Molecular genetic testing for adult-onset disorders: the evolving laboratory, physician, patient interface

Molecular genetics is providing the power to predict and diagnose a variety of diseases. This is an evolving field, with new information being gained at a very rapid rate. Ultimately the molecular tools should be available to prevent and/or cure a number of diseases with genetic etiology. The molecular genetics laboratory is playing a pivotal role in effecting the utilization of this technology. However, molecular genetic testing is in many ways unlike other clinical laboratory testing. The process of molecular genetic testing and counseling is complex. The laboratory offering molecular genetic testing must be able to assess pedigrees, decide the proper test to perform and provide interpretation of the tests results obtained. Although standards governing the use of high-complexity genetic tests are evolving it is clear that the laboratory offering these tests will have to have on staff personnel trained specifically in molecular genetics. The challenge will be to stay abreast of evolving technology as well as standards and recommendations governing the use of these tests. We will review the process of molecular genetic testing and the issues that must be considered by laboratories who offer these tests.