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Medical genetics: 3. An approach to the adult with a genetic disorder

Dr. Gilchrist is Associate Professor, Departments of Medicine and Medical Genetics, University of Alberta, Edmonton, Alta.

Series editor: Dr. Judith Hall

Correspondence to: Dr. Dawna Gilchrist, 2E3.28 WCM, University of Alberta, Edmonton AB T6G 2R7; fax 780 407-2680; dawna.gilchrist{at}ualberta.ca

Abstract

MANY GENETIC DISORDERS DO NOT MANIFEST themselves until the adult years. Such disorders often involve multiple genetic factors interacting with multiple environmental factors, over time, to produce a phenotype. This paper reviews the modes of inheritance of genetic disorders and describes the types of genetic testing that are currently available. It offers clues that should lead physicians to suspect that an adult patient might have a genetic disorder and raises issues that should be considered in counselling the patient about genetic testing. Resources for patients and their family physicians are also discussed.

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