by Ali Al-Beshri, MD (PGY-3)

There has never been more exciting time for genomic medicine, and if you are living in Alabama, then you are in luck! Thanks to the large support by the state, the leadership at UAB, and Alabamians’ generous donations and support, several large programs for personalized and genomic medicine were made a reality. Patients seeking genomic testing now have more options than ever before. Those options include the Alabama Genomic Health Initiative (AGHI), Hugh Kaul institute for Personalized Medicine, and the Undiagnosed Disease Program, along with other programs provided by Children’s of Alabama Hospital. These efforts are led by faculty at UAB in collaboration with Hudson Alpha Bio Institute in Huntsville, one of leading institutes for genome sequencing in the United States.

Precision medicine is a model that describes tailored prevention and treatment based on the predicted response or risk of disease. This is established mainly by determining individual genetic variation, or by other molecular analyses. This term has replaced what was once known as personalized medicine, as the latter may be falsely be interpreted as therapy uniquely developed for each individual.

In an effort to further the goal of precision medicine in Alabama, UAB has recently recruited Matt Might, a former white house strategic leader appointed by former President Barack Obama. He is currently the director of Hugh Kaul Institute for Personalized Medicine, and actively collaborates with UAB clinicians and researchers to help construct individualized research plans for patients. He is also involved in pharmacogenomics at UAB, which now offers a genome guided treatment for depression, with hopes for broader applications in the future.

UAB also hosts the Undiagnosed Disease Program, where a multi-disciplinary, multi-specialty team helps patients whose symptoms have evaded diagnosis despite multiple evaluations. These patients typically have suffered for a long time and endured a diagnostic odyssey searching for an answer to their symptoms. After the initial assessment, many patients undergo whole exome sequencing which is analyzed by UAB specialists looking for genetic mutations that can potentially provide an answer. In many instances, genetic variants of unknown significance are suspected to be the culprit, sometimes in genes not previously associated with human disease, which leads to an interesting path of research and discovery.

Last but not the least, if you are a resident in Alabama, then you can register for AGHI. This is a statewide program which is being funded by a $2 million per year award by the state to UAB to support genetic testing of approximately 2,000 Alabamians annually for 5 years. It will provide immense data to help understand genetic diversity and vulnerability to diseases in Alabama. People who are tested will receive a report containing secondary findings for 59 actionable genes which are recommended to be reported by the American College of Medical Genetics. Those genes are related to tumor predisposition, connective tissue disease, cardiovascular conditions, and some specific metabolic diseases.

What an exciting time to be an Alabamian and be cared for at UAB!