Getting genetic testing starts with either talking to your doctor or ordering a direct-to-consumer kit, depending on what you want to learn. The clinical route, which goes through a healthcare provider, gives you medically actionable results and professional guidance. The at-home route is simpler to access but more limited in what it can tell you. Here’s how both paths work and what to expect along the way.
Clinical Testing vs. At-Home Kits
There are two main ways to get your DNA analyzed, and they serve different purposes. Clinical genetic testing is ordered by a healthcare provider, processed in a certified lab, and designed to diagnose conditions, assess disease risk, or guide treatment decisions. Direct-to-consumer (DTC) tests are kits you buy online or in a store, collect a sample at home, and mail back for analysis.
The FDA notes that direct-to-consumer tests have varying levels of scientific evidence behind their claims. Some are well-supported, while others are not. Importantly, these tests are not a substitute for a clinical evaluation. They may screen for a limited number of genetic variants, but not all variants that contribute to disease risk are known. A negative result on a DTC test does not mean you’re in the clear for a particular condition. If you’re looking for information to guide medical decisions, such as cancer risk, carrier status for a condition you could pass to your children, or a diagnosis for symptoms you’re experiencing, clinical testing is the more reliable path.
How to Start the Clinical Process
The most common first step is bringing up genetic testing with your primary care doctor. They may order the test themselves or refer you to a genetics specialist or genetic counselor. You can also find a genetic counselor directly using the National Society of Genetic Counselors directory, or locate a genetics clinic through the American College of Medical Genetics and Genomics directory. These services are available in person, by phone, or by video conference.
During a genetic counseling session, the counselor collects your personal and family health history, then uses that information to determine how likely it is that you or a family member has a genetic condition. Based on that assessment, they help you decide whether testing makes sense and, if so, which specific test to pursue. This step matters because there are many different genetic tests, and choosing the right one affects both cost and the usefulness of your results.
What Happens During the Test
The sample collection itself is straightforward. Genetic tests are performed on a sample of blood, hair, skin, or other tissue. For prenatal testing, amniotic fluid may be used. Blood draws are the most common method in clinical settings. Some tests use a simple cheek swab or saliva sample. There’s generally no special preparation like fasting required.
Your sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on what condition is being investigated. The lab then reports results in writing to your doctor, genetic counselor, or directly to you if requested.
How Long Results Take
Turnaround time depends on the complexity of the test. Small single-gene or panel tests typically come back in two to six weeks. Larger tests that analyze your entire set of protein-coding genes (called exome sequencing) or your full genome can take several months. Your provider should give you a specific estimate when the test is ordered.
Understanding Your Results
Genetic test results generally fall into three categories. A positive result means the lab found a change in a gene, chromosome, or protein that’s relevant to the condition being tested. Depending on the purpose of the test, this could confirm a diagnosis, identify you as a carrier of a genetic variant, flag an increased risk of developing a disease like cancer, or indicate that further testing is needed.
A negative result means no known harmful change was found. This can indicate you’re not affected by a particular disorder, you’re not a carrier, or you don’t have an increased genetic risk for a specific disease. But “negative” doesn’t always mean “zero risk,” especially for complex conditions influenced by many genes and environmental factors.
There’s also a third possibility: a variant of uncertain significance (VUS). This means the lab found a DNA change, but scientists don’t yet know whether it causes disease or is simply a harmless natural variation. A VUS result can feel frustrating, but it’s relatively common, and your provider may recommend monitoring or retesting in the future as scientific understanding improves.
Post-test genetic counseling helps you interpret what your results actually mean for your health and your family. Counselors can walk you through treatment options if relevant, connect you with specialists, and refer you to support groups.
Cost and Insurance Coverage
Genetic testing can range from under $100 to more than $2,000, depending on the complexity of the test. Simple single-gene tests fall on the lower end, while broad sequencing panels cost more. The price also increases if multiple family members need to be tested to get a meaningful result, which is sometimes necessary for carrier or inheritance testing.
Many health insurance plans cover genetic testing when a provider determines it’s medically necessary. This typically means you have symptoms, a strong family history, or another clinical reason that justifies the test. If you’re considering testing, ask your insurance company about coverage before proceeding. Some genetic testing companies also offer financial assistance programs or payment plans. For newborn screening, which is routine in every state, costs range from $30 to $150 per infant, with some states covering part or all of the fee.
Legal Protections for Your Genetic Information
A common concern is whether genetic test results could be used against you. The Genetic Information Nondiscrimination Act (GINA), passed in 2008, provides two core protections. First, health insurers cannot use your genetic information to determine eligibility, set premiums, or make coverage decisions. This applies to private insurers, Medicare, Medicaid, and federal employee plans. Second, employers cannot use genetic information in hiring, firing, or other employment decisions, and they cannot request or require genetic testing.
GINA’s protections have a notable gap, though. The law does not cover long-term care insurance, life insurance, or disability insurance. Some states have their own laws that fill in these gaps, but coverage varies. If you’re concerned about a specific type of insurance, it’s worth checking your state’s protections before testing. For members of the U.S. military, GINA’s employment protections do not apply, and the military is permitted to use genetic and medical information in employment decisions.
Choosing the Right Path for You
If you have a family history of a genetic condition, are planning a pregnancy, or have been recommended for testing by a doctor, the clinical route with a genetic counselor gives you the most complete and medically useful information. If you’re primarily curious about ancestry or general wellness traits and understand the limitations, a direct-to-consumer test can be a reasonable starting point. Just know that any concerning findings from a DTC test should be confirmed through clinical testing before you make any health decisions based on them.