Since the beginning of time, people have recognized the concept of inheritance—that is, traits are passed down from generation to generation. In most situations, those traits are looked at with pleasure. However, when there is a genetic condition in the family that causes disease or birth defects, there is usually great concern. Genetic disorders, while individually not very common, when combined as a group, comprise a significant portion of health care concerns. There are more than 6,000 genetic disorders. About 3-4% of all newborn infants have a genetic disease or major birth defect. Approximately 1% of liveborn babies have a chromosomal abnormality such as Down’s syndrome and birth defects or genetic conditions cause more than 20% of infant deaths. About 10% of adults and 30% of children in hospitals have a problem that is genetically related. Also, many common diseases such as cancer, diabetes, and heart disease have a genetic component.
Genetic counseling is the process of providing information, education, and support to individuals and families with a medical history or increased personal risk for a genetic condition. it also includes providing information, education, and support to those at risk for having a child with a birth defect or genetic condition. Medical geneticists and genetic counselors are health professionals with specialized training and experience in human and medical genetics and counseling. They provide diagnostic information, education, and supportive counseling concerning numerous birth defects, disorders, or abnormalities.
Nondirectiveness is the generally accepted philosophy of geneticists and genetic counselors. Genetic counseling is not about reducing the incidence of a genetic disorder, rather it is about helping patients and their families make informed decisions within the context of their own values, beliefs, goals, and personal circumstances.
A genetic evaluation and counseling is appropriate for any individual or family with concerns about the diagnosis, recurrence risk, treatment, or surveillance regarding a specific condition or birth defect. Families with concerns about any of the following may find it helpful to see a genetic counselor: (a) birth defects, such as congenital heart defects, spina bifida (open spine), or cleft lip and cleft palate; (b) genetic disorders affecting children and adults such as cystic fibrosis and muscular dystrophy and chromosomal disorders such as Down’s syndrome, neurofibromatosis, and Huntington’s disease; (c) mental retardation; (d) if there is more than one birth defect in a person, whether or not there is a known cause; (e) metabolic diseases such as phenylketonuria (PKU); (f) diseases that run in families, such as cancer, kidney disease, certain heart conditions, and mental problems such as bipolar disease and schizophrenia; (g) infertility, stillbirths, multiple miscarriages, or infant deaths; (h) marriage between close blood relatives; and (i) ethnic backgrounds known to have a higher chance of specific genetic conditions, such as Tay-Sachs disease in people of Jewish descent or sicklecell anemia in African Americans.
Genetic counselors also provide information about concerns in future or current pregnancies including women who are in their mid-30s and older, prenatal tests such as maternal serum screening, amniocentesis or chorionic villus sampling (CVS), effects of infections, radiation, medications, drugs, or alcohol, and health problems such as diabetes, high blood pressure, or seizures.
At a genetic counseling session, families can expect that the genetic counselor will (a) gather information about their medical history, pregnancy history (e.g., any problems during pregnancy, drugs taken, illnesses, difficulties during delivery, and so forth), and developmental history (e.g., when a baby sits up, begins to talk and walk, how they did in school, and so forth); (b) ask the family to bring medical records, test results, or photographs to the genetics appointment; (c) ask about the family’s history and draw a family tree (the pedigree); (d) discuss a specific diagnosis (if it is known) and how the diagnosis is managed, treated, and its prognosis— for example, discussing the use of folic acid prior to pregnancy to reduce the risk of neural tube defects; (e) discuss testing for specific diagnoses such as chromosomal disorders or single gene disorders; (f) discuss carrier testing, if appropriate (for example, testing for susceptibility genes for breast and ovarian cancer or disorders such as cystic fibrosis or sickle-cell trait); (g) discuss the chances of the birth defect or genetic disorder reoccurring in other family members (recurrence risk); (h) address the family’s concerns in a supportive manner and encourage them to make decisions that reflect their own values and beliefs; and (i) make referrals to other health professionals or resources when needed.
Depending on the reasons for seeking genetic counseling, a family may only need to see the genetic counselor or genetics team once, or they may need to return for additional appointments to discuss test results or new information. In general, most genetic counseling appointments last 1-2 hours.
SEE ALSO: Alpha-fetoprotein screening, Preconception care, Pregnancy, Prenatal care, Ultrasound
- Baker, D. L., Schuette, J. L., & Uhlmann, W. R. (1998). A guide to genetic counseling. New York: John Wiley & Sons.
- National Society of Genetic Counselors. (1995). Genetic counseling: Valuable information for you and your family. Wallingford, PA: National Society of Genetic Counselors. www.nsgc.org
- Nessbausm, R. L., Mclnnes, R. R., & Willard, H. F. (2001). Thompson and Thompson: Genetics in medicine (6th ed.). Philadelphia: W.B. Saunders.