How your DNA is analyzed
Software processes the laboratory data. A scientist checks every finding against public evidence, and explains what it means for you.
From your swab to your report
Sequencing
The laboratory, Gene by Gene in Houston, takes the DNA from your swab and reads it in short pieces, millions of them.
Quality checks
The pieces are lined up on the human genome. Each position must be read enough times, about 30 on average, before it is used.
Finding the differences
Software lists every place where your DNA differs from the reference: single letters, small gaps and larger changes.
Checking the evidence
Each difference that may matter is checked against public databases, medicine guidelines and published studies.
Your health answers
Your health answers, and blood tests if you share them, decide which findings come first. Weak evidence stays out of the main list.
Written and checked
Findings with medical consequences are reviewed a second time.
See the result in an example report. The glossary explains the words used in reports.
The evidence behind each finding
ClinVar
We check each DNA change in ClinVar, the US National Institutes of Health database of changes linked to health conditions. When laboratories disagree about a change, we weigh each submission by how carefully it was reviewed.
ACMG and AMP standards
The rules for grading a DNA change from benign (harmless) to pathogenic (causes disease). Your report uses published grades only.
PharmGKB and CPIC
Evidence and expert guidelines on how genes change the response to medicines. Your report uses only well-supported guidance.
gnomAD and 1000 Genomes
How common each DNA change is around the world. A change can be rare overall and common in one population. We check it in the population closest to yours.
Published research
Each finding names the studies and guidelines behind it. You find them under each finding in your online report.
What a DNA report cannot do
It informs. Your doctor diagnoses.
The report is informational and educational. Findings with medical consequences are flagged for you to take to your doctor or a genetic counselor.
A risk score is shown only when it holds up
A risk score adds up thousands of small genetic effects into one number. Your report shows one only if it held up when checked against people of your ancestry. Most scores were built mainly on people of European ancestry. A score cannot predict what will happen to you.
A variant is not a diagnosis
How much a variant raises the chance of a condition depends on the gene. For a few, such as BRCA1 or the Lynch syndrome genes, the rise is large. For most it is small. Other genes, your environment and chance also play a part.
The science changes
Your report uses the evidence available on the day it is written. If a variant in your report is reclassified later, write to us and we will send an updated note.
Some regions are hard to sequence
A few parts of the genome are repetitive or very similar to other parts. Results there are less certain. Your report says when a result falls in one of them.
Test once. Keep it for life.
Your DNA stays the same all your life. Adriano De Marino, PhD, reviews every report.
Order your test