Types of Genetic Tests and Issues Associated with the Interpretation of Their Results

Abstract

With continued development and availability of genetic test offerings, there will be greater need for physicians to help their patients interpret their results and to know when it is appropriate to refer to a genetic specialist. In addition, physicians should be able to understand the process whereby basic research discoveries are translated into clinically useful genetic tests. This chapter describes the genetic tests that are most commonly used in research and clinical settings, as well as by genetic testing companies, including some that advertise their services directly to consumers. We discuss the specific type of genetic variation that each test assesses, along with several principles that must be taken into account in order to correctly interpret the clinical significance of a genetic test result. The chapter also describes the process that is used to evaluate the clinical utility of newly developed genetic tests, and provides the reader with websites that maintain up-to-date information regarding the genetic tests that are available in all fields of medicine.