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

Klug 12th Edition

Ch. 22 - Applications of Genetic Engineering and Biotechnology

Problem 18

Chapter 22, Problem 18

The National Institutes of Health created the Genetic Testing Registry (GTR) to increase transparency by publicly sharing information about the utility of their tests, research for the general public, patients, health-care workers, genetic counselors, insurance companies, and others. The Registry is intended to provide better information to patients, but companies involved in genetic testing are not required to participate. Should company participation be mandatory? Why or why not? Explain your answers.

Verified step by step guidance

Understand the purpose of the Genetic Testing Registry (GTR): The GTR is designed to increase transparency and provide accessible information about genetic tests to various stakeholders, including patients, healthcare workers, and genetic counselors.

Consider the benefits of mandatory participation: Mandatory participation could ensure that all genetic testing companies provide standardized and reliable information, improving patient decision-making and fostering trust in genetic testing.

Evaluate potential drawbacks of mandatory participation: Some companies may view mandatory participation as a regulatory burden, potentially stifling innovation or creating resistance within the industry.

Analyze ethical considerations: Reflect on whether mandatory participation aligns with ethical principles such as beneficence (doing good for patients) and autonomy (allowing companies to make independent decisions).

Formulate a balanced conclusion: Weigh the pros and cons of mandatory participation, considering the impact on patients, companies, and the broader healthcare system, before arriving at a reasoned stance on the issue.

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Key Concepts

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

Genetic Testing

Genetic testing involves analyzing an individual's DNA to identify genetic disorders, predispositions to diseases, or carrier status for certain conditions. This testing can provide valuable information for personal health management and decision-making, but it also raises ethical considerations regarding privacy, consent, and the implications of test results.

Transparency in Healthcare

Transparency in healthcare refers to the openness and clarity with which health-related information is shared among patients, providers, and stakeholders. In the context of genetic testing, transparency ensures that patients have access to reliable information about tests, their purposes, and potential outcomes, which can empower informed decision-making and foster trust in healthcare systems.

Regulatory Framework for Genetic Testing

The regulatory framework for genetic testing encompasses the laws and guidelines that govern the development, approval, and marketing of genetic tests. This framework is crucial for ensuring the safety, efficacy, and ethical use of genetic tests, and it influences whether participation in registries like the GTR should be mandatory for companies, balancing public health interests with industry innovation.

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Textbook Question

The family of a sixth-grade boy in Palo Alto, California, was informed by school administrators that he would have to transfer out of his middle school because they believed his mutation of the CFTR gene, which does not produce any symptoms associated with cystic fibrosis, posed a risk to other students at the school who have cystic fibrosis. After missing 11 days of school, a settlement was reached to have the boy return to school. What ethical problems might you associate with this example?

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Textbook Question

Dominant mutations can be categorized according to whether they increase or decrease the overall activity of a gene or gene product. Although a loss-of-function mutation (a mutation that inactivates the gene product) is usually recessive, for some genes, one dose of the normal gene product, encoded by the normal allele, is not sufficient to produce a normal phenotype. In this case, a loss-of-function mutation in the gene will be dominant, and the gene is said to be haploinsufficient. A second category of dominant mutation is the gain-of-function mutation, which results in a new activity or increased activity or expression of a gene or gene product. The gene therapy technique currently being used in clinical trials involves the 'addition' to somatic cells of a normal copy of a gene. In other words, a normal copy of the gene is inserted into the genome of the mutant somatic cell, but the mutated copy of the gene is not removed or replaced. Will this strategy work for either of the two aforementioned types of dominant mutations?

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Textbook Question

In 2013 the actress Angelina Jolie elected to have prophylactic double-mastectomy surgery to prevent breast cancer based on a positive test for mutation of the BRCA1 gene. What are some potential positive and negative consequences of this high-profile example of acting on the results of a genetic test?

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Textbook Question

Should the FDA regulate direct-to-consumer genetic tests, or should these tests be available as a 'buyer beware' product?

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Textbook Question

Would you have your genome sequenced, if the price was affordable? Why or why not? If you answered yes, would you make your genome sequence publicly available? How might such information be misused?

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Textbook Question

Following the tragic shooting of 20 children at a school in Newtown, Connecticut, in 2012, Connecticut's state medical examiner requested a full genetic analysis of the killer's genome. What do you think investigators might be looking for? What might they expect to find? Might this analysis lead to an oversimplified analysis of the cause of the tragedy?

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