Endocrine Abstracts

Prevention of disease or severe complications is the intended hallmark of modern medicine. Currently available diagnostic methods allow the early recognition of an increasing number of diseases allowing timely treatment and hopefully better long-term outcomes. The best examples of this strategy are genetic diseases and every week the genetic cause for another disease is identified. Therefore, the understanding of the practicing clinician the nature and pitfalls of genetic testing is greater than ever. In general, the threshold for genetic testing lies at least in the range of 2–10% positive results, but of course is influenced by the clinical impact a diagnosis makes on the future health of a patient and the patient’s family. Genetic testing should only be recommended if there is either evidence or logical support that it will reduce morbidity or mortality for the patient or other family members or significantly would affect life choices. Often the benefit of testing will be rather in cascade family screening of, to date, unaffected individuals than for the patient itself. In other cases, there are treatment decisions that are influenced by genetic testing. Understanding the various genetic terms are crucial for the interpretation of the test result and the correct advice for the patient. The power of newer types of genetic testing also brings the problem of interpretation of rare variants into the clinical setting. In this interactive session we will systematically go through the most important issues an endocrinologist should understand and will illustrate the points with examples from endocrine genes and diseases.