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Genetic counseling or counselling (UK English) 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.[1]

Contents

Genetic counselors

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 [1]. Most enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public health and social work. Genetic counselors are 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 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.

Genetic counselors are present at high risk or specialty prenatal clinics that offer prenatal diagnosis, pediatric care centers, and adult genetic centers. Genetic counseling can occur before conception (i.e. when one or two of the parents are carriers of a certain trait) through to adulthood (for adult onset genetic conditions such as Huntington's disease or hereditary cancer syndromes).

Patients

Any person may seek out genetic counseling for a condition they may have inherited from their biological parents.

A woman 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. If a prenatal screening 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 explain the condition itself.

Genetic counselors as support

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.

Amniocentesis

Amniocentesis, first performed in 1967, is a procedure which is performed by obstetricians to help identify chromosomal and genetic abnormalities which may be present in fetuses. The scientific basis of amniocentesis is straightforward. The fetus is surrounded by amniotic fluid within the amniotic sac inside the mother's uterus. Floating in the amniotic fluid are cells that have washed off the baby's skin, intestines and urinary tract. Each of these cells contains a complete set of fetal chromosomes. In order to collect these cells for amniocentesis, a long, thin needle is placed through the mother's abdomen and a tablespoon or two of amniotic fluid is removed. The fetal cells are removed from the fluid and cultured in the laboratory. Cells are treated with a chemical which halts the cell division process, followed by treatment with a hypotonic solution which causes cells to swell. The swollen cells are then broken open, often by being dropped in a drop of liquid onto a glass slide. Microscopic analysis of the slide will show the chromosomes which have been released from the cells. The chromosomes can then be counted and analyzed to give a genetic "snapshot" of the developing fetus.

See also

References

  1. ^ "Definitions of Genetic Testing". Definitions of Genetic Testing (Jorge Sequeiros and Bárbara Guimarães). EuroGentest Network of Excellence Project. 2008-09-11. http://www.eurogentest.org/patient/public_health/info/public/unit3/DefinitionsGeneticTesting-3rdDraf18Jan07.xhtml. Retrieved 2008-08-10. 

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