The Center for Genomic Medicine was established in 2014 as a collaborative partnership between the University of Alabama at Birmingham School of Medicine and the HudsonAlpha Institute for Biotechnology with the primary mission of conducting research in genomic medicine and facilitating translation of research findings into clinical practice. In support of this mission, the Center brings together multidisciplinary teams from both institutions, including physicians, clinicians, biotechnologists, geneticists, bioinformaticists, and other specialists who engage in collaborative research focused on genomic discoveries that will enhance and inform patient care.

Since its inception, the CGM has made impactful advancements in genomic medicine through pilot projects, NIH grants, the Alabama Genomic Health Initiative (AGHI), and several training opportunities. These advancements directly impact the people of Alabama, but they also ripple through the state to the rest of the world.

As part of the NHGRI-funded Clinical Sequencing Exploratory Research (CSER1) consortium, researchers at HudsonAlpha and UAB completed whole exome or genome sequencing for over 500 children affected by global developmental delay and intellectual disability (DD/ID). Through this study, almost 150 children were found to harbor a genetic variant explaining at least part of their condition. Identification of genetic causes often leads to more precise clinical diagnoses, more accurate prognostic information, and can end the costly and challenging medical “odysseys” in which numerous but ultimately futile tests are performed.

The team is also part of SouthSeq, a large collaborative NHGRI-funded project aimed at continuing and extending the work started by the original CSER consortium. SouthSeq focuses on sequencing for newborns from neonatal intensive care units (NICUs) in the Southeast United States. Throughout the course of the project, the researchers sequenced more than 600 newborns with signs suggestive of a genetic disorder.

The Alabama Genomic Health Initiative (AGHI), funded by the state of Alabama, launched in 2017 with the goal of preventing and treating disease by providing genomic testing, interpretation, and genetic counseling free of charge to residents in each of Alabama’s 67 counties. AGHI is a collaborative effort between UAB and HudsonAlpha. In 2020, AGHI launched a clinical pilot to evaluate the integration of genomic medicine into the primary care model of patient care – enrollment is ongoing. As of late 2021, AGHI has enrolled more than 7,000 individuals representing all 67 Alabama counties.