Ten years ago, it was not possible to quickly sequence a person’s entire DNA makeup, much less identify a specific cause of disease and pinpoint the most appropriate therapy. Today, hundreds of thousands of individuals around the world are having their genomes sequenced resulting in new diagnoses in the clinic and identifying new disease-causing variants in research projects almost weekly.

In Alabama, access to genomics is rapidly expanding, and changing the face of clinical care and research in the state.

At the Smith Family Clinic for Genomic Medicine, we offer genomic services to diagnose rare and undiagnosed or misdiagnosed conditions. Additionally, individuals without a specific diagnostic interest can undergo elective whole genome sequencing to gain a better understanding of their DNA and to utilize that information, along with their physician, for personalized healthcare.

HudsonAlpha is in its second year of Information is Power, an initiative that offers 30-year-old women and men in North Alabama free genetic cancer screening for breast, ovarian, prostate and other cancers.

A new research initiative has also begun statewide. The Alabama Genomic Health Initiative (AGHI) is a collaboration between HudsonAlpha Institute for Biotechnology and UAB-Medicine. Through the initiative, individuals who seek a diagnosis may obtain whole genome sequencing as part of a research program. AGHI also offers a gene assay to individuals who are interested in joining the research initiative; the assay identifies whether participants have one or more of 59 genes that are considered “clinically actionable.”

Alabama children with a developmental delay and other neurological symptoms may also be enrolled in the Clinical Sequencing Exploratory Research initiative, which utilizes whole genome sequencing to identify the causes of their delay/disease. So far, this initiative, led by Dr. Greg Cooper, has sequenced the genomes of more than 450 children and made 150+ diagnoses.

And in recent weeks, HudsonAlpha and UAB-Medicine were awarded funding through the National Institutes of Health for whole genome sequencing of newborns with unknown conditions believed to be genetic. This program will operate in underserved areas of Alabama, as well as parts of Mississippi.

Clearly, the utility of genomics is becoming better understood and leveraged by clinicians; however, there is still much to do. Education of new and established physicians is critical, as well as other allied professionals such as physician assistants and nurse practitioners. We must continue to demonstrate the utility and cost-savings derived through a genomic diagnosis – or genomic knowledge.

Ultimately, I believe genomics already is saving lives… and will continue to save lives and improve our health.

Howard Jacob, PhD


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