Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
Heidi CopeRebecca SpillmannJill A RosenfeldElly BrokampRebecca SignerKelly SchochEmily G KelleyJennifer A SullivanEllen MacnamaraSharyn LincolnKatie Golden-Grantnull nullJames P OrengoGary ClarkLindsay C BurrageJennifer E PoseyJaya PunethaAmy RobertsonJoy CoganJohn A PhillipsJulian A MartinezVandana ShashiPublished in: Molecular genetics & genomic medicine (2020)
These examples demonstrate that when a diagnosis is elusive, an iterative patient-specific approach utilizing assessment options available to clinical providers may solve a portion of cases. However, this does require increased provider time commitment, a particular challenge in the current practice of genomics.