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Whole Genome Sequencing

Patients with complex, undiagnosed medical conditions have been recruited by Geisinger's Genomic Medicine Institute to participate in a clinical whole genome sequencing program designed to end the diagnostic odyssey by helping to diagnose the condition and improve their healthcare. Forty-three families participated in the first phase of the program. A second phase is now underway that will enroll an additional 30 families. In several cases, sequencing has identified genetic variants that explain the child's condition and changed medical management. Results of whole genome sequencing are in the process of being returned to participating families. A related project is looking at how to improve communication of results to patients and their families.

New opportunities to use whole genome sequencing to support diagnosis and management of undiagnosed medical conditions are in development. In addition, the team is utilizing alternate ways to evaluate the vast amount of genome data generated as a result of whole genome sequencing. For example, regions of the genome that previously were considered "junk DNA" are now being analyzed for their contribution to human medical conditions.


  • Marc S Williams, MD
  • Janet L Williams, MS, LGC