Genetic testing carries risks that go well beyond the physical. While a simple saliva or blood test poses almost no bodily harm, the results can create real problems with insurance coverage, family relationships, privacy, and emotional wellbeing. Some forms of prenatal genetic testing do carry a small physical risk. Understanding these risks helps you weigh whether testing is worth it for your situation and, if you go ahead, how to protect yourself.
Inaccurate Results, Especially From Consumer Tests
Not all genetic tests are equally reliable. Clinical-grade testing ordered by a doctor and performed in a certified lab is highly accurate, but direct-to-consumer tests from companies like 23andMe or AncestryDNA use a different technology that can produce alarming errors. A study published in Genetics in Medicine found that 40% of health-related variants flagged in raw data from direct-to-consumer tests were false positives. That means nearly half the time these tests said someone carried a potentially dangerous gene variant, they were wrong.
The problem gets worse when people download their raw genetic data and upload it to third-party interpretation websites. These services pull from genomic databases that may be outdated or require additional context to interpret correctly. In one documented pattern, third-party tools flagged gene variants as disease-causing when they were actually benign, particularly for BRCA variants linked to breast and ovarian cancer. The result has been a documented increase in unnecessary clinic appointments from consumers who understandably panicked over inaccurate results.
Even in clinical settings, a common outcome is the “variant of uncertain significance,” or VUS. This means the lab found a genetic change but can’t yet say whether it’s harmful or harmless. A VUS can lead to unnecessary worry if you assume the worst, false reassurance if you dismiss it, or even contraindicated medical procedures if a doctor unfamiliar with genetics misinterprets it. If you receive a VUS result, a genetic counselor can help you understand what it actually means for your health.
Insurance Discrimination Gaps
Federal law does offer some protection against genetic discrimination, but the protection has significant holes. The Genetic Information Nondiscrimination Act (GINA), signed into law in 2008, makes it illegal for health insurers to deny coverage or charge higher premiums based on your genetic information. It also prohibits employers from using genetic data in hiring, firing, or promotion decisions.
What GINA does not cover is where the real risk lies. The law offers no protection for life insurance, long-term care insurance, or disability insurance. If a genetic test reveals you carry a variant linked to Alzheimer’s disease, Huntington’s disease, or another serious condition, insurers in these categories can legally use that information against you. Some states have passed additional laws to fill these gaps, but coverage varies widely. If you’re considering genetic testing, it may be worth looking into your state’s protections and securing any relevant insurance policies before you test.
Workplace violations still happen despite GINA. In the first genetic discrimination lawsuit the EEOC ever filed, a company was found to have required a job applicant to disclose her family medical history of heart disease, cancer, diabetes, and other conditions as part of a post-offer medical exam. The company ultimately rescinded her job offer. The case settled for $50,000, but it illustrated that many employers still don’t understand what GINA prohibits, particularly that requesting family medical history counts as collecting genetic information.
Privacy and Law Enforcement Access
When you submit DNA to a consumer testing company, your genetic data doesn’t just sit in a vault. Law enforcement agencies have used consumer genetic databases to solve crimes, most famously in the Golden State Killer case. Investigators searched the platform GEDmatch, and it was actually a search of another site, MyHeritage, that identified the familial matches that broke the case. This means your DNA could help identify not just you but your relatives in a criminal investigation, even if you’ve never been suspected of anything.
Since 2018, GEDmatch has allowed users to opt out of law enforcement searches for violent crimes. But in at least one instance, investigators obtained a warrant to search the entire GEDmatch database, including users who had opted out. Larger companies like Ancestry have pushed back more aggressively. Ancestry reported receiving two criminal subpoenas in the second half of 2020, challenged both, and both were withdrawn. The Department of Justice has established a policy limiting these searches to unsolved violent crimes where traditional forensic databases have failed, but policies can change.
The core privacy risk is simple: once your genetic data exists in a database, you have limited control over how it’s used in the future. Company policies evolve, companies get acquired, and legal frameworks shift.
Psychological and Emotional Impact
Learning you carry a gene variant linked to a serious disease can be deeply unsettling, particularly for conditions with no cure or effective prevention. Receiving a positive result for a hereditary cancer syndrome or a neurodegenerative condition forces you to live with knowledge that may not be actionable for years or even decades. Some people find this empowering because it lets them plan and screen proactively. Others experience significant anxiety, depression, or a sense of helplessness.
The emotional weight is compounded when results are ambiguous. A VUS result, or a moderately elevated risk score from a consumer test, can leave you in a limbo where you know just enough to worry but not enough to act. Genetic counselors are trained to help people navigate these gray areas, which is one reason clinical testing typically includes counseling before and after results are delivered, while consumer tests generally do not.
Unexpected Discoveries About Family
Genetic testing can reveal information you didn’t go looking for. Non-paternity events (finding out the person you thought was your biological father isn’t), previously unknown siblings, and other family secrets are relatively common discoveries, especially with consumer ancestry tests. These revelations can fracture relationships and cause lasting emotional harm.
Clinical genetic testing raises a different family dilemma. If your test reveals a hereditary condition, your biological relatives may share the same risk. You might feel obligated to tell them, but the decision is complicated. Health care providers are generally bound to protect your privacy and cannot inform your family members without your permission, except in extreme circumstances. The American Society of Human Genetics permits disclosure to at-risk relatives only when the patient has refused to share the information, the harm is highly likely and serious, the relatives can be identified, and treatment or prevention is available. Courts have ruled on different sides of this issue in different states, so the legal landscape is uneven.
This creates a genuine ethical tension. Your siblings or children might benefit enormously from knowing they carry a hereditary cancer risk, for example, but sharing that information also means disclosing your own medical status and potentially revealing painful family dynamics.
Incidental Findings You Didn’t Expect
When clinical genetic testing examines large portions of your genome, particularly whole exome or whole genome sequencing, the lab may discover gene variants unrelated to the original reason for testing. The American College of Medical Genetics and Genomics maintains a list of conditions that labs are recommended to report as secondary findings. This list includes genes linked to hereditary cancers, aortic aneurysm, dangerous heart rhythm disorders, familial high cholesterol, and conditions like Von Hippel-Lindau syndrome and Wilson disease, among others.
These findings can be lifesaving if they catch something treatable early. But they can also be unwanted. You might have ordered testing to understand a neurological symptom and learn instead that you carry a variant associated with a hereditary cancer syndrome. Before undergoing broad genetic testing, you’re typically asked whether you want to receive secondary findings. It’s worth thinking carefully about your answer before the test rather than after.
Physical Risks of Prenatal Testing
Most genetic tests involve only a blood draw or saliva sample and carry no meaningful physical risk. The exception is invasive prenatal testing. Amniocentesis, which involves inserting a needle into the uterus to collect amniotic fluid, carries an overall miscarriage risk of about 0.9%. When researchers isolated the risk attributable specifically to the procedure itself (rather than background miscarriage risk), it dropped to roughly 0.3%, and some studies using tighter comparison groups put it as low as 0.12%.
Chorionic villus sampling (CVS), which collects a small tissue sample from the placenta, has a total miscarriage rate of about 1.4%, with a procedure-specific risk of approximately 0.2%. A large meta-analysis concluded that both procedures carry lower risks than the numbers traditionally quoted to patients. Non-invasive prenatal screening, which analyzes fetal DNA circulating in the mother’s blood, carries no physical risk but is a screening tool rather than a diagnostic one. Positive results from non-invasive screening still need confirmation through amniocentesis or CVS.