Genetic counselling: genomic uncertainties

Abstract

Genomic sequencing technologies are increasingly used in health. Improvements in sequencing technology and reductions in its cost mean that the default approach is frequently to obtain more genomic information rather than less. However, the volume of genomic data does not necessarily track with its ability to be interpreted, and it is widely acknowledged that genomic sequencing can increase, rather than resolve, uncertainty for patients and their families. Uncertainty in genomics impacts both professionals and patients. The near certainty of uncertainty should be factored into all elements of the genetic and genomic testing process, from initial test offer to longer-term follow-up. In some circumstances, uncertainty can provide a valid reason to restrict the scope of testing. Given its resource implications, uncertainty in genomics should also be considered at the health system level. Ethical provision of genomic sequencing in health care necessitates both planning for uncertainty and minimising its impact on all stakeholders.