Nita Limdi, Pharm.D., Ph.D.More than 10,000 Alabamians have received genetic testing that could change the course of their health through the Alabama Genomic Health Initiative. Supported by the State of Alabama and driven by a shared goal to improve health outcomes through science and collaboration, AGHI, led by the University of Alabama at Birmingham and the HudsonAlpha Institute for Biotechnology, has reached this milestone in its effort to make precision medicine available to all Alabamians.
Representing all 67 counties, participants have benefited from AGHI’s commitment to accessible, expert-guided genomic services. Each individual receives personalized results explained by local genetics professionals — including geneticists, genetic counselors and pharmacists — ensuring clarity and support in understanding their health risks.
“This milestone reflects our shared commitment to bringing the promise of precision medicine to every Alabamian, regardless of where they live,” said Nita Limdi, Pharm.D., Ph.D., associate dean for Genomic Medicine in the Marnix E. Heersink School of Medicine, director of the Alabama Genomic Health Initiative and associate director of the UAB Hugh Kaul Precision Medicine Institute. “By identifying genetic risks before symptoms develop and integrating that information into care decisions, we’re helping patients, families and physicians make more informed choices that can prevent serious disease and improve outcomes.”
The future of genomic health in Alabama
AGHI has been at the forefront of genomic medicine in Alabama since 2017, being the first to show the power of genetic and genomic testing strategies and technologies that have already been adopted more broadly. AGHI continues that mission to bring precision medicine to both rural and urban communities, with a focus on access and education. The initiative is laying the groundwork for genomic medicine to become a routine part of primary care, ensuring every Alabamian benefits from advances in science and technology.
Turning genetic insights into early interventions
AGHI returns results that can change treatment decisions and help prevent disease before it develops.
Nearly 9,000 participants have received information related to genes associated with hereditary cancers, cardiovascular conditions and certain metabolic disorders. The number of genes tested has expanded from 59 in 2017 to 81, in alignment with recommendations from the American College of Medical Genetics and Genomics.
Actionable findings can guide medical decisions such as earlier screening or closer monitoring. For example, individuals with a BRCA1 or BRCA2 variant may be referred to breast health clinics for earlier and more frequent cancer screening.
Bringing answers to families with undiagnosed diseases
AGHI provides whole genome sequencing, or WGS, for patients with unresolved medical conditions. Since 2017, 1,432 patients and their families have received answers through WGS, offering hope and clarity after extensive testing failed to yield diagnoses.
Greg Cooper, Ph.D.WGS through AGHI has identified a genetic cause in about 22 percent of previously undiagnosed cases. In 2024, HudsonAlpha introduced long-read genome sequencing, or lrGS, increasing diagnostic yield by an additional 7 percent by detecting complex DNA changes that standard sequencing might miss, with these additional gains likely to grow over time as the technology matures.
“Genome sequencing can provide answers to some of the most difficult medical mysteries and end the often years-long ‘diagnostic odyssey’ that many families affected by rare disease endure,” said Greg Cooper, Ph.D., faculty investigator at HudsonAlpha. “These results provide concrete information vital to better clinical management and planning and lay the foundation for better treatments in the future.”
For many families, these results have been life-changing, bringing long-awaited answers, targeted treatment options and a clearer understanding of their health risks.
Tailoring prescriptions through pharmacogenomics
A Clinical-Genomic Database to enable future research and offer additional innovative treatments to our patients
All consenting participants’ data are securely stored in a research database, ensuring privacy while enabling researchers to uncover new insights into diseases such as diabetes, heart disease, epilepsy and cancer. Over 90 percent of participants have agreed to be recontacted for future research, allowing researchers to offer novel and innovative treatments to those who qualify.
In 2021, AGHI introduced pharmacogenomic, or PGx, testing, helping participants understand how their genes affect their response to medications. So far, 2,522 individuals have received PGx results, empowering physicians to tailor prescriptions and dosages for improved effectiveness and reduced side effects.
Through in-house PGx testing at UAB, results are embedded directly into the electronic health record, providing clinical decision support alerts at the point of prescribing. This real-time integration allows physicians to make faster, safer and more personalized prescribing decisions for medications such as antidepressants, anticonvulsants, pain relievers, cardiac drugs, immunosuppressants and antivirals.
Building a model for precision medicine
The success of AGHI stems from a unique partnership between UAB and HudsonAlpha, combining UAB’s clinical reach and patient care network with HudsonAlpha’s research and bioinformatics expertise.
“This partnership demonstrates what’s possible when academic medicine and biotechnology unite with a shared purpose,” Limdi said. “AGHI is now a national model for how to expand, scale and sustain genomic medicine providing access for all Alabamians.”
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