Getting genetic testing starts with deciding what you want to learn and choosing the right path to get there. You have two main routes: clinical testing ordered through a healthcare provider, or a direct-to-consumer kit you buy yourself. The route you choose affects the depth of results, whether insurance covers the cost, and how much support you get interpreting what the results mean.
Decide What You Want to Learn
Genetic tests aren’t one-size-fits-all. The type of test you need depends entirely on your reason for seeking one, and that reason shapes every step that follows.
Diagnostic testing identifies or rules out a specific condition when you already have symptoms. If your doctor suspects cystic fibrosis or Huntington’s disease based on your signs, this test can confirm it.
Predictive testing checks whether you carry gene variants linked to diseases you haven’t developed yet, like certain types of colorectal or breast cancer. This is common when a close relative has been diagnosed with a hereditary condition.
Carrier testing reveals whether you carry a single copy of a gene change that could cause a disorder in your child if your partner carries the same variant. Couples planning a pregnancy often pursue this, especially those with a family history of conditions like cystic fibrosis or sickle cell anemia.
Pharmacogenetic testing helps your doctor choose medications or dosages more likely to work well for your body. This is sometimes ordered before starting certain cancer treatments or psychiatric medications.
The Clinical Route: Step by Step
Most people start by talking with their primary care doctor. Describe your reason for wanting testing, whether that’s unexplained symptoms, a family history of a genetic condition, or pregnancy planning. Your doctor may order the test directly or refer you to a genetics specialist.
Before the test itself, you’ll typically meet with a genetic counselor. This professional reviews your personal and family health history, maps out your risk, and helps you decide whether testing makes sense for your situation. They also walk you through what each possible result would mean, including outcomes that might be emotionally difficult. This pre-test conversation is valuable because genetic results can be complex, and knowing what to expect reduces confusion later.
The sample collection is straightforward. Most clinical tests use a blood draw or a saliva sample. Some use a cheek swab. A few specialized situations call for other tissue types, but for the vast majority of patients, it’s a quick, painless process done at a lab or your doctor’s office. If you’ve had a blood transfusion recently, you may need to wait two to four weeks before giving a sample, since donor blood can interfere with the results. The same applies if you’ve had chemotherapy within the last 120 days.
After the lab processes your sample, results typically take a few weeks, though the timeline varies widely depending on the complexity of the test. Simple single-gene tests may come back faster, while broader panels or whole-exome sequencing can take longer. Your provider or genetic counselor will schedule a follow-up to review the findings with you.
Finding a Genetic Counselor
If your doctor doesn’t have a referral handy, two professional directories make it easy to search on your own. The National Society of Genetic Counselors (NSGC) maintains a searchable directory where you can filter by ZIP code and area of specialization, such as cancer, prenatal, or cardiovascular genetics. The American Board of Genetic Counseling (ABGC) offers a similar directory of certified counselors worldwide. Many genetic counselors now offer telehealth appointments, which can be especially helpful if you live in a rural area without a nearby genetics clinic.
Direct-to-Consumer Testing
Companies like 23andMe and AncestryDNA sell kits you can order online and complete at home with a saliva sample. These tests can screen for a limited set of health-related gene variants alongside ancestry information. They don’t require a doctor’s order, and results are delivered through an online portal, usually within a few weeks.
Consumer kits use a different technology than most clinical labs. They rely on genotyping arrays that check for specific, well-known variants rather than reading entire genes. For the variants they do test, the accuracy is high: regulatory requirements demand greater than 99% concordance with gold-standard methods across hundreds of different variants. But these kits only look at a small fraction of the variants a clinical test would examine. A consumer test reporting “no variants found” for a condition like hereditary breast cancer doesn’t mean you’re in the clear, because the kit may not test for the specific variant your family carries.
One striking finding: roughly half of women carrying a harmful BRCA1 or BRCA2 variant wouldn’t qualify for clinical testing under current medical guidelines. For people in that gap, a consumer test might be the first signal that something warrants a closer look. But any positive or concerning result from a consumer kit should be confirmed with a clinical-grade test before making medical decisions.
What Your Results Will Look Like
Clinical genetic test results generally fall into three categories. A positive result means a disease-associated variant was found. A negative result means no such variant was detected. The third category is less clear-cut: a variant of uncertain significance, or VUS. This means the lab found a genetic change, but there isn’t enough evidence yet to say whether it’s connected to a health condition. A VUS isn’t a diagnosis. It may be reclassified over time as more population data and family studies become available, so your provider may recommend periodic follow-up.
Post-test genetic counseling helps you make sense of any result. A counselor can explain treatment options if a pathogenic variant is found, connect you with support groups, and help you think through whether other family members should be tested. For carrier testing done as a couple, the counselor can walk you through reproductive options based on both partners’ results.
Cost and Insurance Coverage
Genetic testing costs range from under $100 to more than $2,000, depending on the test’s complexity. A targeted test for a single known variant in your family sits at the lower end. Broad multi-gene panels and whole-exome sequencing fall at the higher end. Costs also increase when multiple family members need to be tested to produce a meaningful result.
Insurance coverage varies. Many private insurers and Medicare cover genetic testing when it’s deemed medically necessary, meaning a doctor has documented a clinical reason for ordering it. Common qualifying factors include a strong family history of a hereditary condition, a personal diagnosis that needs confirmation, or a treatment decision that depends on genetic information. If you’re pursuing testing without a clear medical indication, you’re more likely to pay out of pocket. Before scheduling your test, call your insurance company with the specific test name and billing codes (your doctor’s office or the testing lab can provide these) to find out what your plan covers.
Newborn screening, which is done routinely in hospitals after birth, has its own cost structure. Most states charge between $30 and $150 per infant, and some states subsidize part of that fee.
Legal Protections for Your Genetic Information
The Genetic Information Nondiscrimination Act (GINA) prevents health insurers from using your genetic information to deny coverage, set premiums, or make underwriting decisions. It also bars employers with 15 or more employees from using genetic data in hiring, firing, promotions, or pay decisions. Employers cannot require or even request genetic testing as a condition of employment.
GINA’s protections cover private health insurance, Medicare, Medicaid, and Federal Employees Health Benefits. But there are notable gaps. The law does not extend to life insurance, long-term care insurance, or disability insurance. Insurers in those markets can legally ask about and use genetic test results. Some states have passed their own laws to fill these gaps, so your level of protection depends partly on where you live. The U.S. military is also exempt and can use genetic information in employment decisions, which can affect eligibility for TRICARE insurance.
If you’re considering testing and are concerned about implications for life or disability insurance, it may be worth securing those policies before undergoing genetic testing, since applications typically ask about known medical information.