Abstract
A personal perspective on returning secondary results of clinical genome sequencing
Highlights
With mutations in over 2,000 genes currently causally associated with defects in human health, it is unrealistic to provide a definitive list of all variants that should or should not be considered for return
As a result of allelic heterogeneity in many disease-causing genes - for example, LMNA, which has more than ten clinical phenotypes associated with it that may be childhood or adult onset it is inappropriate to stratify genetic changes by the gene involved. erefore, it is necessary to stratify each specific genomic change by the predicted effects on the health of the individual and the confidence that it will lead to the health outcome expected [5,6]
Untreatable Tay Sachs disease Parkinson’s disease caused by mutations in PARK1. These health effects can be stratified by age of onset into childhood-onset and adult-onset effects, and we have subdivided these into those in which there is a recognized preventive or therapeutic intervention and those in which there is not [5] (Table 1)
Summary
Genome-wide copy number testing of minors has raised ethical issues with regard to variants of uncertain significance and the identification of adult-onset disease-causing variants. With mutations in over 2,000 genes currently causally associated with defects in human health, it is unrealistic to provide a definitive list of all variants that should or should not be considered for return. As a result of allelic heterogeneity in many disease-causing genes - for example, LMNA, which has more than ten clinical phenotypes associated with it that may be childhood or adult onset it is inappropriate to stratify genetic changes by the gene involved.
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