What is Genetic Counseling?

DEFINITION: Genetic counselors are trained professionals who work as a part of a health care team. They provide genetic and medical information, along with support, to families affected by genetic disorders or the possibility of one.

Their goal to 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;
    • and provide support to help families 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 their own decisions.

HOW PEOPLE ARE REFERRED:
Visits to genetic counselors occur for a variety of reasons, mainly falling into three main categories. People see genetic counselors 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. Visits to genetic counselors cover a wide range of circumstances and examples include:

  • Someone has a relative with a genetic disorder such as Tay-Sachs. 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 years. 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?

 

These and other questions are commonly referred to genetic counselors. Genetic counselors often work as a part of a medical team and provide information about a person’s medical condition while other professionals provide medical care.

HOW CAN GENETIC COUNSELORS HELP: A genetic counselor’s role is unique because the counselor does not provide medical care. Instead, genetic counselors, working with a team of medical professionals, help by providing patients 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, and a genetic counselor can help with this. Also, 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. For this reason, discussing a genetic condition with a geneticist or a genetic counselor is very important, even when the majority of medical care is done by other specialists.