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Ch. 15 - Recombinant DNA Technology and Its Applications
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
All textbooksSanders 3rd EditionCh. 15 - Recombinant DNA Technology and Its ApplicationsProblem E.4
Chapter 15, Problem E.4

What is the statistical principle underlying genetic health risk assessment? Why are these assessments not predictive of disease occurrence?

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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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Related Practice
Textbook Question

Ligase catalyzes a reaction between the 5′ phosphate and the 3′ hydroxyl groups at the ends of DNA molecules. The enzyme calf intestinal phosphatase catalyzes the removal of the 5′5′ phosphate from DNA molecules. What would be the consequence of treating a cloning vector, before ligation, with calf intestinal phosphatase?

Textbook Question

The human genome is 3×10⁹ bp in length.

How would your initial answer change if you knew that the average GC content of the human genome was 40%?

Textbook Question

What is the exclusion principle? How is it used in forensic genetic analysis and in paternity determination?

Textbook Question

You have constructed four different libraries: a genomic library made from DNA isolated from human brain tissue, a genomic library made from DNA isolated from human muscle tissue, a human brain cDNA library, and a human muscle cDNA library.

Which of these would have the greatest diversity of sequences?

Textbook Question

You have constructed four different libraries: a genomic library made from DNA isolated from human brain tissue, a genomic library made from DNA isolated from human muscle tissue, a human brain cDNA library, and a human muscle cDNA library.

Would the sequences contained in each library be expected to overlap completely, partially, or not at all with the sequences present in each of the other libraries?

Textbook Question

Explain the meaning of 'identity by descent' in the context of identifying genealogical relationship between individuals. In these analyses, why are segments of chromosomes (haplotypes) rather than individual STRs used to identify genetic relationships?

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