Findings from consumer DNA tests and raw-data tools can be wrong. In one clinical lab’s review, 40% of variants reported in consumer raw data did not confirm. The next step is a genetic counselor or clinician, who can order a retest of a fresh sample in a CLIA-certified clinical lab.
Until that result comes back, don’t change your medical care. A negative confirmation usually means the consumer call was a false positive, but it doesn’t erase risk from your family history.
Maybe it was a line in a consumer health report. Maybe a third-party tool flagged something in your raw data file. Either way, you are now looking at a gene name you had to search, and your stomach has dropped a little. Take a breath. A finding from a consumer test or a raw-data upload is a lead worth following up, not a verdict. The follow-up has a name, confirmatory clinical testing, and it is a fairly routine process once you know the steps.
Why a consumer finding needs a second look
Most consumer DNA tests use genotyping arrays, which check a preset list of positions rather than reading your whole genome (our how DNA testing works page explains the difference). Arrays are very good at common variants. They are much less reliable for the rare variants that tend to matter most in hereditary disease, and that gap shows up in the research.
- Clinical lab data. In a 2018 study in Genetics in Medicine, Tandy-Connor and colleagues at Ambry Genetics reviewed 49 patient samples sent to their clinical lab to confirm variants first reported in consumer raw data. 40% of the variants were false positives: the clinical test did not find them. Some variants that a consumer report or third-party service labeled "increased risk" were classified as benign by Ambry and several other clinical labs.
- Population data. A 2021 BMJ study by Weedon and colleagues compared array results with sequencing data for 49,908 UK Biobank participants. For common variants, the arrays performed extremely well. For very rare variants (frequency below 0.001%), only 16% of the arrays’ heterozygous calls were confirmed by sequencing. The authors concluded that arrays should not guide health decisions without validation.
Some reports also include variants that were never measured at all but estimated statistically. Our explainer on genotype imputation covers why those calls deserve even more caution.
Unconfirmed is not the same as wrong. Plenty of consumer findings do confirm. The point of retesting is to find out which kind you have before anyone makes a medical decision based on it.
What a CLIA-certified lab is
In the United States, the Clinical Laboratory Improvement Amendments of 1988 (CLIA) set federal quality standards for laboratories that test human specimens to assess health or to diagnose, prevent or treat disease. CMS administers the program, with the FDA and CDC in supporting roles. Research testing that does not report patient-specific results is exempt.
Confirmation means retesting the variant in a CLIA-certified lab using a clinically validated method. A consumer company’s own lab may also be CLIA-certified, but that does not turn every line of a downloadable raw file into a clinical result. The Jackson Laboratory’s clinician guidance specifically says variants surfaced by third-party interpretation of raw data need clinical confirmation before any medical decision.
How to get a confirmatory test
You generally cannot order a clinical confirmation for yourself. A clinician or genetic counselor orders it, which is a good thing, because they also help decide what to test and what the answer means.
- Start with your doctor or a genetic counselor. The National Society of Genetic Counselors runs a free Find a Genetic Counselor directory. You can search by specialty, by location, or for counselors who work by telehealth. NSGC notes that many genetic counselors can see patients by telehealth.
- Review your history. Expect questions about your own health and your family’s. That context shapes whether the finding matters and what to test.
- Choose the scope. The clinician may confirm only the specific variant or order broader testing, such as a gene panel for the condition in question. A broader test can catch variants the consumer test was never designed to see.
- Provide a fresh sample. The clinical lab tests a new sample collected for that order, often blood or saliva, depending on the lab. It does not reuse your consumer data.
What the lab and your clinician will need
Gather this before the appointment. It saves time and helps make sure the right position gets tested.
- A copy or screenshot of the report, including the company or tool name and the date
- The gene name, the variant as written (an rsID such as
rsfollowed by digits, or a gene-plus-change notation), and your reported genotype - Whether the finding came from the company’s own report or from a third-party tool reading your raw file
- The raw file itself, kept safe in case the counselor wants to check it. Not sure what kind of file you have? The file inspector identifies it locally in your browser without uploading it.
