Genetic counselling

Genetic counseling is the process by which the patients or relatives at risk of an inherited disorder are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning. This complex process can be separated into diagnostic (the actual estimation of risk) and supportive aspects.

The National Society of Genetic Counselors (NSGC) officially defines genetic counseling as the understanding and adaptation to the medical, psychological and familial implications of genetic contributions to disease. This process integrates:

A genetic counselor is an expert with a Master of Science degree in genetic counseling. In the United States they are certified by the American Board of Genetic Counseling.[1] In Canada, genetic counselors are certified by the Canadian Association of Genetic Counsellors. Most enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public health and social work. Genetic counselors should be expert educators, skilled in translating the complex language of genomic medicine into terms that are easy to understand.

Genetic counselors work as members of a health care team and act as patient advocates as well as genetic resources to physicians. Genetic counselors provide information and support to families who have members with birth defects or genetic disorders, and to families who may be at risk for a variety of inherited conditions. They identify families at risk, investigate the problems present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence, and review available genetic testing options with the family.

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