Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients can live months, years or even the decades with the undiagnosed or misdiagnosed conditions. Obtaining a diagnosis is a difficult journey, costing patients and society a lot of suffering, time and money. Patients with these undiagnosed disorders often have complex presentations and require treatment by multiple healthcare specialists.

Availability of the modern more effective precision medicine tools is currently restricted to a handful of patients lucky enough to have access to exclusive prominent institutions. Solving genetic cases via broad collaboration with the research community and crowdsourcing benefits patients lows costs for healthcare providers and promotes research through discovering more clinically valid genes.