Important

Medical disclaimer

Never act on this alone

Do not start, stop or change any medicine, supplement, diet or treatment on the strength of anything here. Do not skip a screening because a result looked reassuring. Do not seek a screening you would not otherwise have had without talking to a doctor first. Take the report to a clinician and let them decide what, if anything, it means for you.

Why a reassuring result is not an all-clear

A consumer genotyping chip reads a tiny, fixed sample of the genome. For most genes it covers a handful of positions out of thousands of known harmful variants, which the coverage audit in the report shows you gene by gene using your own file. Not carrying the few variants your chip happens to test tells you very little about the gene as a whole, and nothing at all about variants nobody has catalogued yet.

Why an alarming result is often wrong

A clinical laboratory re-tested 49 people’s raw consumer files and found 40 per cent of flagged variants were false positives, with 8 further real variants misinterpreted by third-party services. This is why Sequencings refuses to report rare pathogenic variants at all, and why any result here that suggests a clinical question should be confirmed by an accredited laboratory before it is believed, let alone acted on.

Pharmacogenomics in particular

The medicine-response section is graded against published clinical guidelines, and it is genuinely useful to mention to a prescriber. It is not a prescription. Star-allele typing done properly considers combinations across many positions and, for some genes, copy number that a chip cannot see at all. Never change a dose yourself.

If a result worries you

Speak to your doctor, who can order a proper test. For anything inherited, a genetic counsellor is a real profession you can book, and they spend their working lives putting results like these in proportion. That is a far better next step than another website, including this one.

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