Genetic Counseling for Diseases: What to Know


Since the initiation of the Human Genome Project in 1990, which set out to document all 20,000 human genes, the study of the influence of genetics on health and disease has exploded. The interest in genetics is understandable with more people seeking genetic counseling.

What Is Genetic Counseling?

It's a field that can uncover aspects of a person's DNA to reveal his or her background, ancestry and predisposition to certain illnesses. Awareness can give the person the option to seek early interventions or preventative treatments if needed or available.

Genetic counselors, who are health professionals trained in both genetics and counseling, conduct the tests and work with you through the results. They provide information on appropriate genetic testing and help support people with known genetic conditions. Some genetic counselors may be medical doctors, referred to as clinical geneticists, whereas others hold master's degree-level training in genetic counseling.

Benefits of Genetic Counseling

Genetic tests can identify an increased risk of a specific disease, which allows people to take early action.

For example, familial risk of breast and ovarian cancer can be determined by testing for three specific genetic mutations in the BCRA1 and BCRA2 genes. Women who carry a mutation of one of these genes are significantly more likely to develop breast cancer or ovarian cancer, according to the American Cancer Society. With genetic testing, you can understand your genetic predisposition to these types of illnesses, which can help you and your doctor determine the best course of preventative action.

Genetic testing also helps people who are starting a family. For example, if a certain genetic disease runs in a family, it can be useful for hopeful parents to determine their risk of passing the disease on to their children. Also, several chromosomal abnormalities can be detected early in pregnancy, allowing expecting parents to explore early treatment options and make informed decisions about how to proceed, as the March of Dimes explains.

The study of genetics is an incredible medical breakthrough that may eventually allow doctors to tailor treatments to an individual's genetic profile and prevent many genetic diseases.

What to Expect

If you decide to visit a genetic counselor, they will first conduct a detailed family history, looking for any illnesses that could be caused by a genetic abnormality, according to the National Society of Genetic Counselors. They may also do a clinical exam, depending on their practice and level of expertise.

Based on your family history and your reasons for testing, your counselor will recommend specific genetic tests to help you learn more about your risks. The test is usually just a simple blood draw with results normally back in a few weeks.

Once results arrive, the counselor interprets them. Some genetic tests are based on probabilities and don't provide black-and-white information, so your counselor will set up a meeting to review your results and options.

Genetic Kits and a Word of Caution

With genetic testing technology readily available, many online companies now offer kits that allow you to learn more about your heritage, risk of various diseases and even what type of wine you might prefer based on a small sample of your saliva.

Although some of this information may be fun to know, finding out about a predisposition to a specific disease could be difficult to hear from a report you receive in the mail. You may not know what to do next with this information. It's also important to keep in mind that the study of genetics is relatively new; some of these home tests may have questionable validity, and the results will need to be interpreted by a professional.

If you want to know your risk of a specific disease, it's best to work with genetic counselors, who are expertly trained. Professional testing is more accurate, and a genetic counselor has the resources to follow up on your results. Speak to your doctor, who can help determine if this type of testing is right for you and refer you to a professional genetic counselor.