Genetic counseling

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]


Genetic counseling is the process by which 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 in order to prevent, avoid or ameliorate it. This complex process can be seen from diagnostic (the actual estimation of risk) and supportive aspects.

Who provides it?

Genetic counseling is usually provided by genetic counselors. Genetic counselors are present at high risk or specialty prenatal clinics that offer prenatal diagnosis, pediatric care centers, and adult genetic centers.

A genetic counselor is a medical genetics expert with a master of science degree. In the USA they are certified by the American Board of Genetic Counseling [2]. Most enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public health and social work.

Genetic counselors work as members of a health care team and act as a patient advocate as well as a genetic resource 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 testing options with the family.

Prenatal Testing

Genetic counseling can occur before conception (i.e. when one or two of the parents are carriers of a certain trait), during pregnancy (i.e. if the woman will be over 35 at delivery, if a woman wants prenatal testing, or if an abnormality is noted on an ultrasound, or in a test result), after birth (if a birth defect is seen), during childhood (i.e. if the child has developmental delay, or a genetic syndrome), or adulthood (for adult onset genetic conditions such as Huntington's disease or hereditary cancer syndromes).

Receivers of genetic counseling

A person may be referred for genetic counseling if pregnant and undergoing prenatal testing or screening. Genetic counselors educate the patient about their testing options and inform them of their results of testing. If a prenatal screen or test is abnormal, the genetic counselor evaluates the risk of an affected pregnancy, educates the patient about these risks, and informs the patient of their options.

A person may also undergo genetic counseling after the birth of a child with a genetic condition. In these instances, the genetic counselor explains the condition to the patient along with recurrence risks in future children. In all cases of a positive family history for a condition, the genetic counselor can evaluate risks, recurrence, and act as a resource for the patient.

Certain ethnic groups are at higher risk for certain genetic conditions. People in high risk groups may be an asymptomatic carrier of a condition, but when two carriers have children together, the children may be affected with the disease. In certain circles, premarital genetic testing is already a fact of life, i.e. in West-Africans from countries with a high occurrence of sickle-cell disease[1], and in Jewish people of Eastern-European Ashkenazi background (e.g. Tay-Sachs disease[2], see also Dor Yeshorim).

Other roles in genetic counseling

Genetic counselors provide supportive counseling to families, serve as patient advocates and refer individuals and families to community or state support services. They serve as educators and resource people for other health care professionals and for the general public. Some counselors also work in administrative capacities. Many engage in research activities related to the field of medical genetics and genetic counseling. The field of genetic counseling is rapidly expanding and many counselors are taking on "non-traditional roles" which includes working for genetic companies and laboratories.

See also


  1. Konotey-Ahulu FID. Effect of environment on sickle cell disease in West Africa: epidemiologic and clinical considerations. In: Sickle Cell Disease, Diagnosis, Management, Education and Research. Abramson H, Bertles JF, Wethers DL, eds. CV Mosby Co, St. Louis. 1973; 20; cited in D. V. Desai, Hiren Dhanani: Sickle Cell Disease: History And Origin. The Internet Journal of Hematology. 2004. Volume 1 Number 2
  2. Frisch A, Colombo R, Michaelovsky E, Karpati M, Goldman B, Peleg L. (2004). "Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis". Human Genetics. 114 (4): 366–76. PMID 14727180.

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