Genetic Counseling

Genetic counseling is when patients who are prospective parents seek advice regarding genetic disorders that may be prevalent in their gene pool. Genetic counselors provide information and counseling regarding the probability of the fetus inheriting a genetic disorder, the nature of the disorder and the possible difficulties that may arise if the child is born with the disorder. A genetic counselor must have a master of science degree and will usually have studied genetics, nursing, psychology, biology, social work and public health.

A genetic counselor is simultaneously a scientist and counselor. The job involves explaining hard facts and statistics to prospective parents, a role that requires sensitivity and caution. Counselors analyze the genetic history of the patients, predict the probability of the fetus inheriting any disorders and advise the patients regarding the risks and consequences of the specific disorder. Patients tend to seek out genetic counselors when they plan to conceive or are already aware of genetic disorders in the family. A woman already pregnant will often go through prenatal testing in order to learn whether or not the fetus is at risk. If she discovers there is a possibility for genetic disorder or the fetus shows signs of one, she may seek out a genetic counselor for further information and advice. The parents may decide to continue with the pregnancy or terminate it. Some prospective parents prefer not to be tested at all so as not to be forced to make a difficult choice. In the event of the onset of a disease later on in life, patients may refer to a genetic counselor for information and advice.

At times, testing can reveal conditions that are easily treatable and preventable. There are two types of tests: diagnostic tests and screening procedures. Diagnostic testing involves invasive procedures such as chorionic villus sampling (CVS) and amniocentesis. Both are extremely effective in detecting chromosomal disorders, but CVS does not detect neural tube defects. These tests may increase the chance of a miscarriage, so they must be performed by an experienced doctor. Screening procedures are routine procedures every pregnant woman receives, such blood testing and ultrasound scans. Genetic disorders that can be detected during pregnancy include: Down syndrome, Tay-Sachs disease, spina bifida, some types of mental retardation, muscular dystrophy and sickle cell anemia. Some diseases are only passed on if both parents carry the gene, such as cystic fibrosis. Others, like Huntington's disease, pass down through only one parent. If any of these disorders is detected early on in the pregnancy, the parents have the option of referring to a genetic counselor.

Not only does a genetic counselor provide objective information, but may also inform the parent as to what services are available for a child with disabilities, the potential growth and development of the disabled child and possible employment opportunities and general quality of life. Abortion in the case of findings of disease is often considered a medical necessity. The rate of pregnancy termination depends on the type of disability detected. Roberts, Stough and Parrish, in their article "The Role of Genetic Counseling in the Elective Termination of Pregnancies Involving Fetuses with Disabilities," quote various surveys and their findings regarding abortion: "Glover and Glover (1996) concluded that more than 88% of women who have a confirmed prenatal diagnosis that they are carrying a fetus with Down syndrome choose to abort the pregnancy ... Bull's (1999) study found that 50.4% of all pregnancies with fetal diagnoses of congenital heart disease were electively terminated. Brock (1996) found through screening 25,000 couples for cystic fibrosis that in the eight cases where fetuses were found to have cystic fibrosis, all eight pregnancies were terminated." These findings highlight how important it is for genetic counseling to provide accurate and adequate information regarding the nature of any potential disorder.

A patient with a family history of genetic disorders, such as Huntington's disease, may confer with a genetic counselor as to whether or not it is preferable to be tested at all. The decision to take the test is a difficult one, as it determines the possible inevitability of severe life changes later on. Due to the cognitive and emotional strain, any patient who does agree to be tested is required to participate in counseling sessions. Some patients prefer being informed by genetic counselors over remaining ignorant. Others appreciate having some control in the decision-making process. Some avoid genetic testing for moral or religious reasons.

Genetic Counseling: Selected full-text books and articles

The New Genetics and the Public's Health By Alan Petersen; Robin Bunton Routledge, 2002
Librarian's tip: Chap. 5 "Facilitating Autonomy: The Discourse of Genetic Counselling"
Choosing Children: Genes, Disability, and Design By Jonathan Glover Oxford University Press, 2006
The Worth of Women's Work: A Qualitative Synthesis By Anne Statham; Eleanor M. Miller; Hans 0. Mauksch State University of New York Press, 1988
Librarian's tip: Chap. 9 "Women Talking to Women: Abortion Counselors and Genetic Counselors"
Genetic Counseling: Implications for Community Counselors By Bodenhorn, Nancy; Lawson, Gerard Journal of Counseling and Development : JCD, Vol. 81, No. 4, Fall 2003
Peer-reviewed publications on Questia are publications containing articles which were subject to evaluation for accuracy and substance by professional peers of the article's author(s).
Genetic Knowledge: Human Values and Responsibility By Jacquelyn Ann K. Kegley ICUS, 1998
Librarian's tip: "Genetic Screening, Sickle Cell Anemia, and the African and African-American Perspectives: The Ethics of Screening and Counseling" begins on p. 183 and "Legal Implications of Genetic Screening and Counseling" begins on p. 231
Genetic Counselling for Psychiatric Disorders: A Case Study By Ionescu, Andrada; Moldovan, Ramona Cognitie, Creier, Comportament, Vol. 19, No. 2, June 2015
Peer-reviewed publications on Questia are publications containing articles which were subject to evaluation for accuracy and substance by professional peers of the article's author(s).
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