Patients meet with the medical geneticist and genetic counselor, who conduct a detailed review the patient’s health history, family history and previous genetic testing. Patient samples are obtained at this visit for genome sequencing, RNA sequencing and metabolic testing. The genome sequencing is processed, analyzed and interpreted with the help of Emedgene, a genomic interpretation platform that incorporates advanced artificial intelligence which combines the use of detailed phenotypic information and genomic annotations present in databases. The genomic variant analysis and interpretation is completed by a multidisciplinary team who discuss the final interpretation before making recommendations in a final report.
A multidisciplinary team called the Genome Board includes clinical providers, laboratorians and researchers who review the cases and this initial genomic report, RNA and biochemical analyses to help determine if an underlying cause of the patient’s symptoms can be found. Genome Board is held every other Friday at 11am. Please contact Nicole Johnson to be added to the Genome Board invitation list.
The Undiagnosed and Rare Disease Clinic is currently funded by an IU Precision Health Initiative grant.