Genetic Counseling Health Article

Definition

Genetic counseling aims to facilitate the exchange of information regarding a person's genetic legacy. It attempts to:

• accurately diagnose a disorder
• assess the risk of recurrence in the concerned family members and their relatives
• provide alternatives for decision-making
• provide support groups that will help family members cope with the recurrence of a disorder

Purpose

Genetic counselors work with people concerned about the risk of an inherited disease. The counselor does not prevent the incidence of a disease in a family, but can help family members assess the risk for certain hereditary diseases and offer guidance. Many couples seek genetic counseling because there is a family history of known genetic disorders, infertility, miscarriage, still births, or early infant mortality. Other reasons for participating in genetic counseling may be the influences of a job or lifestyle that exposes a potential parent to health risks such as radiation, chemicals, or drugs. Any family history of mental retardation can be of concern as is a strong family history of heart disease at an early age. Recent statistics show a 3% chance of delivering a baby with birth defects. An additional 2% chance of having a baby with Down syndrome is present for women in their late thirties and older.

Precautions

Amniocentesis, one of the specific tests used to gather information for genetic counseling, is best performed between weeks 15 and 17 of a pregnancy and an additional one to four weeks may be required to culture skin cells and analyze them. Thus, these test data are not available to assist prospective parents in decision-making until the second trimester of the pregnancy. Individuals who participate in genetic counseling and associated testing also must be aware that there are no cures or treatments for some of the disorders that may be identified.

Description

With approximately 2,000 genes identified and approximately 5,000 disorders caused by genetic defects, genetic counseling is important in the medical discipline of obstetrics. Genetic counselors, educated in the medical and the psychosocial aspects of genetic diseases, convey complex information to help people make life decisions. There are limitations to the power of genetic counseling, though, since many of the diseases that have been shown to have a genetic basis currently offer no cure (for example, Down syndrome or Huntington's disease). Although a genetic counselor cannot predict the future unequivocally, he or she can discuss the occurrence of a disease in terms of probability.

A genetic counselor, with the aid of the patient or family, creates a detailed family pedigree that includes the incidence of disease in first-degree (parents, siblings, and children) and second-degree (aunts, uncles, and grandparents) relatives. Before or after this pedigree is completed, certain genetic tests are performed using DNA analysis, x ray, ultrasound, urine analysis, skin biopsy, and physical evaluation. For a pregnant woman, prenatal diagnosis can be made using amniocentesis or chorionic villus sampling.