Definition
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.
