From GWAS, how do we know which genes are associated with a particular genetic disorder?
Table of contents
- 1. Introduction to Genetics51m
- 2. Mendel's Laws of Inheritance3h 37m
- 3. Extensions to Mendelian Inheritance2h 41m
- 4. Genetic Mapping and Linkage2h 28m
- 5. Genetics of Bacteria and Viruses1h 21m
- 6. Chromosomal Variation1h 48m
- 7. DNA and Chromosome Structure56m
- 8. DNA Replication1h 10m
- 9. Mitosis and Meiosis1h 34m
- 10. Transcription1h 0m
- 11. Translation58m
- 12. Gene Regulation in Prokaryotes1h 19m
- 13. Gene Regulation in Eukaryotes44m
- 14. Genetic Control of Development44m
- 15. Genomes and Genomics1h 50m
- 16. Transposable Elements47m
- 17. Mutation, Repair, and Recombination1h 6m
- 18. Molecular Genetic Tools19m
- 19. Cancer Genetics29m
- 20. Quantitative Genetics1h 26m
- 21. Population Genetics50m
- 22. Evolutionary Genetics29m
18. Molecular Genetic Tools
Methods for Analyzing DNA
Problem E.4
Textbook Question
What is the statistical principle underlying genetic health risk assessment? Why are these assessments not predictive of disease occurrence?

1
Understand that genetic health risk assessment is based on the principle of probability and statistics, which estimate the likelihood of developing a disease based on the presence of certain genetic variants in a population.
Recognize that these assessments use data from population studies, such as genome-wide association studies (GWAS), to calculate risk scores by comparing the frequency of genetic markers in affected versus unaffected individuals.
Note that the risk provided is a statistical probability, not a certainty, because it reflects increased or decreased chances rather than a definitive outcome for an individual.
Consider that genetic risk assessments do not account for environmental factors, lifestyle, gene-gene interactions, and epigenetic modifications, all of which can influence whether a disease actually develops.
Conclude that because of the complex interplay between genes and other factors, genetic health risk assessments are useful for estimating risk but cannot predict with certainty if or when a disease will occur.

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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Statistical Probability in Genetic Risk Assessment
Genetic health risk assessments use statistical probability to estimate the likelihood that an individual will develop a certain disease based on genetic variants. These probabilities are derived from population studies and reflect risk, not certainty, indicating how often a genetic variant is associated with disease occurrence.
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Multifactorial Nature of Disease
Most common diseases result from complex interactions between multiple genes and environmental factors. Because genetic variants are only one part of this interplay, genetic risk assessments cannot definitively predict disease but rather indicate increased or decreased risk.
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Penetrance and Expressivity
Penetrance refers to the proportion of individuals with a particular genetic variant who actually express the associated trait or disease, while expressivity describes the variability in symptoms. Incomplete penetrance and variable expressivity limit the predictive power of genetic risk assessments.
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