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Ch. 16 - Genomics: Genetics from a Whole-Genome Perspective
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. 16 - Genomics: Genetics from a Whole-Genome PerspectiveProblem B.13
Chapter 16, Problem B.13

Imagine yourself in the same position as Kristen Powers, faced with the decision of whether or not to undergo a genetic test that will discover if you have inherited Huntington disease. List five life decisions or choices that you think are likely to be affected by the results of the genetic test. Do you think you would make the same choice to test that Kristen made? Why or why not?

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Understand the nature of Huntington disease: it is a genetic disorder caused by a dominant allele, meaning that inheriting one copy of the mutated gene will likely result in developing the disease later in life.
Consider how a positive or negative test result could influence major life decisions, such as family planning (deciding whether to have biological children), career choices (choosing jobs with health benefits or less physical/mental stress), financial planning (saving for future medical care), lifestyle changes (adopting healthier habits), and psychological preparation (coping with the knowledge of potential disease onset).
Reflect on the emotional and ethical implications of knowing your genetic status, including the impact on relationships, privacy concerns, and potential discrimination, which might affect your decision to undergo testing.
Evaluate the pros and cons of taking the genetic test, such as the benefit of early awareness and planning versus the anxiety or stress that might come from knowing a positive result.
Formulate a personal stance on whether you would choose to be tested, based on your values, support system, and how you weigh the benefits and risks of knowing your genetic information.

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Key Concepts

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

Genetic Testing and Inheritance

Genetic testing identifies whether an individual carries specific inherited mutations, such as the one causing Huntington disease, which is autosomal dominant. Understanding inheritance patterns helps predict the likelihood of developing the disease and informs personal and family health decisions.
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Psychological and Ethical Implications of Genetic Information

Receiving genetic test results can have profound emotional effects, including anxiety or relief, and raises ethical questions about privacy, discrimination, and the right to know or not know one’s genetic status. These factors influence decisions about testing and disclosure.
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Impact of Genetic Information on Life Planning

Knowledge of a genetic condition like Huntington disease can affect major life choices such as career planning, family planning, financial management, and healthcare decisions. Anticipating disease onset may lead to proactive steps to manage or prepare for future challenges.
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Related Practice
Textbook Question

When comparing genes from two sequenced genomes, how does one determine whether two genes are orthologous? What pitfalls arise when one or both of the genomes are not sequenced?

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Textbook Question

What is a reference genome? How can it be used to survey genetic variation within a species?

Textbook Question

The two-hybrid method facilitates the discovery of protein–protein interactions. How does this technique work? Can you think of reasons for obtaining a false-positive result, that is, where the proteins encoded by two clones interact in the two-hybrid system but do not interact in the organism in which they naturally occur? Can you think of reasons you might obtain a false-negative result, in which the two proteins interact in vivo but fail to interact in the two-hybrid system?

Textbook Question

Go to http://blast.ncbi.nlm.nih.gov/Blast.cgi and follow the links to nucleotide BLAST. Type in the sequence below; it is broken up into codons to make it easier to copy.

5' ATG TTC GTC AAT CAG CAC CTT TGT GGT TCT CAC CTC GTT GAA GCTTTG TAC CTT GTT TGC GGT GAA CGT GGT TTC TTC TAC ACT CCT AAG ACT TAA 3'

As you will note on the BLAST page, there are several options for tailoring your query to obtain the most relevant information. Some are related to which sequences to search in the database. For example, the search can be limited taxonomically (e.g., restricted to mammals) or by the type of sequences in the database (e.g., cDNA or genomic). For our search, we will use the broadest database, the 'Nucleotide collection (nr/nt).' This is the nonredundant (nr) database of all nucleotide data (nt) in GenBank and can be selected in the 'Database' dialogue box. Other parameters can also be adjusted to make the search more or less sensitive to mismatches or gaps. For our purposes, we will use the default setting, which is automatically presented. Press 'BLAST' to search. What can you say about the DNA sequence?

Textbook Question

Select one of the hereditary conditions from either the RUSP core conditions list or the RUSP list of secondary conditions and do some online research to find the following information:

The symptoms and consequences of the condition if it is not treated.

Textbook Question

Select one of the hereditary conditions from either the RUSP core conditions list or the RUSP list of secondary conditions and do some online research to find the following information:

The defect that characterizes the condition.

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