ABSTRACT
Genetic counselors are Masters-level healthcare professionals with advanced training in medical genetics and counseling. These professionals specialize in the analysis of medical and family history information to formulate a genetic risk assessment. They educate patients and other members of the patient's healthcare team about genetic disorders and their inheritance patterns. They help guide patients in making well-informed decisions about the screening and diagnostic testing options that are most congruent with the patient's values and goals based on their specific medical and family history. Genetic counselors work in an assortment of settings including university medical centers, private medical offices, diagnostic and research laboratories, health maintenance organizations, government agencies, advocacy groups or not-for-profit organizations, and in private practice. Areas of practice include preconception/prenatal, pediatric, adult, and general genetics care. There are growing numbers of specialties, such as cancer, neurology, cardiology, ophthalmology, dermatology, psychiatry, and infertility/assisted reproductive technologies, pharmacogenomics, precision medicine and disease specific clinics. With the expanding utilization of preimplantation genetic testing (PGT), genetic counselors are increasingly becoming part of the reproductive medicine healthcare team. This chapter focuses on the training and practice of genetic counselors in the United States, where the field has historically been more commonly incorporated into healthcare, but has wider implications for the practice of genetic counseling in other countries.
