Carrier screening reports
These identify variants you carry that may not affect your health but could be passed to children. Common panels cover cystic fibrosis, spinal muscular atrophy, fragile X, and hundreds of recessive conditions.
Most relevant for family planning. Both partners' carrier status matters for assessing combined risk.
Pharmacogenomics (PGx) reports
PGx reports predict how your body metabolizes specific drugs based on variants in genes like CYP2D6, CYP2C19, and TPMT. They inform dosing and drug selection for medications ranging from antidepressants to chemotherapy.
Share these with any prescriber before starting a new medication covered by your panel.
Rare disease and exome/genome reports
These analyze coding regions or the full genome for variants associated with Mendelian conditions. They include ACMG classifications (pathogenic, likely pathogenic, VUS, benign) and detailed variant-level data.
Often the most clinically actionable reports. Variant of uncertain significance (VUS) entries may be reclassified over time, so it is worth re-checking periodically.
Wellness and trait reports
These cover polygenic risk scores, nutritional traits, fitness markers, and lifestyle-oriented findings. Clinical utility varies. Some insights are well-supported, others are exploratory.
Useful for personal interest but generally lower priority for clinical sharing compared to diagnostic reports.
Whole genome sequencing summaries
A high-level overview of your entire sequenced genome: coverage statistics, major findings, and pointers to detailed sub-reports. Think of it as the table of contents for your genomic data.
Export this alongside the detailed sub-reports it references so your archive is self-contained.
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