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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 9c

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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1
Understand the difference between prognostic and diagnostic tests: Diagnostic tests are used to identify the presence of a disease or condition, while prognostic tests predict the likely course or outcome of a disease.
Analyze the context of the example: DNA sequencing of a breast tumor is performed to identify mutations in the BRCA1 gene, which is associated with breast cancer.
Determine if the test is diagnostic: If the sequencing is used to confirm the presence of a BRCA1 mutation in the tumor, it is diagnostic because it identifies a specific genetic alteration linked to the disease.
Determine if the test is prognostic: If the sequencing is used to assess how the BRCA1 mutation might influence the progression, severity, or treatment response of the breast cancer, it is prognostic.
Conclude the classification: Based on the purpose of the test (diagnosis or prediction of disease outcome), classify the example as either diagnostic or prognostic.

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Key Concepts

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

Prognostic vs. Diagnostic Testing

Prognostic tests are used to predict the likely course or outcome of a disease, while diagnostic tests are designed to confirm the presence of a disease or condition. Understanding the distinction is crucial for interpreting genetic testing results, as it informs treatment decisions and patient management.
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BRCA1 Gene and Its Role in Cancer

The BRCA1 gene is a critical gene involved in the repair of DNA breaks. Mutations in this gene are associated with an increased risk of breast and ovarian cancers. Identifying mutations in BRCA1 through genetic testing can provide insights into a patient's cancer risk and inform both prognostic and diagnostic evaluations.
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DNA Sequencing

DNA sequencing is a method used to determine the exact sequence of nucleotides in a DNA molecule. In the context of genetic testing, sequencing can identify specific mutations that may be linked to diseases, helping to classify whether a test is prognostic or diagnostic based on the findings and their implications for patient care.
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