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Ch. 22 - Applications of Genetic Engineering and Biotechnology
Klug - Concepts of Genetics  12th Edition
Klug12th EditionConcepts of Genetics ISBN: 9780135564776Not the one you use?Change textbook
Chapter 22, Problem 9d

Which of the examples of genetic testing below are prognostic tests? Which are diagnostic?
Genetic testing in a healthy teenager identifies an SNP correlated with autism.

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Understand the difference between prognostic and diagnostic tests: Prognostic tests predict the likelihood of developing a condition in the future, while diagnostic tests confirm the presence of a condition in an individual who is already showing symptoms.
Analyze the scenario: The genetic testing identifies a single nucleotide polymorphism (SNP) correlated with autism in a healthy teenager. This means the teenager does not currently exhibit symptoms of autism.
Determine the type of test: Since the teenager is healthy and the test is identifying a genetic marker associated with a potential future condition, this test is considered prognostic rather than diagnostic.
Consider the implications: Prognostic tests like this one provide information about genetic predisposition but do not confirm the presence of the condition itself.
Conclude the classification: Based on the analysis, the genetic testing described in the problem is a prognostic test, not a diagnostic test.

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Prognostic Testing

Prognostic testing assesses the likelihood of developing a disease or condition in the future based on genetic markers. These tests help predict the risk of disease onset, allowing for early intervention or monitoring. For example, identifying a single nucleotide polymorphism (SNP) associated with autism in a healthy individual can indicate a potential risk, but it does not confirm the presence of the condition.
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Diagnostic Testing

Diagnostic testing is used to confirm or rule out a specific genetic condition in individuals who are symptomatic or at risk. These tests provide definitive information about the presence of a disease, often guiding treatment decisions. Unlike prognostic tests, diagnostic tests focus on identifying existing conditions rather than predicting future risks.
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Single Nucleotide Polymorphism (SNP)

A single nucleotide polymorphism (SNP) is a variation at a single position in a DNA sequence among individuals. SNPs can influence how individuals respond to diseases, medications, and environmental factors. In the context of genetic testing, identifying an SNP associated with a condition like autism can provide insights into genetic predispositions, but it is important to interpret these findings within a broader context of genetic and environmental interactions.
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Textbook Question

Which of the examples of genetic testing below are prognostic tests? Which are diagnostic?

Individual sequencing (personal genomics) identifies a mutation associated with Alzheimer's disease.

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Textbook Question

Which of the examples of genetic testing below are prognostic tests? Which are diagnostic?

ASO testing determines that an individual is a carrier for the mutant β-globin allele (βˢ) found in sickle-cell anemia.

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Textbook Question

Which of the examples of genetic testing below are prognostic tests? Which are diagnostic?

DNA sequencing of a breast tumor reveals mutations in the BRCA1 gene.

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Textbook Question

Which of the examples of genetic testing below are prognostic tests? Which are diagnostic?

An adult diagnosed with Asperger syndrome (AS) has a genetic test that reveals an SNP in the GABRB3 gene that is significantly more common in people with AS than the general population.

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Textbook Question

Does genetic analysis by ASO testing allow for detection of epigenetic changes that may contribute to a genetic disorder? Explain your answer.

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Textbook Question

Maternal blood tests for three pregnant women revealed they would be having boys, yet subsequent ultrasound images showed all three were pregnant with girls. In each case Y chromosome sequences in each mother's blood originated from transplanted organs they had received from men! This demonstrates one dramatic example of a limitation of genetic analysis of maternal blood samples. What kind of information could have been collected from each mother in advance of these tests to better inform physicians prior to performing each test?

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