Skip to main content
SpringerLink
Log in

Expanded carrier screening panels—does bigger mean better?

  • Commentary
  • Published:
Journal of Community Genetics Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  • ATS/ERS Statement (2003) American thoracic society/European respiratory society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 168:818–900

    Article  Google Scholar 

  • Bach G, Zeigler M, Zlotogora J (2007) Prevention of lysosomal storage disorders in Israel. Mol Genet Metab 90:353–357

    Article  CAS  PubMed  Google Scholar 

  • Baruch S, Pollitz K, Gruber J (2008) GINA Q and a transcript. Genet Public Policy Cent 3(2008):1–9

    Google Scholar 

  • Beaudet A (1990) Invited editorial: carrier screening for cystic fibrosis. Am J Hum Genet 47:603–605

    CAS  PubMed Central  PubMed  Google Scholar 

  • Bell C, Dinwiddie D, Miller N, Hateley S, Ganusova E, Mudge J et al (2011) Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 3:65ra4

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Borry P, Hennemen L, Lakeman P, Kate L, Cornel M, Howard H (2011) Preconception genetic carrier testing and the commercial offer directly-to-consumers. Hum Reprod 26(5):972–977. doi:10.1093/humrep/der042

    Google Scholar 

  • Caskey CT, Kaback MM, Beaudet AL (1990) The American society of human genetics statement on cystic fibrosis screening. Am J Hum Genet 46:393

    CAS  PubMed Central  PubMed  Google Scholar 

  • Castellani C, Macek M, Cassiman J, Duff A, Massie J, Kate L, Barton D, Cutting G, Dallapiccola B et al (2010) Benchmarks for cystic fibrosis carrier screening: a European consensus document. J Cyst Fibros 9:165–178

    Article  PubMed  Google Scholar 

  • Committee Opinion 469 (2010) Carrier screening for fragile X syndrome. Obstet Gynecol 116(4):1008–1010

    Article  Google Scholar 

  • Committee Opinion 432 (2009) Spinal muscular atrophy. Obstet Gynecol 113(5):1194–1196

    Article  Google Scholar 

  • Committee Opinion 442 (2009) Preconception and prenatal carrier screening for genetic diseases in individuals of eastern European Jewish descent. Obstet Gynecol 14(4):950–953

    Google Scholar 

  • Committee Opinion 486 (2011) Update on carrier screening for cystic fibrosis. Obstet Gynecol 117(4):1028–1031

    Article  Google Scholar 

  • Darcy D, Tian L, Taylor J, Schrijver I (2011) Cystic fibrosis carrier screening in obstetric clinical practice: knowledge, practices, and barriers, a decade after publication of screening guidelines. GenetTest Mol Biomarkers 15(7–8):517–523

    Article  Google Scholar 

  • de Serres FJ, Blanco I, Fernandez-Bustillo E (2010) Ethnic differences in alpha-1 antitrypsin deficiency in the United States of America. Ther Adv Respir Dis 4:63–70

    Article  PubMed  Google Scholar 

  • Dondorp W, de Wert G (2013) The “thousand-dollar genome”: an ethical exploration. Eur J Hum Genet 21:S6–S26

    Article  PubMed  Google Scholar 

  • ESHG (2010) Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes. Eur J Hum Genet 18:1271–1273

    Article  Google Scholar 

  • Evans P (2011) Looking ahead, looking behind. Genet Med 13(3):177–178. doi:10.1097/GIM.0b013e318210b0a7

    Google Scholar 

  • Grody W, Cutting G, Klinger K, Richards C, Watson M, Desnick R (2001) Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 3(2):149–154

    Article  CAS  PubMed  Google Scholar 

  • Grody W, Thompson B, Gregg A, Bean L, Monaghan K, Schneider A, Lebo R (2013) ACMG position statement on prenatal/preconception expanded carrier screening. Genet Med 15:482–483

    Article  CAS  PubMed  Google Scholar 

  • Henneman L, Bramsen I, Van Der Ploeg HM, Ten Kate LP (2002) Preconception cystic fibrosis carrier couple screening: impact, understanding and satisfaction. Genet Test 6:195–202

    Article  CAS  PubMed  Google Scholar 

  • Jahnke CM, Stark E, Terry SF, Bonhomme N (2012) Is this a genesis in prenatal testing: genomic knowledge, risk or benefit? Genet Test Mol Biomarkers 16(12):1347–1348

