From the Human Genome to Clinicai Practice

Abstract

Current knowledge of the human genome is briefly described, as well as the limitations of its practical use by the clinician in patients. There is presently a Jarge gap between what the molecular geneticists promise, (such promises are included in research projects under way or still in a blue-print stage) and what is really available for diagnosis and treatment. Bioethical issues aside, practitioners should be aware of the usefulness and limitations of genetic testing in clinicai practice, and the need for a well-defined set of rufes before requesting a given test. This includes a precise definition of the heredity pattern for each condition and the diagnostic and treatment alternatives suggested by each result. Practitioners should have working information about the tests currently offered, know the exact indications for each one, and be prepared for the issues eventually raised by the interpretation of expected results.

New diagnostic molecular tests will be very helpful, especially when used judiciously. However, more than in any other medical field, it is necessary to know when and how to request these tests: their use should be included in a strict scheme of study and follow-up.