Management of Genetic Diseases

The management of genetic disease can be divided into  counseling, diagnosis, and treatment. In brief, the  fundamental purpose of genetic counseling is to help theindividual or family understand their risks and options and to empower them to make informed decisions. Diagnosis of genetic disease is sometimes clinical, basedon  the presence of a given set of symptoms, and sometimes molecular, based on the presence of a recognized gene mutation, whether clinical symptoms are present or not. The cooperation of family members may be required to achieve diagnosis for a given individual, and, once accurate diagnosis of that individual has been determined, there may be implications for the diagnoses of otherfamily members. Balancing privacy  issues within a family with the ethical need to inform individuals who are atrisk for a particular genetic disease  can become extremely complex. Although effective treatments exist for some genetic diseases, for others there are none. It is perhaps  this latter set of disorders that raises the most troubling questionswith regard to presymptomatic testing, because  phenotypically healthy individuals can be put in the position ofhearing that they are going to become ill and potentially die and that there is nothing they or anyone else can do to stop it. Fortunately, with time and research, this set of disorders is slowly becoming smaller.