The Alabama Genomic Health Initiative: Knowledge is Power – Huntsville Business Journal

Imagine a world where disease can be quickly identified through genetic analysis.

Once considered the stuff of science fiction, genomic sequencing is now emerging to the forefront as a valuable means to identify and quite possibly, predict disease.

Genomic sequencing is an invaluable diagnostic tool for patients with rare genetic diseases. However, in the past, limited access, cost, and the understanding of its usefulness have been major challenges. As genomic testing has now become more available and affordable, it has made the uncovering of rare diseases, as well as the genetic potential for disease, an easier process.

In 2017, the Alabama Genomic Health Initiative (AGHI) was launched to address barriers to understanding genomics. It is one of the nations first state-funded efforts to harness the power of genomic analysis in finding answers for children and adults with undiagnosed medical challenges and adults who may have a high risk for developing certain diseases.

A collaborative effort among the University of Alabama at Birmingham, HudsonAlpha Institute for Biotechnology, and the state of Alabama, AGHI is led by Drs. Bruce Korf and Matthew Might of UAB and Dr. Greg Barsh of HudsonAlpha.

AGHI provides genomic testing, interpretation, and counseling free of charge to Alabama residents. The goal of the program is to engage at least 10,000 Alabamians in genetic testing, while educating participants about their genomic health.

AGHI is helping to improve patient care, not only by providing diagnoses, but also by giving the general public a foundational understanding of the importance and value of being informed about their genomic health, said Barsh. Through the AGHI platform we are able to provide an invaluable opportunity to physicians and geneticists to confirm or identify a diagnosis that has gone undiagnosed despite a vast array of previous medical testing.

The initial AGHI study results were recently published in Genetics in Medicine. The information reflects the first 176 rare disease participants and 5,369 participants in the first screening group.

Participants were recruited statewide. Each participant provided a blood sample, along with their personal and family health histories.

Two distinct groups of participants were identified: children and adults with undiagnosed rare diseases, and adults in the general population that did not have a personal or family history suggesting a genetic condition.

Participants in the rare disease group received genome sequencing, which evaluates a group of variants that are known to increase the likelihood of disease. The general population group received a genotyping test, a test that assesses each letter of a participants genetic code.

Of the 176 affected individuals in the rare disease group, thirty-five (19.9 percent) received a pathogenic or likely pathogenic result, indicating that a genetic variant was identified and thought to contribute to disease. Forty-two participants (23.9 percent) received an uncertain result, suggesting that a found genetic variant might have the potential to contribute to disease.

All participants received a report summarizing the results of their tests. Individuals whose results include actionable findings received genetic counseling and a referral to appropriate medical care.

Understanding the results and the implications associated with the findings are crucial for participants, as well as for their families. In some instances, the new genetic information might help physicians to make a diagnosis for a disease that has been yet undiscovered for months or years.

Being able to provide answers to individuals and their families who have been impacted by rare disease who may not have been able to otherwise access genome sequencing is one of the crowning achievements of AGHI to date, said co-author Kelly East, a genetic counselor at HudsonAlpha. We hope that the AGHI model can help inform similar programs elsewhere to give more communities awareness of and access to genomic testing.

For more information, visit hudsonalpha.org.

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The Alabama Genomic Health Initiative: Knowledge is Power - Huntsville Business Journal