Genetic counselors come into our lives at some of our most important and vulnerable moments: during pregnancy, when we want to know more about the health of our developing babies; when we've been diagnosed with cancer or another serious illness; when we have concerns about how our children are learning and growing.
These medical professionals are experts in interpreting what role our DNA plays in health, and it's an area of healthcare that's rapidly expanding. New applications for genetic tests are being researched and discovered, and more and more testing panels are becoming available to help unravel the causes of disease and determine the best treatments. In this age of precision medicine, genetic counselors are becoming an increasingly common and important part of a healthcare team.
Daria Ma is a cardiac genetic counselor at the Cedars-SinaiHeart Institute. She's provided some insight on what these professionals do and how they can help us manage and improve health.
What is a genetic counselor and what can they do for you?
Daria: A genetic counselor is a medical professional with advanced training in medical genetics, inherited diseases, and helping patients interpret their test results and develop a plan of action based on them. We know what testing panels are available for different diseases and conditions, and we can make recommendations on what tests might be helpful for an individual based on their health and their family histories.
More areas where we can help:
Determining health risks based on family history
Genetic risk for cancer or other specific diseases
Determining if genetic testing would be beneficial for you
We're also there to help explain the results of genetic tests, which can be quite complex. The tests don't always come back with simple yes or no answers. And in instances when a test reveals a serious risk or identifies an illness, we're there to help deal with the feelings that arise and to provide options.
When do people usually see a genetic counselor?
Daria: Some of the most common reasons people seek genetic counseling:
When they're having a baby, or they want to have a baby. Many women have genetic tests done on their babies midpregnancy to make sure the baby is developing properly and doesn't have any serious genetic problems. Preconception screening provides a way for potential parents to get a look at their own genetic makeup and determine if they have a risk of passing any genetic disorder on to their children.
Families may consult a genetic counselor if they have a child who has a learning or developmental disability to determine if there is an underlying genetic cause.
People with a strong family history of cancer may seek genetic counseling to determine if their own risk is high, so they can manage that risk. They might also seek counseling if a family member has cancer that has been determined to be inherited and they want to assess their own risk.
Many types of heart diseases are inherited, and we have genetic tests that can help determine if someone has a higher risk of developing heart disease.
People who have strong family histories of brain and nervous system disorders also may seek out the help of a genetic counselor.
What happens in a genetic counseling session?
Daria: We usually meet with patients for 30 minutes to an hour or more. We start with a family health history to thoroughly document a person's medical history for risk assessment. Based on that, we'll know if someone would benefit from more in-depth blood or saliva tests to look at their genes. We'll also provide candid information on what tests are available and what limitations those tests might have.
Once we have test results, we will provide information on what steps to take next. In some cases, that might be treatment if we've identified a specific disease. Or, if what we've determined is that someone is at high risk for a disease, we'll help them develop a plan to protect their health and reduce their risk. Sometimes, the results of these tests can bring news that is upsetting or even frightening to people. In those cases, we provide emotional support and referrals to help them manage their situation.
Does health insurance cover genetic counseling and testing?
Daria: Every insurance plan is different. However, these services are often covered if you've been referred by your doctor. Check with your insurance company to verify your individual coverage.
How can I find a genetic counselor?
Daria: To contact a genetic counselor in your local area, ask your physician. Or you can use the Find a Genetic Counselor tool from the National Society of Genetic Counselors.
The Medical Genetics Program at Cedars-Sinai hosts the West Coast's most comprehensive genetics program in the diagnosis, prevention and management of all forms of hereditary disorders and birth defects affecting fetuses, newborns, children, adolescents and adults.
To contact a genetic counselor at Cedars-Sinai who specializes in the area of your interest, please call 1-800-CEDARS-1.