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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
Chapter 16, Problem B.14e

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 duration of treatment

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1
Identify a hereditary condition from the Recommended Uniform Screening Panel (RUSP) core or secondary conditions list. Examples include Phenylketonuria (PKU), Cystic Fibrosis, or Sickle Cell Disease.
Research reliable sources such as medical databases, genetics textbooks, or official health organization websites to gather information about the chosen condition.
Focus specifically on finding details about the duration of treatment for the condition. Treatment duration can vary depending on the condition's nature, severity, and patient response.
Summarize the treatment duration, noting whether it is lifelong, time-limited, or variable based on individual cases.
Optionally, note any factors that influence treatment duration, such as age at diagnosis, treatment adherence, or advancements in therapy.

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Key Concepts

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

Newborn Screening and the RUSP

The Recommended Uniform Screening Panel (RUSP) is a list of core and secondary conditions that newborns are screened for across the United States. It guides early detection of genetic and metabolic disorders to enable timely intervention. Understanding RUSP helps contextualize why certain hereditary conditions are prioritized for screening.
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Hereditary Conditions and Genetic Basis

Hereditary conditions are disorders passed from parents to offspring through genes. These conditions often involve mutations affecting protein function or metabolism. Recognizing the genetic basis is essential for understanding disease mechanisms and the rationale behind treatment strategies.
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Treatment Duration and Management of Genetic Disorders

Treatment duration for hereditary conditions varies widely, from lifelong management to limited courses of therapy. It depends on the nature of the disorder, severity, and available interventions. Knowing treatment timelines is crucial for patient care planning and evaluating prognosis.
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Related Practice
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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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.

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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 recommended treatment for those with the condition.

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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 anticipated outcome if treatment is applied

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Textbook Question

Diseases and conditions on the RUSP list are tested on every newborn infant, and if the baby has one of the conditions, the parents are immediately informed. What kind of information and counseling should be provided to the parents along with the diagnosis?

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Textbook Question

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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