THEO 353 Lecture Notes - Lecture 16: Angelina Jolie, Prenatal Diagnosis, Genetic Testing
21 Feb 2020
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Three types of genetic tests: presymptomatic testing, primarily carried out in healthy or asymptomatic individuals, provide information about that individual"s future health, with respect to specific inherited diseases. False positive: test result erroneously indicating the presence of a genetic condition. False negative: test result erroneously indicating the absence of a genetic condition. Late onset diseases: diseases that normally become symptomatic in adult life. Single-gene diseases: hereditary diseases caused by a mutation in a single gene, more than 4,000 such diseases have been described in humans. Multifactorial diseases: genetic components work with other, often environmental, factors in determining a disease outcome. Includes many cardiovascular diseases, most incidents of alzheimer"s disease, some forms of diabetes. Some carriers of a mutation may pass the mutation on to offspring, but never develop the disease themselves. Newborn screening: involves a blood test to detect disorders not apparent at birth e. g. metabolic disorders or hemoglobin disorders.
