Genetic counseling.

Abstract

Medical professionals and the public are rapidly becoming aware of the overwhelming influence that an individual's genetic constitution has on fetal health and mortality, congenital malformations, cancer and other chronic diseases. Great strides have been made in recognizing and understanding modes of inheritance that had not previously been well described. Besides single-gene disorders, genetic conditions are known to be caused by a variety of different mechanisms: chromosome microdeletions and fragility, multifactorial inheritance, mitochondrial genes, triplet repeat expansions, imprinting, and uniparental disomy. Because of the complexity of genetic information, an extensive discussion is often necessary to sort out advertising, news information, and personal health concerns to enable individuals to make decisions for themselves about the various options available for testing and treatment. Genetic counseling has developed as a discipline in response to the need to educate patients, families and professionals about genetic mechanisms and their application in health care. In the future, we anticipate that the emphasis will be on primary care physicians as health-care managers, and genetic counselors will be required to educate individuals about their personal risks of inherited disorders and the implications for future generations. Genetic counseling is a process of medical education based upon empathy, patient autonomy and confidentiality in an atmosphere of empathy, support and understanding. This profession combines the knowledge of complex medical and genetic theory with the skills of a concerned, supportive counselor.