Getting genetic testing starts with deciding what you want to learn, because that determines which path you take. You can order a consumer test kit online and do it from your couch, or you can go through a doctor or genetic counselor for clinical-grade testing that carries real diagnostic weight. The two routes differ significantly in what they can tell you, how much guidance you get, and how the results can be used.
Consumer Kits vs. Clinical Testing
Direct-to-consumer genetic tests, like those from 23andMe or AncestryDNA, use a saliva sample you mail to a lab. They analyze a small slice of your genome using a method that checks for specific known genetic markers. These tests can estimate your ancestry, flag carrier status for certain conditions, and identify a handful of health-related gene variants. But they don’t scan comprehensively for any single condition. A consumer test that checks for three BRCA variants, for example, misses the thousands of other BRCA mutations that could raise breast cancer risk. A negative result on a consumer test cannot rule out a genetic condition.
Clinical genetic testing, ordered through a healthcare provider, uses more thorough methods: full gene sequencing, copy number analysis, or other techniques selected based on the specific condition being investigated. These labs must hold CLIA certification and typically carry additional accreditation. Results are interpreted within the context of your personal and family health history, and they can actually be used for diagnosis and treatment decisions. Some consumer labs do hold FDA approval for specific reports, but even the FDA notes those results shouldn’t be used for diagnosis or to guide treatment on their own.
How to Get Clinical Genetic Testing
The process typically follows a clear sequence. First, you talk with your primary care doctor, a medical geneticist, or a genetic counselor about why you want testing. This pre-test consultation identifies your risk factors, helps select the right test, and walks you through what the results could mean, including outcomes you might not expect. Many people don’t realize that genetic testing can reveal information about family members, uncover unexpected parentage, or identify risks you may not be able to act on.
After informed consent, a sample is collected. This is usually a blood draw, saliva sample, or cheek swab. The DNA from saliva is identical to the DNA from blood, so accuracy is the same regardless of collection method. The one practical difference: about 10% of saliva samples don’t yield enough DNA on the first try and need to be recollected, which can delay results. Blood samples rarely have this problem.
Your sample goes to a certified lab, and then you wait. Turnaround times vary widely depending on the type of analysis. Targeted tests using a technique called FISH can come back in 2 to 7 days. Standard chromosome analysis from a blood sample takes 14 to 21 days. More comprehensive tests like chromosomal microarray analysis can take 4 to 6 weeks. Your provider should give you a timeline when you submit your sample.
Once results arrive, you’ll have a post-test consultation where a provider or genetic counselor explains what the findings mean for your health and, in some cases, for your family members.
Finding a Genetic Counselor
Your primary care doctor can refer you, and that’s often the simplest starting point. If you have insurance, your insurer can also direct you to in-network genetic counselors or medical geneticists. Beyond that, the National Society of Genetic Counselors maintains a searchable online directory where you can filter by ZIP code and area of specialization. The American Board of Genetic Counseling offers a similar directory of certified counselors worldwide.
If you have an undiagnosed condition that has stumped your doctors, the Undiagnosed Diseases Network, a multicenter research program funded by the National Institutes of Health, accepts applications from patients seeking answers.
Common Reasons People Get Tested
Genetic testing isn’t one test. It’s a broad category, and the type you need depends on your situation.
- Cancer risk: Testing for inherited mutations in genes associated with breast, ovarian, colorectal, and other cancers. This is typically recommended when you have a strong family history or belong to a population with higher carrier rates.
- Carrier screening: Checks whether you carry a gene variant for a recessive condition like cystic fibrosis or sickle cell disease. Especially relevant before or during pregnancy if both partners could be carriers.
- Prenatal screening: Noninvasive prenatal testing (NIPT) can be done as early as 9 weeks of pregnancy with a simple blood draw from the mother’s arm. It analyzes fragments of placental DNA circulating in the mother’s blood to estimate the risk of chromosomal conditions like Down syndrome. NIPT is a screening tool, not a diagnosis. If it flags high risk, a diagnostic procedure like amniocentesis or chorionic villus sampling may follow. Those procedures carry a small increase in miscarriage risk, which is why NIPT is used as the first step.
- Pharmacogenomic testing: Identifies how your body processes specific medications. Certain gene variants affect how you break down antidepressants, statins, blood thinners, and other drugs. If you carry particular variants, a standard dose of a statin could cause muscle pain, or a typical antidepressant dose might not work as expected. Your doctor can order this test before prescribing certain medications, especially if you’ve had unexpected side effects in the past.
- Diagnostic testing: When a doctor suspects a genetic condition is causing symptoms, testing can confirm or rule out specific disorders.
What It Costs and What Insurance Covers
Consumer test kits typically run $100 to $300 out of pocket. Clinical genetic testing costs more, sometimes significantly more, but insurance often covers it when there’s a medical indication. A strong family history of a hereditary condition, an abnormal screening result, or a doctor’s recommendation all strengthen the case for coverage. Before you proceed with clinical testing, ask your genetic counselor or doctor’s office to verify what your plan covers. Many labs also offer financial assistance programs or payment plans for patients who are underinsured.
Legal Protections for Your Genetic Information
The Genetic Information Nondiscrimination Act (GINA), passed in 2008, makes it illegal for health insurers to use your genetic information to determine eligibility, set premiums, or make coverage decisions. Health insurers also cannot require you or your family members to undergo genetic testing. On the employment side, GINA prohibits employers from using genetic information in hiring, firing, promotions, or job assignments, and they cannot request or require genetic tests as a condition of employment.
GINA has notable gaps. It does not cover life insurance, long-term care insurance, or disability insurance. Companies in those markets can, in many states, use genetic test results when making decisions about your policy. Some states have passed their own laws to fill these gaps, but coverage varies. GINA also does not apply to employers with fewer than 15 employees, and the U.S. military is exempt from the employment protections entirely. If you’re considering genetic testing and plan to apply for life or disability insurance, it’s worth understanding your state’s specific protections before you test.
Making Sense of Consumer Test Results
If you’ve already taken a consumer test and received concerning results, the most important thing to know is that those results need confirmation through clinical testing before anyone acts on them. Consumer labs use different standards for interpreting gene variants than clinical labs do, and a variant flagged on a consumer report may not be clinically meaningful. Bring your results to a genetic counselor or your doctor, who can determine whether follow-up testing is warranted and order the appropriate clinical-grade test if so.