Medically reviewed by Sumiran Racherla, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor provides Genetic Testing?
A medical geneticist, a doctor trained in genetics, can guide genetic testing. A genetic counselor, a specialist who explains genetic tests, can help too. Most of the time, genetic testing is done through your health care provider. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What it is
Genetic testing is a type of medical test that looks for changes in your DNA. These changes are sometimes called variants or mutations. Often, these changes have no effect. But sometimes, even a small change in DNA can cause disease or other health conditions. Testing done through your provider is called clinical testing. It is done to find out about an inherited disorder, which is a disorder passed down through families. It also helps with decisions about your care. Direct-to-consumer testing lets you send a DNA sample and get the results.
Why a doctor might recommend it
Genetic testing may be done for many reasons. These include the following.
- Finding genetic diseases in a fetus, which is called prenatal testing.
- Screening newborn babies for certain treatable conditions.
- Finding out if you carry a gene that could be passed on to your children, called carrier testing.
- Seeing whether you are at higher risk of a specific disease, such as one that runs in your family.
How to prepare
Before you have a test, it helps to cover a few points.
- It is important to understand how the test is done. You should also know its benefits and limits, and what the results could mean for you.
- Educating you about the test and getting your permission is called informed consent.
- You can meet with a genetic counselor. They can help you understand the tests and weigh the risks and benefits.
What happens during it
Genetic tests are often done on a blood or cheek swab sample. They may also be done on samples of hair, saliva, skin, or other tissue. Amniotic fluid can be sampled too. It surrounds a fetus during pregnancy. The sample is sent to a laboratory. There, a lab technician uses one of several techniques to look for genetic changes. Newborn screening uses a small blood sample, taken by pricking the baby’s heel.
Recovery
The laboratory reports the results in writing to your doctor or genetic counselor. It can report them to you directly if you ask. For newborn screening, a parent usually receives the result only if it is positive. Some tests give results you did not expect.
Risks and side effects
The physical risks of most genetic tests are very small. This is true especially for tests that need only a blood sample or buccal smear, a method that samples cells from inside the cheek. Prenatal tests called amniocentesis and chorionic villus sampling carry a small but real risk of miscarriage. A miscarriage is losing the pregnancy. Many risks involve the emotional, social, or financial effects of the results. People may feel angry, depressed, anxious, or guilty about their results. The possibility of genetic discrimination in employment or insurance is also a concern.
Who performs it
Most of the time, genetic testing is done through your health care provider. With direct-to-consumer testing, you can get a test directly from the testing company.
Common questions
Can genetic testing tell me if I will get sick?
Not fully. A test often cannot tell if a person will show symptoms of a disorder. It often cannot tell how severe the symptoms will be or whether the disorder will get worse over time. A test may show whether you are at an increased risk of getting a specific disease.
Can I get a genetic test without a doctor?
Yes. With direct-to-consumer testing, you can send a DNA sample to a testing company and get the results. After a positive result, you are encouraged to see a genetic counselor or other health care provider.
Does health insurance pay for genetic testing?
Not always, because health insurance might only cover part of the cost of some genetic tests. Or they may not cover it at all.
How does a direct primary care or concierge doctor fit in?
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
Sources
- MedlinePlus - Genetic Testing
- MedlinePlus Genetics - How is genetic testing done?
- MedlinePlus Genetics - What are the risks and limitations of genetic testing?
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
