Genetic counseling is a process in which people seek professional help to diagnose, understand, and cope with inherited conditions. These conditions are passed from one generation to another by genes. Genes are microscopic chemical instructions inside every cell that affect how living things develop and function. The importance of genes in determining particular conditions varies. People seek genetic counseling when they know or suspect that genes play a significant role in a condition that affects them or someone in their family.
Techniques of genetic counseling.
Genetic counselors review client medical records and interview clients to construct a detailed family medical history. The counseling process may include genetic tests or other evaluations to aid in diagnosis. If a genetic condition may be present, the counselor interprets the evidence for the client and explains the nature of the condition. The explanation makes clear what is known about the condition, how it is inherited, how it is treated, and how it may affect future generations. Counselors may offer further testing or ongoing medical care, and help clients find additional resources and support.
Understanding and coping with genetic conditions involves medical, moral, and personal challenges. During counseling, clients may confront such difficult issues as understanding the mathematical likelihood that they have inherited a condition or will pass it to their offspring; considering whether they want to know if they have an inherited disorder; learning about current or future health risks and medical care involved in managing a condition; or deciding whether to continue a pregnancy when a genetic condition affects an unborn child.
Genetic counseling is nondirective—that is, a counselor does not tell a client what to think or what to do. Counselors aim to provide clients with the information and tools they need to make their own decisions. Counselors also support clients’ efforts to maintain confidence and self-worth as they cope with their situation.
Most professionals who offer genetic counseling have special training in the medical and psychological aspects of genetic conditions. Some professionals have a master’s degree in genetic counseling. Physicians with certification in a specialty called medical genetics may offer counseling. Other counselors have a doctoral degree in genetics or a related academic field. Most counselors work as members of a team that includes other health professionals.
Reasons for seeking genetic counseling.
Some common reasons for seeking counseling include obtaining advice before or during pregnancy; diagnosing a child who shows symptoms of an inherited disorder; and genetic testing of adult members of a family where a genetic condition is suspected.
Counseling during pregnancy may be offered for many reasons. For example, pregnant women over 35 years old may seek advice because the chance of certain conditions rises as the age of the mother increases.
If analysis of the family medical history or other factors suggest an increased risk of a genetic condition, parents-to-be may be offered one or more tests to help make a diagnosis. Tests commonly offered to pregnant women include: (1) tests of the mother’s blood that detect higher than normal levels of chemicals associated with certain abnormalities in the developing baby; and (2) ultrasound, which uses sound waves to create an image of the baby within the mother’s body. Additional tests may be offered to some women with an unusually high risk of having a baby with a genetic condition. Two tests that provide direct examination of the baby’s genetic material are amniocentesis and chorionic villus sampling. Because these procedures involve minor surgery, they carry a small risk to the developing baby.
Couples considering a future pregnancy may seek counseling to determine their likelihood of having a child with a genetic condition. For example, people who have already had a child with a hereditary disorder may want to know their chances of conceiving another affected child. Also, members of some ethnic groups have an increased chance of being a carrier for certain genetic conditions. A carrier is a person who is not affected by a condition, but may pass the condition on to a child if the other parent is also a carrier. One such condition is Tay-Sachs disease, which occurs chiefly in Jews of Eastern European origin. Testing for these conditions usually involves testing the parents’ blood for certain chemicals or particular genetic material.
Parents may seek a genetic evaluation to determine if a child has an inherited disorder. Common reasons for seeking an evaluation include suspected brain damage, a delay in normal growth and development, and birth defects.
Some genetic conditions do not become apparent until adulthood. Adults may seek advice when such a condition develops in one or more members of their family, and they want to know if the condition might also affect them. Examples of genetically influenced illnesses that usually appear in adulthood include certain inherited cancers and a fatal neurological disorder called Huntington’s disease.
