When caring for a critically ill child, two simultaneous thoughts are competing – the urgent need for a diagnosis to optimize treatment and the need for thoroughness – to carefully review all the possibilities.  Don’t jump to a conclusion but don’t get lost in the weeds keeping the patient, and the others behind them, in limbo.  We commonly see accuracy and speed as a dichotomy.  This has certainly been true in the past in genomics – how many variants to review? Review variants from less likely parts of the genome? Use a more restrictive filtering rule?

We had been operating in a world where deciding to use some of the heuristic shortcuts or to time limit review meant settling for less than optimal accuracy. Time-saving techniques left some diagnoses on the cutting room floor.  These simple Pareto prioritizations that are highly effective in dealing with everyday clinical situations are inherently problematic in the rare disease world.  We cannot eliminate the zebras when we know it’s unlikely to be a horse…

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