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Are you considering genetic testing to learn more about your family’s ancestry and health? When navigating the genetic testing process, you might be wondering where to begin. You could try a direct-to-consumer testing kit, where you collect a saliva sample and mail it in. Or you might feel more comfortable talking with your doctor or another healthcare professional, especially if you have a specific concern.
There are several reasons you may want to talk to your doctor about genetic testing:
It’s best to talk with your doctor if you find yourself in any of these situations. Your primary care doctor or a specialist might identify symptoms that suggest a rare or heritable disease. They may order:
If you are having clear symptoms, you might not need genetic testing to confirm a diagnosis, but it could still be useful in order to subsequently test other family members who may not yet be showing symptoms and not have an obvious diagnosis.
If your doctor recommends additional workup, they may then refer you to a medical geneticist.
A medical geneticist may:
The medical geneticist, alongside a genetic counselor, may:
• Interpret your family history, medical history, and physical findings
• Discuss any other information that might help reach a possible diagnosis
The medical geneticist and genetic counselor may develop a differential diagnosis, or a list of possibilities that could explain your symptoms, and may recommend genetic tests that might be helpful.
If a genetic test exists that could help clarify your symptoms, they will write a prescription for that genetic test.
Genetic counselors gather family and medical history information and conduct:
Pre-test counseling, which is a discussion of your specific genetic risks and the details of any proposed testing.
They will review the likelihood that you will receive one of the following results:
POSITIVE
If a diagnosis is confirmed, the medical geneticist and genetic counselor will help formulate a follow-up medical plan.
NEGATIVE
If the test result is negative, the geneticist and genetic counselor will discuss whether the diagnosis was excluded or if you need additional monitoring or testing.
INCONCLUSIVE
In the case of an inconclusive result, it may be helpful to continue being monitored for symptoms.
After genetic testing has been completed, you will speak to the genetic counselor again, this time for post-test counseling, where the actual test results will be discussed.
Sharing your test results
It is generally recommended that you share your test results with other doctors involved in your care and with any family members who may be at risk for the same condition. However, some individuals may not feel comfortable sharing results, and some family members may not be receptive to having a discussion about risk. Genetic counselors can help individuals and families navigate these situations.
Asking about your genes
It is very important to have accurate information about your family health history. It can be a difficult subject to approach, and genetic counselors can help guide you in how to initiate that conversation.
Some key questions include:
• Does anyone in your family have a chronic illness?
• Does anyone in your family have any unexplained symptoms?
• Who in your family died at an early age?
When asking about family history of cancer, it’s important to know what type of cancer and the age of diagnosis.
How Genetic Testing Works
Dr Jennifer Ibrahim, Medical Geneticist and Head of North America (NA) Medical Affairs, Rare Disease at Sanofi Genzyme, talks about genetic testing.
Watch now
Talking About Your Genes
There may be some family members who are hesitant or not willing to share medical history. So, start by sharing what you’ve learned about your own health through the genetic testing process.
Start sharing