Chapter 11. Susceptibility Testing

  1. Neil F. Sharpe2,
  2. Prof. Dr. Ronald F. Carter PhD., FCCMG., FACMG Director3,4
  1. Anne Summers MD, FRCPC Director of Genetics

Published Online: 4 JAN 2006

DOI: 10.1002/0471748897.ch11

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) Susceptibility Testing, in Genetic Testing: Care, Consent, and Liability, John Wiley & Sons, Inc., Hoboken, NJ, USA. doi: 10.1002/0471748897.ch11

Author Information

  1. 2

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

  2. 3

    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. 4

    Genetic Services, Hamilton Health Sciences, Canada

Author Information

  1. North York General Hospital, Toronto, Ontario, Canada

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:

  • Alpha-1-antitrypsin deficiency (AAT);
  • BRCA1;
  • BRCA2;
  • cancer syndromes;
  • colorectal cancer;
  • discrimination;
  • expression;
  • expressivity;
  • familial adenomatous polyposis (FAP);
  • genetic determinism;
  • hereditary breast and ovarian cancer;
  • heritability;
  • hereditary hemochromatosis;
  • pedigree;
  • penetrance;
  • predictability;
  • prevention;
  • psychological;
  • risk perception;
  • risk reduction;
  • stigmatization;
  • susceptibility;
  • susceptibility testing of children

Summary

Susceptibility testing of people at increased risk for cancer syndromes is described, including management issues arising from pedigree-based and test-based risk estimation, the implications of positive, negative, and uninformative test results, principles of counseling, and susceptibility testing of minors for diseases of adult onset. The feasibility of susceptibility testing depends upon genetic (heritability, number of different genes, accuracy of test protocols, penetrance/expresssivity of mutations), clinical (options for surveillance and primary prevention, clinical value of intervention), and social (discrimination, stigmatization, psychological benefit and harm) considerations.

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