- A family health history covering parents, siblings, children, aunts, uncles and grandparents where you know it
- Your insurance details and the name of the clinician who will order the test
Insurance and cost questions
Coverage for confirmatory testing varies by insurer, plan and situation, and your personal and family history can affect whether a plan considers the test medically necessary. Before your sample is sent, ask the ordering office or the lab whether they can check your benefits, and request an estimate of what you would owe. If the answer is unclear, a genetic counselor can often help you navigate it.
What to do while you wait
- Do not change your medical care based on the consumer result alone. The FDA says consumer genetic results should not be the sole basis for medical decisions. That includes medications, screening schedules, surgery and pregnancy planning, unless your clinician advises otherwise.
- Keep up routine care. Scheduled screenings and checkups still matter whatever the result turns out to be.
- Pause before uploading to more services. Running the same file through more interpreters rarely settles the question, and every upload is a privacy decision. Our genetic privacy checklist walks through what to check.
- Think before telling relatives. A confirmed result can matter to blood relatives. An unconfirmed one can cause needless alarm. Your counselor can help you plan that conversation once you have an answer.
What a negative confirmation means
If the clinical lab does not find the variant, the consumer call was most likely a false positive. Ask your counselor to confirm that the clinical test covered the exact position in question.
A negative result does not mean you carry no risk. If the clinician confirmed only one variant, the test looked at one spot. The FDA notes that a negative consumer result does not rule out risk either, because tests may not cover every known variant. A strong family history can still justify a fuller evaluation.
If the variant is confirmed, you are no longer guessing. Your counselor will explain what it means for you, what management options exist, and whether relatives should consider testing. For other kinds of findings, our I have results page helps you sort out what you are looking at.
Common questions
Can I order a confirmatory genetic test myself?
Usually not. A clinician or genetic counselor orders it, and they also help choose between confirming one variant and broader testing.
Will the lab just re-read my consumer DNA file?
No. Clinical confirmation tests a new sample in a CLIA-certified lab with a clinically validated method. The sample is often blood or saliva, depending on the lab.
How common are false positives in consumer raw data?
It depends on the variant. In one clinical lab’s 2018 review of 49 referred samples, 40% of variants reported in consumer raw data did not confirm. Arrays are especially unreliable for very rare variants.
Does a negative confirmation mean I have no genetic risk?
No. It means that variant was not found. If only one position was tested, other variants were not checked, and family history can still call for further evaluation.
Should I tell my relatives before the result is confirmed?
It is usually better to wait for confirmation and talk it through with a genetic counselor, who can help you decide who needs to know and how to tell them.
Keep going
Sources
Checked October 2026: the Tandy-Connor et al. 2018 abstract (49 samples, 40% false positives), the Weedon et al. 2021 BMJ abstract (49,908 participants; 16% confirmation for very rare variants), CDC’s CLIA overview, FDA’s direct-to-consumer test guidance, The Jackson Laboratory’s clinical-confirmation guidance, and NSGC’s description of its Find a Genetic Counselor directory (search filters confirmed through FORCE’s description, since the directory blocks automated reading). We did not include turnaround times, specific lab names or insurer policies, which vary and could not be verified generally.
- Tandy-Connor et al., Genetics in Medicine (2018): false positives in DTC raw data
- Weedon et al., BMJ (2021): SNP chips and rare pathogenic variants
- CDC: Clinical Laboratory Improvement Amendments (CLIA)
- FDA: Direct-to-consumer tests
- The Jackson Laboratory: Clinical confirmation of consumer genomic testing
- NSGC: About genetic counselors
Educational content, not medical advice. A genetic result is information, not a diagnosis; for anything medically important, talk to a qualified clinician or genetic counselor. Some outbound links are affiliate links; see the disclosure.