SOC 280 Genetic Testing and Diagnosis
SOC 280 Genetic Testing and Diagnosis
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SOC 280 Genetic Testing and Diagnosis
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Genetic testing is defined as “the analysis of human DNA, RNA, chromosomes, proteins and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes or karyotypes for clinical purposes.” This article focuses on diagnostic and predictive genetic testing. The latter includes presymptomatic testing, which identifies individuals who are expected to become ill in the future and predisposition testing, which identifies those who are at increased risk of becoming ill. Decisions regarding genetic testing must be based not only on the analytic accuracy, availability and cost of the test, but on the clinical utility as well, including the sensitivity, specificity and interpretability of results. Clinical information, including the medical and family history and the findings of the physical examination, is vital for the selection of appropriate diagnostic tests, as well as the interpretation of the results. Presymptomatic genetic testing is a very personal choice that should only be made after the patient has had sufficient counseling to develop an understanding of the risks and benefits of the test and is able to make an informed decision. The same principle applies to predisposition testing; however, additional factors, such as the probability of a positive result, the likelihood that the disease will actually develop in those with positive results, the effect on the management of the index patient, the effects on family members, the risk of false reassurance if the result is negative or the potential for loss of hope if it is positive, all contribute to the assessment of risk versus benefit. Clinical evaluation and counseling of the patient who is at risk for a genetic disorder are labor intensive but essential for the selection and interpretation of genetic tests.
WHAT IS GENETIC TESTING?
In order to talk about genetic diagnoses and testing, we first need to agree upon what is meant by genetic testing. Genetic diagnoses do not always depend on karyotype or DNA studies. They can be made by a variety of means, including the physical examination, family history, routine hematology, chemistry or pathology studies, and radiological and electrophysiological examinations. For example, an insurance company that does not cover the cost of genetic tests cannot decline payment for a physical examination because it happened to reveal skin lesions diagnostic for neurofibromatosis. Similarly, an institutional review board that requires informed consent for genetic testing certainly cannot require informed consent for a chest X-ray that shows situs inversus and bronchiectasis leading to a diagnosis of Kartagener syndrome. These examples were chosen because they illustrate how standard medical care can lead to definitive genetic diagnoses.
SOC 280 Genetic Testing and Diagnosis Essay
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