The hospital has launched concerted efforts in pediatric genomic medicine through a generous contribution from philanthropist Denny Sanford and Sanford Health.
The following projects are currently in progress:
- Utilization of rapid whole genome sequencing (rWGS) for children receiving care in the hospital’s three intensive care units to support diagnosis and treatment of critically ill children suspected to have an underlying genetic condition.
- Use of whole genome sequencing for patients and families on a “diagnostic odyssey” – a protracted search for a diagnosis of a rare genetic condition – offering answers that can help guide future medical care.
- Implementation of pharmacogenomics or matching a patient’s genetics to support medication selection.
Minority populations, including Hispanics and African Americans, are underrepresented in genomics. An estimated 96 percent of all known genetic information comes from people of Northern European heritage. In a multi-ethnic community like South Florida, this creates challenges in applying genomics to medicine.
Research studies within the PMI will garner information that will help build a database of common genomes from underrepresented minorities to support understanding of the population’s predisposition to certain diseases and responses to medications.