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Genetic Diagnosis and Testing in Clinical Practice

Elizabeth McPherson, MD; Medical Genetics Services, Marshfield Clinic, 1000 N. Oak Avenue, Marshfield, WI 54449

Reprint Requests: Dr. Elizabeth McPherson, Medical Genetics Services, Marshfield Clinic, 1000 North Oak Avenue, Marshfield, WI 54449, Tel: 715-221-7400; Fax: 715-389-4399; E-mail: mcpherson.elizabeth{at}marshfieldclinic.org

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.

Key Words: Apo E • BRCA • Charcot-Marie-Tooth • DNA • Factor V Leiden • Genetic testing • Hereditary hemochromatosis • Huntington’s disease • Marfan syndrome • Predictive testing