Abstract:
Incidental findings (also known as unsolicited or secondary findings) in genomics are genetic variants that are detected in an individual, yet are unrelated to the current diagnostic question and the phenotype (associated features) of the disorder for which that person is being investigated. Reporting incidental genomic findings requires various considerations. One of these is that 'the clinical validity and utility of variants should be known', which is especially pertinent for those populations with a paucity of genomic reference data. Indeed, the need for great caution has been vividly highlighted by reversal of the predicted consequence of variants detected on investigation of cardiomyopathy in African Americans. Specifically, variants previously reported as pathogenic (affecting function, disease-causing) were reclassified as non-pathogenic (not affecting function, benign), when results were reviewed in the light of ethnic-specific reference data. Our concern is that there is a dearth of specific genomic reference ranges for various populations, including many Indigenous populations and that this limits the potential for them to benefit from genomic medicine.
Incidental inequity
Reporting incidental genomic findings requires various considerations. One of these is that 'the clinical validity and utility of variants should be known'.