Rare Diseases: How Genomics has Transformed Thinking, Diagnoses and Hope for Affected Families

The latest methods for sequencing DNA have already revolutionized our approach to the management of very rare diseases. It is now possible—using whole genome sequencing and whole exome sequencing of genomes—to diagnose phenotypically complex monogenic diseases in a significant number of cases. A pan-Canadian initiative launched in 2011 (FORGE) has developed a highly sophisticated and productive pipeline that has identified the causative genes for 67 % of cases studied. This has obvious impacts that are immediately actionable for families and their caring physicians as well as implications for implementing models of personalized medicine. It also promises to impact profoundly on our understanding of pathway biology and could accelerate the speed at which we develop medicines for both rare and common diseases.