Chapter 10. Carrier Screening

  1. Neil F. Sharpe3,
  2. Prof. Dr. Ronald F. Carter PhD., FCCMG., FACMG Director4,5
  1. C. Anthony Rupar PhD, FCCMG Associate Professor Biochemistry, Pediatrics, and Pathology Chairman, Division of Clinical Biochemistry Medical Leader1,
  2. Lynn Holt2,
  3. Bruce R. Korf2

Published Online: 4 JAN 2006

DOI: 10.1002/0471748897.ch10

Book Title

Genetic Testing: Care, Consent, and Liability

Genetic Testing: Care, Consent, and Liability

Additional Information

How to Cite

Sharpe, N. F. and Carter, R. F. (2006) Carrier Screening, in Genetic Testing: Care, Consent, and Liability, John Wiley & Sons, Inc., Hoboken, NJ, USA. doi: 10.1002/0471748897.ch10

Author Information

  1. 3

    Genetic Testing Research Group, 117 Inchbury Street, Hamilton, Ontario, Canada L8R 3B7; 1-905-529-2036; 1-905-577-6446 (fax)

  2. 4

    Department of Pathology and Molecular Medicine, McMaster University, HSC 3N15, 1200 Main Street West, Hamilton, Ontario, Canada; 1-905-521-5084; 1-905-521-2651 (fax)

  3. 5

    Genetic Services, Hamilton Health Sciences, Canada

Author Information

  1. 1

    Molecular Pathology, Child and Parent Resource Institute, University of Western Ontario and the London Health Sciences Centre, London, Ontario, Canada

  2. 2

    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA

Publication History

  1. Published Online: 4 JAN 2006
  2. Published Print: 11 NOV 2005

ISBN Information

Print ISBN: 9780471649878

Online ISBN: 9780471748892

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Keywords:

  • Ashkenazi Jewish;
  • autosomal recessive;
  • carrier;
  • congenital hypothyroidism cystic fibrosis;
  • deafness;
  • detection rate (DR);
  • false positive rate (FPR);
  • fragile X newborn;
  • hemachromatosis;
  • hemoglobinopathies;
  • MCAD deficiency;
  • medical malpractice;
  • negative predictive value;
  • negligence;
  • neonatal screening;
  • newborn screening;
  • odds of being affected for a positive result (OAPR);
  • phenylketonuria (PKU);
  • positive predictive value screening;
  • screen positivity;
  • sensitivity;
  • specificity;
  • tandem mass spectroscopy (TMS)

Summary

New testing methodologies permit a rapidly expanding menu of screening techniques for genetic diseases in the prenatal, newborn, and adult populations. Tandem mass spectroscopy has markedly increased the number of genetic disorders that potentially can be incorporated into newborn screening. Adult carrier screening is discussed in detail for cystic fibrosis, hemachromatosis, hemoglobinopathies, and other disorders. A review is provided of the relevant criteria for selecting diseases to be screened, the limitations of genetic tests that address only a component of the overall mutation spectrum for a given disease, and related educational and informed consent issues.

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