Chapter 13. Risk Assessment

  1. Neil F. Sharpe2,
  2. Prof. Dr. Ronald F. Carter PhD., FCCMG., FACMG Director3,4
  1. Peter J. Bridge Associate Professor,
  2. Jillian S. Parboosingh Assistant Professor

Published Online: 4 JAN 2006

DOI: 10.1002/0471748897.ch13

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) Risk Assessment, in Genetic Testing: Care, Consent, and Liability, John Wiley & Sons, Inc., Hoboken, NJ, USA. doi: 10.1002/0471748897.ch13

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. Molecular Diagnostic Laboratory, Alberta Children's Hospital, Calgary, Alberta, and Department of Medical Genetics, University of Calgary, Alberta, 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:

  • Alport syndrome;
  • Bayesian;
  • BRCA1;
  • BRCA2;
  • conditional probability;
  • congenital adrenal hypertrophy;
  • counseling;
  • cystic fibrosis;
  • Huntington disease;
  • joint probability;
  • linkage analysis;
  • missense mutations;
  • molecular genetic tests;
  • posterior probabilities;
  • prior probability;
  • risk calculation;
  • sequence variation

Summary

Risk assessments based upon family history information are commonly refined by genetic test results, e.g. testing informative individuals to determine if a genetic disease is present, testing persons at risk for carrying a mutation, or testing persons at risk for the disease in question. Health care professionals need to be able to understand the limitations of genetic tests, and to know exactly how much a test result modifies the patient's risk. Bayesian analysis, a mathematical approach to quantifying conditional probabilities, is commonly applied in situations where a laboratory result does not provide a conclusive “yes” or “no” answer. Worked examples are provided in a how-to discussion of common testing situations.

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