You've Just Opened Your Results — Now What?
Opening a genetic report for the first time can feel like reading a foreign language. Pages of acronyms, percentages, and terms you've never seen before. Take a breath. Most of what you'll see is either reassuring background information or context for a small number of meaningful findings.
This guide breaks it all down — no science degree required.
The Jargon, Translated
Variant — a small difference in your DNA compared to a reference. Most variants are completely harmless; they're just part of normal human diversity.
SNP (Single Nucleotide Polymorphism) — think of this as a single letter change in your genetic code. Your genome contains billions of letters; one different letter rarely means much on its own.
Pathogenic / Likely Pathogenic — these are the variants worth paying close attention to. They've been associated with increased disease risk in clinical studies.
Variant of Uncertain Significance (VUS) — a change that's been detected but scientists don't yet have enough data to confirm whether it's harmful. A VUS is not a diagnosis.
Carrier Status — you carry one copy of a gene variant associated with a condition, but are unlikely to develop it yourself. This matters most for family planning.
What to Focus On — and What to Ignore
- Pay attention to: Pathogenic or likely pathogenic findings, elevated polygenic risk scores for conditions with a family history, and carrier status if you're planning a pregnancy
- Don't panic about: Variants of uncertain significance, slightly elevated risk scores for common conditions, or findings without a family history context
When Results Are Clinically Important
Some findings warrant a conversation with a doctor or genetic counsellor as soon as possible — particularly variants in genes like BRCA1/2, Lynch syndrome genes, or those linked to inherited heart conditions.
Your Next Steps Checklist
- Read the summary section first — most reports highlight key findings at the top
- Note any pathogenic or likely pathogenic findings
- Consider whether findings are relevant to your family history
- Book a follow-up with a genetic counsellor if anything is unclear
- Share relevant findings with your GP
If you're unsure what your results mean, a Jeen genetic counsellor can walk you through them step by step — in plain language, without the overwhelm.
