What You Can and Cannot Conclude
GenomeInsight is a powerful educational tool — but it's not a medical diagnosis. Here's what our results mean and what they don't.
⚠️ GenomeInsight is not a medical device or diagnostic test.
Results are educational and informational only. Do not start, stop, or change any medication or treatment based solely on these results. Always consult a qualified healthcare provider.
✅ What Our Results Can Tell You
Your genotype at specific positions
We accurately report what alleles you carry at each analyzed SNP. If your raw data says you're AG at rs1801133, that's what you have.
Published research associations
We report what peer-reviewed studies have found about specific genetic variants — for example, that the APOE ε4 allele is associated with increased Alzheimer's risk in large population studies.
Metabolizer phenotype predictions
For pharmacogenomics, we predict your likely metabolizer status (poor, intermediate, normal, rapid) based on well-characterized star alleles. These predictions align with CPIC guidelines.
Carrier status for recessive conditions
We can identify if you carry one copy of a pathogenic variant for conditions like cystic fibrosis or sickle cell disease.
Starting points for conversations with your doctor
Our reports can help you ask informed questions. 'I carry CYP2C19 *2/*2 — should we consider alternatives to clopidogrel?' is a valuable conversation starter.
❌ What Our Results Cannot Tell You
Whether you will develop a disease
Genetic risk is not destiny. A higher genetic risk for type 2 diabetes does not mean you will get diabetes. Environment, lifestyle, diet, and other factors play enormous roles.
A clinical diagnosis
Only a healthcare provider can diagnose medical conditions. Having a BRCA1 variant in consumer-grade data does not confirm cancer risk — clinical-grade testing with genetic counseling is required.
Complete pharmacogenomic guidance
While we report metabolizer phenotypes, actual drug dosing depends on many factors: kidney function, other medications, body weight, age, and clinical context. A pharmacist or physician must interpret these results in your full medical context.
Rare or structural variants
Consumer DNA chips test specific positions (SNPs), not your full genome. Rare mutations, insertions, deletions, and structural variants may be missed entirely.
Definitive ancestry
Ancestry estimates are statistical approximations based on reference populations. They can shift as reference panels are updated and should not be treated as definitive ethnic or racial identity.
Common Misunderstandings
❌ Misunderstanding: “I have the APOE ε4 variant, so I'll get Alzheimer's.”
✅ Reality: The APOE ε4 allele increases statistical risk but is neither necessary nor sufficient for Alzheimer's. Many ε4 carriers never develop the disease, and many Alzheimer's patients don't carry ε4.
❌ Misunderstanding: “GenomeInsight says I'm a poor metabolizer for codeine, so I should stop taking it.”
✅ Reality: This is a conversation to have with your doctor or pharmacist. They can evaluate your full medication list, clinical history, and determine the best course of action. Do not change medications without professional guidance.
❌ Misunderstanding: “My BRCA1 result shows 'normal,' so I'm safe from breast cancer.”
✅ Reality: Consumer DNA tests check only a handful of BRCA positions. Thousands of pathogenic BRCA variants exist that aren't on consumer chips. A normal consumer result does not replace clinical BRCA testing if you have family history.
❌ Misunderstanding: “My ancestry says 40% Italian, so that's exactly what I am.”
✅ Reality: Ancestry percentages are estimates that depend on reference populations. Different algorithms and reference panels can produce different numbers. These are approximations, not identity declarations.
❌ Misunderstanding: “I have a 'high risk' variant, so I need to panic.”
✅ Reality: Most 'high risk' variants increase relative risk modestly (e.g., 1.3x to 2x). If the baseline risk is 5%, a 2x increase means 10% — still a 90% chance you won't develop the condition. Context matters enormously.
When to Consult a Healthcare Provider
- →You find a variant associated with a serious condition (BRCA, APOE ε4/ε4, LRRK2, etc.) — get clinical-grade confirmatory testing
- →Your pharmacogenomics results suggest you may be a poor or ultra-rapid metabolizer for a medication you currently take
- →You're a carrier for a recessive condition and are planning to have children — consider genetic counseling
- →You experience anxiety about results — a genetic counselor can provide proper context and interpretation
- →You want to make any medical decision based on genetic results — always verify with a professional first
Data Quality Considerations
Raw data accuracy: Our analysis is only as good as the input data. Consumer genotyping chips have error rates of approximately 0.1-0.5%. Rare allele calls may have higher error rates.
Coverage gaps: Consumer DNA tests cover ~600,000 to 700,000 SNPs out of the ~3 billion base pairs in the human genome. Important variants may not be present on the chip.
Population bias: Much genetic research has been conducted in populations of European descent. Risk estimates may be less accurate for individuals of other ancestries.
Evolving science: Genetic associations are updated as new research is published. A variant considered low-risk today may be reclassified as research progresses.