After the report arrives
You have a result. Now figure out what kind of result it is.
A raw variant, a consumer report, a research annotation and a clinically confirmed finding are not interchangeable. Start by identifying what you're looking at.
I have a raw file
VCF, FASTQ, BAM, CRAM, Ancestry, 23andMe or another download.
Identify the file →I have a variant name
Examples include an rsID, a gene plus change, or a ClinVar identifier. Treat database annotations as evidence to interpret, not a diagnosis by themselves.
Open ClinVar at NCBI →I have a medically important result
If this could change treatment, screening, surgery, pregnancy planning or another medical decision, professional review and confirmatory testing may be appropriate.
Find a genetic counselor →A useful ladder
From data to a decision
- Raw data: the base calls or variants your test generated.
- Annotation: databases and software attach known research and clinical assertions to a variant.
- Interpretation: evidence is evaluated in context, including conflicting classifications and your personal/family history.
- Confirmation: a medically consequential finding may be retested using an appropriate clinical method.
- Decision: treatment or screening choices belong in an appropriate clinical conversation.
Keep control of the data
Before uploading your genome to another interpretation service, check its privacy terms.
Your raw genome is unusually persistent personal data. It cannot be changed like a password. Know whether the service stores your file, shares de-identified data, uses it for research, permits deletion, and what happens if the company changes ownership.
Use the privacy checklist