Chapter 39 : Bioethics Case Study: Genetic Testing

Abstract:

In this chapter, students are asked to use the decision-making model to analyze ethical dilemmas related to newer capacities to test for genetic defects. Before the students tackle ethical dilemmas posed by genetic testing, you should provide information that allows them to place ethical issues associated with genetic testing in context. A first step to informed discussion of genetic testing is establishing a semantic distinction between genetic testing, gene (or genetic marker) identification, and genetic screening. For purposes of this chapter's discussion, genetic testing is referred to a diagnostic test, usually ordered by a physician, to test for a specific genetic disorder because the physician thinks there is a good chance the person might have the defective gene. With the older testing technologies, in order to diagnose a genetic disease, physicians had to have a measurable or observable phenotype that was consistently associated with the genetic defect. Now, however, with only partial DNA sequences of disease genes or nearby marker sequences, physicians can diagnose genetic diseases long before symptoms appear. A table illustrates legally mandated neonatal screening for genetic disorders. The chapter presents two case studies for application of the model. To follow the methodology outlined in the model, students must have a basic knowledge of cystic fibrosis (CF), including its genetic basis, symptoms, and treatments and the prognosis for patients who suffer from the disease.