Genetic Counseling

Consangunity

Another question a genetic counselor asks in taking a family history is if the couple is related to one another by blood. The practice of marrying or having children with relatives is infrequent in the United States, but is more common in some countries. When two people are related by blood, there is an increased chance for their children to be affected with conditions inherited in a recessive pattern. In recessive inheritance, each parent of a child affected with a disease carries a single gene for the disease. The child gets two copies, one from each parent, and is affected. People who have a common ancestor are more likely than unrelated people to be carriers of genes for the same recessively inherited genes. Depending on family history and ethnic background, blood tests can be offered to couples to get more information about the chance for these conditions to occur.

Exposures during pregnancy

During prenatal genetic counseling, the counselor will ask about pregnancy history. If the patient has taken a medication or has had a harmful exposure (like radiation), the genetic counselor can discuss the possibility of harmful affects. Ultrasound is often a useful tool to look for some affects of exposures.

Ethical issues in genetic counseling

Prenatal diagnosis of anomalies or chromosomal abnormalities leads to a decision about whether or not a couple wishes to continue a pregnancy. Some couples chose to continue a pregnancy. Prenatal diagnosis gives them additional time to emotionally prepare for the birth of the child and to gather resources. Others choose not to continue a pregnancy in which problems have been diagnosed. These couples have unique emotional needs. Often the child is very much a desired addition to the family and parents are devastated that the child is not healthy. Presymptomatic testing for adult onset disorders and cancer raise difficult issues regarding the need to know and the reality of dealing with abnormal results before symptoms. The National Society of Genetic Counselors has created a Code of Ethics to guide genetic counselors in caring for patients. The Code of Ethics consists of four ethical principles:

• Beneficience is the promotion of personal well being in others. The genetic counselor is an advocate for the patient.
• Nonmaleficience is the idea of doing no harm to a patient.
• Autonomy is recognizing the value of the individual, the person's abilities and their point of view. Important aspects of autonomy are truthfulness with patients, respecting confidentiality, and practicing informed consent.
• Justice is providing equal care for all, freedom of choice, and providing a high quality of care.

Perhaps the main ethical principle of genetic counseling is the attempt to provide nondirective counseling. This principle again points to a patient centered approach to care by focusing on the thoughts and feelings of the patient. Five percent of the Human Genome Project budget is designated to research involving the best way to deal with ethical issues that arise as new genetic tests become available. Genetic counselors can help patients navigate through the unfamiliar territory of genetic testing.

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Author Info: Sonja Rene Eubanks MS, CGC, Thomson Gale, Gale, Detroit, Gale Encyclopedia of Genetic Disorders Part II, 2005

This feature is for informational purposes only and should not be used to replace the care and information received from your healthcare provider. Please consult a healthcare professional with any health concerns you may have.