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“Genetic testing” can mean different investigations

What question is the test meant to answer?
Common myopia risk

A polygenic score combines many variants to estimate susceptibility. Routine clinical usefulness remains limited.

A suspected inherited condition

Targeted clinical investigation may be appropriate for unusual early, severe or syndromic findings. A specialist decides what question to investigate.

These are different purposes. A consumer risk score is not a substitute for the clinical assessment of a child with unusual findings.

Ask the clinician to name the purpose before choosing a test. A family history, a prediction score and a diagnostic investigation provide different kinds of information.Sources: [1] [3] · Open or save this visual ↗

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