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Probability and likelihood in genetic counselling.
1Department of Community Medicine, University of Cambridge, England.
Clinical Genetics
|October 1, 1989
Summary
This paper clarifies risk calculation in genetic counseling, emphasizing probability and likelihood. It discusses interpretation challenges and the need for assumed prior probabilities in complex genetic risk assessments.
Area of Science:
- Genetics
- Biostatistics
- Medical Ethics
Background:
- Genetic counseling relies on accurate risk assessment.
- Interpreting statistical measures of risk can be complex.
- Previous statistical debates (e.g., Fisher-Neyman) inform current methods.
Purpose of the Study:
- To clarify concepts in genetic risk calculation.
- To review the use of probability and likelihood in risk assessment.
- To discuss interpretation challenges and potential ethical dilemmas.
Main Methods:
- Review of probability and likelihood concepts.
- Application of likelihood to risk probabilities.
- Discussion of inferential statistical methods (e.g., fiducial inference).
Main Results:
- Risk is best measured by probability.
- Likelihood offers a technical approach to risk probabilities.
- Distinctions are necessary between calculating risk and inferring genotypes.
- Non-1:1 relationships between parameters and risk pose challenges.
Conclusions:
- Prior probabilities may need to be assumed for risk assessment.
- The paper serves as a guide for discussing complex risk calculation issues.
- Understanding these concepts is crucial for informed genetic counseling and ethical considerations.