Issues in genetic testing

Abstract

The field of genetic testing has evolved rapidly, with a host of challenges that are new. The American Association for Clinical Chemistry's Eighth Clinical Chemistry Forum addressed some of the current issues in genetic testing. The exciting meeting highlighted the dynamic state of genetic testing, with the unraveling of the human genome assuredly adding a broad spectrum of new diagnostic tests. However, the issue of how to manage the often conflicting demands of confidentiality of patient information on the one hand and a patient's need to know genetic findings on the other has not been satisfactorily resolved. Genetic test results have a potential impact beyond those involved in managing a single patient. Genetic tests detect predisposition to disease, which may or may not lead to actual disease, in effect making an entire family the patient. The tests may detect presymptomatic diseases, raising new issues of patient management. Congress is making efforts to address the confidentiality of genetic information. In some proposed bills, only genetic test results are considered, whereas in others, all medical information is considered. Several states are ahead of Congress in addressing the issues, and unless Congress moves rapidly and acts decisively, the result could be a plethora of different laws with different requirements. A further challenge with genetic tests is to ensure proper reimbursement. Such tests typically are new and initially will not be seen by third-party payers as having have demonstrated clinical value; however, many of these tests will be needed clinically.