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Some thoughts triggered by the Barcelona #ECTB2018 meeting. 1) Genomic Medicine is here, *now*, certainly for rare disease. Exome or Genome (doesn't really matter which) is *cost effective* at diagnosis and informing management of rare diseases.
This means ~2% of live births in *every* country (certainly every country with a developed healthcare system) should have an exome or genome, plus parents (usually ~2.5 genomes per suspected rare disease genome)
This is solid, replicated, multi-system experience, and means that over time, ~5% of every population should have their genome sequenced. Every country should be actively planning this, and working out how to operationalise it inside their healthcare system.
