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The findings from genome sequencing that directly relate to the clinical question/disease being investigated; it also can be known as primary findings or main findings.

Use in clinical context

Genome sequencing can reveal many things about the individual, including the genomic causes of a known condition, additional genomic predispositions to other diseases/conditions and family relatedness (e.g. non-paternity). Within healthcare, genome sequencing results in relation to a particular disease/condition are termed pertinent findings. All other findings are secondary.

Related terms


Last updated on 30th May, 2019