What is genetic counseling?
Genetic counselors provide genetic and medical information, along with support, to families affected by genetic disorders or the possibility thereof.
Their goal is to help families:
- Understand medical information and its connection to genetics.
- Understand what options are available based on the family’s current situation and possibility of future occurrences of a genetic disorder.
- Choose a course most appropriate to their beliefs, ethics and goals.
- Adjust to new knowledge and decisions.
A genetic counselor does not provide an "answer" for a family, but rather provides possible scenarios and helps a family make its own decisions.
How people are referred
Visits to genetic counselors occur for a variety of reasons, most often when a child is born with a birth defect, when a known genetic condition runs in a family or when there is a possibility of either occurring. Common scenarios in which a genetic counselor can help include:
- Someone has a relative with a genetic disorder such as Tay-Sachs disease. How likely is it for any of their children to be affected with it?
- A child is born with several minor birth defects. Is this due to a genetic condition? If so, is this child at risk for development of other medical problems or are any of their current or future siblings at risk?
- A man’s father, paternal aunt and paternal grandmother all died from colon cancer before the age of 60. Is he at a higher risk of developing colon cancer?
- A woman is 35 years of age and pregnant. How likely is it that she will have a child born with a chromosomal abnormality?
Genetic counselors often work as part of a medical team and provide information about a person’s medical condition while other professionals provide medical care.
How genetic counselors can help
Genetic counselors provide patients with the information they need to make important decisions about genetic testing and future care. Because genetic testing is a very personal decision with many far-reaching physical and emotional consequences, its impact must be carefully considered beforehand. In addition, due to the rarity of most genetic disorders, many doctors (non-geneticists) may not recognize a genetic disorder or have much in-depth information about it. Discussing a genetic condition with a geneticist or a genetic counselor is important for determining a diagnosis, even when the majority of medical care is done by other specialists.