. Faulkner, et al. 2014. Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F. J. Mol. Diagn. 16:673-678.
    • (2014) J. Mol. Diagn , vol.16 , pp. 673-678
    • Perreault-Micale, C.1    Frieden, A.2    Kennedy, C.J.3    Neitzel, D.4    Sullivan, J.5    Faulkner, N.6
  • 30
    • 84977835792 scopus 로고    scopus 로고
    • A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility
    • Perreault-Micale, C., J. Davie, B. Breton, S. Hallam, and V. Greger. 2015. A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility. Mol. Genet. Genomic Med. 3:363-373.
    • (2015) Mol. Genet. Genomic Med , vol.3 , pp. 363-373
    • Perreault-Micale, C.1    Davie, J.2    Breton, B.3    Hallam, S.4    Greger, V.5
  • 31
    • 37349031084 scopus 로고    scopus 로고
    • Economic evaluation of cystic fibrosis screening: A review of the literature
    • Radhakrishnan, M., K. van Gool, J. Hall, M. Delatycki, and J. Massie. 2008. Economic evaluation of cystic fibrosis screening: a review of the literature. Health Policy 85:133-147.
    • (2008) Health Policy , vol.85 , pp. 133-147
    • Radhakrishnan, M.1    Van Gool, K.2    Hall, J.3    Delatycki, M.4    Massie, J.5
  • 33
    • 0032231384 scopus 로고    scopus 로고
    • Prenatal screening for cystic fibrosis carriers: An economic evaluation
    • Rowley, P. T., S. Loader, and R. M. Kaplan. 1998. Prenatal screening for cystic fibrosis carriers: an economic evaluation. Am. J. Hum. Genet. 63:1160-1174.
    • (1998) Am. J. Hum. Genet , vol.63 , pp. 1160-1174
    • Rowley, P.T.1    Loader, S.2    Kaplan, R.M.3
  • 34
    • 0034596493 scopus 로고    scopus 로고
    • Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years’ experience and impact on prenatal diagnosis
    • Scotet, V., M. de Braekeleer, M. Roussey, G. Rault, P. Parent, M. Dagorne, et al. 2000. Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years’ experience and impact on prenatal diagnosis. Lancet 356:789-794.
    • (2000) Lancet , vol.356 , pp. 789-794
    • Scotet, V.1    De Braekeleer, M.2    Roussey, M.3    Rault, G.4    Parent, P.5    Dagorne, M.6
  • 35
    • 0041563997 scopus 로고    scopus 로고
    • Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France
    • Scotet, V., M. P. Audrezet, M. Roussey, G. Rault, M. Blayau, M. de Braekeleer, et al. 2003. Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France. Hum. Genet. 113:280-285.
    • (2003) Hum. Genet , vol.113 , pp. 280-285
    • Scotet, V.1    Audrezet, M.P.2    Roussey, M.3    Rault, G.4    Blayau, M.5    De Braekeleer, M.6
  • 36
    • 78049440186 scopus 로고    scopus 로고
    • Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases
    • Scott, S. A., L. Edelmann, L. Liu, M. Luo, R. J. Desnick, and R. Kornreich. 2010. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum. Mutat. 31:1240-1250.
    • (2010) Hum. Mutat , vol.31 , pp. 1240-1250
    • Scott, S.A.1    Edelmann, L.2    Liu, L.3    Luo, M.4    Desnick, R.J.5    Kornreich, R.6
  • 37
    • 0030892816 scopus 로고    scopus 로고
    • Preimplantation diagnosis and other reproductive options: Attitudes of male and female carriers of recessive disorders
    • Snowdon, C., and J. M. Green. 1997. Preimplantation diagnosis and other reproductive options: attitudes of male and female carriers of recessive disorders. Hum. Reprod. 12:341-350.
    • (1997) Hum. Reprod , vol.12 , pp. 341-350
    • Snowdon, C.1    Green, J.M.2
  • 38
    • 84880304596 scopus 로고    scopus 로고
    • Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population
    • Song, K., T. J. Musci, and A. B. Caughey. 2013. Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population. J. Matern. Fetal Neonatal Med. 26:1180-1185.
    • (2013) J. Matern. Fetal Neonatal Med , vol.26 , pp. 1180-1185
    • Song, K.1    Musci, T.J.2    Caughey, A.B.3
  • 40
    • 85063920188 scopus 로고    scopus 로고
    • Victor Center for the Prevention of Jewish Genetic Diseases [Online]. Victor Center, Philadelphia, PA, (accessed 5 January 2015)
    • Victor Center. 2015. Victor Center for the Prevention of Jewish Genetic Diseases [Online]. Victor Center, Philadelphia, PA. Available at http://www.victorcenters.org/(accessed 5 January 2015)
    • (2015)
  • 41
    • 4644361735 scopus 로고    scopus 로고
    • Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
    • Watson, M. S., G. R. Cutting, R. J. Desnick, D. A. Driscoll, K. Klinger, M. Mennuti, et al. 2004. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet. Med. 6:387-391.
    • (2004) Genet. Med , vol.6 , pp. 387-391
    • Watson, M.S.1    Cutting, G.R.2    Desnick, R.J.3    Driscoll, D.A.4    Klinger, K.5    Mennuti, M.6


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