    Article  PubMed  Google Scholar 

  • Karem B, Rommens J, Buchanan J, Markiewicz D, Cox T, Chakravarti A (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245(4922):1073–1080

    Article  Google Scholar 

  • Lazarin GA, Haque IS, Nazareth S, Lori K, Patterson AS, Jacobson JL et al (2012) An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,452 individuals. Genet Med 15(3):178–186. doi:10.1038/gim.2012.114

    Article  PubMed Central  PubMed  Google Scholar 

  • Levenson D. (2010). New test could make carrier screening more accessible. The AJMG SEQUENCE, vii-viii

  • Lewis C, Skirton H, Jones R (2012) Reproductive empowerment: the main motivator and outcome of carrier testing. J Heal Psychol 17:567–578

    Article  Google Scholar 

  • McGee D, Schwarz L, McClure R, Peterka L, Rouhani F, Brantly M, Strange C (2010) Is PiSS alpha-1 antitrypsin deficiency associated with disease? Pulm Med. doi:10.1155/2010/570679

    PubMed Central  PubMed  Google Scholar 

  • Prior T (2008) Carrier screening for spinal muscular atrophy. Genet Med 10(11):840–842

    Article  PubMed Central  PubMed  Google Scholar 

  • Rosner G, Rosner S, Orr-Urtreger A (2009) Genetic testing in Israel: an overview. Annu Rev Genom Human Genet 10:175–192

    Article  CAS  Google Scholar 

  • Srinivasan B, Evans EA, Flannick J, Patterson AS, Chang CC, Pham T et al (2010) A universal carrier test for the long tail of Mendelian disease. Reprod BioMed Online 21:537–551

    Article  PubMed  Google Scholar 

  • Stoller, Aboussouan (2012) A review of α1-antitrypsin deficiency. Concise clinical review. Am J Repiratory Crit Care Med 185(3):246–259. doi:10.1164/rccm.201108-1428CI

    Article  CAS  Google Scholar 

  • Sveger T (1976) Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med 294:1316–1321

    Article  CAS  PubMed  Google Scholar 

  • Sveger T, Thelin T (2000) A future for neonatal α1-antitrypsin screening? Acta Paediatr 89:628–631

    Article  CAS  PubMed  Google Scholar 

  • Tatsugawa ZH, Fox MA, Fang CY, Novak JM, Cantor RM, Bass HN et al (1994) Education and testing strategy for large-scale cystic fibrosis carrier screening. J Genet Couns 3:279–289

    Article  CAS  PubMed  Google Scholar 

  • Teckman JH (2007) α1-Antitrypsin deficiency in childhood. Sem Liver Dis 27(3):274–281. doi:10.1055/s-2007-985072

    Article  CAS  Google Scholar 

  • Van El C, Cornel M, on behalf of ESHG PPPC (2011) Genetic testing and common disorders in a public health framework. Eur J Hum Genet 19:S1–S5

    Article  PubMed Central  Google Scholar 

  • Van El C, Cornel M, Borry P, Hastings R, Fellmann F, Hodgson S, Howard H et al (2013) Whole-genome sequencing in health care. Eur J Hum Genet 21:580–584

    PubMed  Google Scholar 

Download references

Compliance with ethics guidelines

All research done in the development of this article complied with the current laws of the USA.

Author information

Authors and Affiliations

  1. Division of Pulmonary & Critical Care, Medical University of South Carolina, Charleston, SC, USA

    Sara Wienke & Charlie Strange

  2. Department of Women’s Services, Medical University of South Carolina, Charleston, SC, USA

    Kimberly Brown

  3. Department of Genetics, University of Alabama, Birmingham, AL, USA

    Meagan Farmer

  4. Department of Medicine, Division of Pulmonary, Medical University of South Carolina, Charleston, SC, 29425, USA

    Sara Wienke

Authors
  1. Sara Wienke
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Kimberly Brown
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Meagan Farmer
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Charlie Strange
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Sara Wienke.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Wienke, S., Brown, K., Farmer, M. et al. Expanded carrier screening panels—does bigger mean better?. J Community Genet 5, 191–198 (2014). https://doi.org/10.1007/s12687-013-0169-6

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12687-013-0169-6

Keywords

Search

Navigation