Genetic counseling
From Wikipedia, the free encyclopedia
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.
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[edit] Period
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 an abnormality is noted on an ultrasound or if the woman will be over 35 at delivery), after birth (if a birth defect is seen), during childhood (i.e. if the child has developmental delay), or even adulthood (for adult onset genetic conditions such as Huntington's disease or hereditary cancer syndromes).
[edit] Risk factors
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). Premarital genetic counselling is also a legal requirement for marriage between first cousins in Maine.
[edit] Who provides it?
Prenatal genetic counseling is usually provided by genetic counselors at a high risk or specialty prenatal clinics that offer prenatal diagnosis. Pediatric and adult genetic counseling is often provided at genetic centers by a clinical geneticist. Sometimes pediatric and adult genetic counseling is done by a genetic counselor or genetic nurse. A genetic counselor is a health professional with specialized graduate degrees and experience in the areas of medical genetics and counseling. 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, providing 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 options with the family.
[edit] Supportive counseling
Genetic counselors also 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.
[edit] References
- ^ 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
- ^ 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.
