Genetic Counseling The Discipline and the Provider

Genetic counseling is a relatively new and rapidly evolving healthcare service that is increasing in demand as we enter the new era of genomic medicine. Genetic counseling evolved as a combination of disciplines, medical genetics and counseling theory. The original definition of genetic counseling focused on communicating medical information and inheritance and recurrence risk to patients, along with presenting options for responding to the risk in a nondirective manner and helping patients adjust to their conditions.1 As the practice of genetic counseling has grown over the past 30 years, so have the goals and scope of practice.

As our knowledge of genetic disorders and complex inheritance patterns has expanded, so have the options for molecular-based genetic testing. With this growth, complex ethical and social issues have come to the forefront, such as genetic discrimination. As medical research has advanced, we have come to appreciate the strong influence of genetics in common disorders, such as cancer, diabetes, Alzheimer disease, asthma, and hypercholesterolemia. The burden of passing on an abnormal gene or trait is not limited to individuals and families faced with rare disorders of Mendelian inheritance. It is a reality for everyone. Increasing anxiety about genetic risk for disease and concern about passing on abnormal genes to future generations for common conditions has expanded the need for genetic counseling. There are now subspecialties of genetic counseling, such as prenatal, pediatric, cancer, and neuro-genetics. Genetic counselors also are working in clinical molecular diagnostic laboratories providing information and education to the patients and physicians who request tests and try to interpret test results. It has been suggested that by the year 2010 predictive genetic tests will be available for about a dozen common conditions, with interventions and treatments for those who are identified as being at risk.2

Genetic counseling is typically provided by specialty-trained healthcare professionals, usually medical geneticists and genetic counselors. Medical geneticists are physicians from various disciplines such as obstetrics, pediatrics, and internal medicine who have obtained specialty training in medical genetics and are board certified by the American Board of Medical Genetics. Genetic counselors generally have a master's degree in genetic counseling, human genetics, or a closely related discipline and are board certified by the American Board of Genetic Counseling.

As genomic medicine evolves into mainstream healthcare, there will be increasing demand for genetic testing, especially related to preventive medicine and pharmacogenetics. Most if not all healthcare providers will need some genetic training to be able to consider appropriate testing for patients, interpret the clinical significance of test results, and in complicated situations provide appropriate referrals to genetic health professionals. Genetic counselors are playing a key role in the genetic education of healthcare providers and are facing a growing group of patients concerned about genetic risk and contemplating complex medical decisions for almost every type of disorder through various stages of the life cycle.

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