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Genetic Counseling

Genetic counseling is the process in which a specially trained professional communicates with a person, couple, or family about the occurrence, or chance of occurrence, of a birth defect or genetic condition. Genetic counselors, who have training in both human genetics and counseling, may have an M.D., Ph.D., R.N., or M.S. degree. While many genetic counselors work in university medical centers, others work with private hospitals, state or federal health departments, diagnostic laboratories, or in private practice.

Many individuals, in a variety of situations, may benefit from genetic counseling. Examples of common circumstances in which genetic counseling might be sought are as follows:

  1. A forty-five-year-old pregnant woman and her partner are concerned because her obstetrician has informed them that their pregnancy is at increased risk for Down syndrome and other chromosomal abnormalities because of her age.
  2. A twenty-three-year-old woman has just given birth to a baby with a birth defect called spina bifida, which can cause some paralysis in the lower limbs and may affect bowel and bladder control. She is concerned about a possible genetic contribution to this condition.
  3. A couple in their late twenties is concerned about their two-year-old son's behavior. He is hyperactive and has not yet begun to talk. Their pediatrician recommends a special blood test for the child, which reveals that he has a genetic condition called fragile X syndrome.
  4. A couple in their forties has just learned that the husband's mother has been diagnosed with Huntington's disease, a late-onset, degenerative disorder that is hereditary. They are confused about what this means for the mother, for them, and for their three children.
  5. Sarah and her boyfriend are moving closer to marriage. She is reluctant to be married until she can discover whether the muscular dystrophy that affected her brother and her uncle may be passed along to her own children.

These scenarios illustrate a few of the situations in which people pursue genetic counseling. Although the specific information discussed in each session varies, the genetic counseling process has some common characteristics. A family history is usually taken, and a "family tree" is drawn. Medical information, such as the precise diagnosis, prognosis, and management of the condition, is reviewed in nonmedical, easily understood terms. The way in which heredity contributes to the condition is also discussed. Specialized tests, and their risks and benefits, are described. This is the science-oriented aspect of the practice of genetic counseling.

Just as important to the process are the active listening and counseling skills practiced by the genetic counselor. He or she pays careful attention to words and gestures and notices the way clients interact. The genetic counselor attempts to create an environment in which people feel entirely comfortable expressing the variety of feelings related to having a birth defect or genetic condition, either in themselves or in a family member. These emotions include, among others, anger, sadness, fear, shame, and guilt. By facilitating this type of communication, the genetic counselor assists the clients in adjusting to the condition.

The cornerstone of the practice of genetic counseling is that it is nondirective. The autonomy of the client, and the right of the individual to make decisions based on his or her own values and beliefs, is paramount. Therefore, a genetic counselor must be willing to work with the client to find the path that seems best from the client's point of view.

The demand for genetic counseling has grown as knowledge about the human genome has increased. For a growing number of conditions, a person's DNA can be examined to determine whether a malfunctioning gene is present. DNA testing might reveal that someone who is now A doctor discusses a couple's genetic information with them during a genetic counseling session. For clients, the chance to openly express feelings related to genetic condition is just as important as the scientific aspects of the process. PHOTO RESEARCHERS, INC. perfectly healthy will later become affected by a genetic condition, such as Huntington's disease (see example 4), or it might be determined that a healthy woman carries a gene that may cause a genetic disease in her children (such as in example 5).

DNA technology holds remarkable power. Prior to its development, those with a family history of a genetic condition made major life decisions, such as whether to have a child, based on a statistical analysis of the chance that the condition would be passed along. Now, for many conditions, an at-risk person can be tested and can know for sure whether he or she has the gene. Prenatal diagnosis, through methods such as chorionic villus sampling and amniocentesis, allows DNA to be obtained from the fetus to determine whether a pregnancy is affected with a genetic disease. Individuals who learn that they may pass along a genetic condition might choose to avoid this risk by conceiving using artificial insemination or in vitro fertilization with a donor egg. They may, on the other hand, choose to adopt a child. Those who decide to have their own biological children can now do so with a better understanding of their risks and can have the opportunity to prepare for the birth of a child with an inherited condition or a birth defect.

This technology, while increasing the amount of information and the number of options an individual has, can lead to other dilemmas. An issue fraught with ethical, moral, and religious overtones is the question of aborting a pregnancy affected with a genetic condition or birth defect. In this situation and many others, genetic counselors provide information and support for the individuals to make their own decisions concerning these difficult issues.

Although the day researchers can determine the entire genetic code for any person remains in the future, the field of genetics is providing an ever-increasing number of people with a higher level of understanding and a greater array of choices. It is the role of genetic counseling to assist people as they grapple with these increasingly complex situations.


Applebaum, E. G., and Firestein, S. K. (1983). A Genetic Counseling Casebook. New York: Free Press.

Baker, D. L.; Schette, J. L.; and Uhlmann, W. R. (1998). A Guide to Genetic Counselling. New York: Wiley-Liss.

Ferrell, J. (1992). "Genetic Counseling." Vogue, February, pp. 150–153.

Harper, P. S., and Clarke, A. (1997). Genetics, Society, and Clinical Practice. Oxford: BIOS Scientific; Herndon: Distributors, USA and Canada, BIOS Scientific.

Kelly, P. T. (1977). Dealing with Dilemma: A Manual for Genetic Counselors. New York: Springer-Verlag.

Kessler, S., ed. (1979). Genetic Counseling: Psychological Dimensions. New York: Academic Press.

Otten, A. L. (1989). "Parental Agony: How Counselors Guide Couples When Science Spots Genetic Risks." The Wall Street Journal, March 8, pp. A1, A8.

Shiloh, S. (1996). "Genetic Counselling: A Developing Area of Interest for Psychologists." Professional Psychology: Research and Practice 27:475–486.


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