Five Years of Advancements and Successes in Genomic Medicine!

Genomic medicine has the potential to provide us with an increased understanding of complex diseases and disorders and will play a pivotal role in the future of health care and personalized medicine. As the leaders of genomic medicine and research in the state of Alabama, the University of Alabama at Birmingham (UAB) School of Medicine and the HudsonAlpha Institute for Biotechnology established the UAB-HudsonAlpha Center for Genomic Medicine (CGM) in 2014 to facilitate research collaborations and the development of strategic initiatives between the two institutions. The CGM brings together experts and specialists from UAB and HudsonAlpha to accelerate research discoveries and clinical advancements in genomics to provide personalized therapies and treatments. Through pilot projects, NIH grants, the Alabama Genomic Health Initiative (AGHI), training opportunities, the CGM has made advancements in genomic medicine for the people of Alabama.

Paving the Way to Success – CGM Pilot Projects
From 2015 to 2017, the CGM funded nine internal pilot projects led by PIs at each institution. This effort has provided a platform for developing new projects and collaborations and securing external funding. Several of the PIs have been awarded NIH funding based on the preliminary results achieved with the pilot funding – CGM congratulates these PIs!
In 2018, the CGM funded five pilot projects that focused on the use of data and assessment of the community impact of our joint projects, especially AGHI.

National Funding for Local Projects – NIH Proposals
The collaboration of UAB’s clinical expertise with HudsonAlpha’s genetic and genomic technology and expertise has proven invaluable for securing NIH funding. Three out of four proposals submitted have been funded, including a postdoctoral training program in genomic medicine that was the first of its kind and a training program in genetics for underrepresented minority students.

In June 2015, the CGM was selected for an NIH – Institutional Ruth L. Kirschstein National Research Service Award (NRSA) grant, one of the first three Genomic Medicine T32 grants to be awarded in this new program from the National Human Genome Research Institute. The award provides $1.15 million over a five-year period. The purpose of this training grant is to recruit trainees from various disciplines and provide mentorship and clinical research training in genomic medicine. The program is co-directed by Greg Barsh, M.D., Ph.D., faculty chair at HudsonAlpha, and by Bruce Korf, M.D., Ph.D., Chief Genomic Officer for UAB Medicine and co-director of the UAB-HudsonAlpha Center for Genomic Medicine. Through a mix of coursework, clinical exposure and mentoring, the two-year training program teaches practical skills for applying computational tools to disease-gene discovery, patient genome interpretation and big data management in research and clinical settings. The program also prepares fellows to deal with the ethical, legal and social implications of genomic medicine.  To date, six trainees have been accepted into the program. The first two trainees, Drs. Nick Cochran and Miranda Brunette, successfully finished their training in 2017 and are pursuing careers in the area of genomic medicine.

“SouthSeq: DNA Sequencing for Newborn Nurseries in the South” is another CMG project that received NIH funding. In 2017, the project was awarded a four-year, $10 million U01 grant from the National Institutes of Health (NIH). The project, is part of a network of nationwide sites called the Clinical Sequencing Evidence-Generating Research Consortium, or CSER2, and enrolls infants in neonatal nurseries with birth defects and/or other signs suggestive of a genetic disorder. The project is led by HudsonAlpha faculty investigator Greg Cooper, Ph.D., together with HudsonAlpha Faculty Chair Greg Barsh, M.D., Ph.D., and Bruce Korf, M.D., Ph.D., Chief Genomic Officer for UAB Medicine. In 2018, the team was awarded two additional supplements, providing an additional $2 million.

The CGM was awarded a five-year, $1.2 million R25 training grant in 2018 from the National Human Genome Research Institute of the National Institutes of Health to fund a summer program for students at Historically Black Colleges and Universities in the state. The project will recruit 12 students each year from Alabama HBCU’s to participate in a two-year summer program with the CGM. The first summer, students will train at HudsonAlpha in Huntsville, acquiring foundational research skills and the second summer, the students will conduct mentored research at UAB or HudsonAlpha. The project is co-directed by Dr. Barsh and Dr. Korf with Dr. Daniel Bullard at UAB and Dr. Neil Lamb at HudsonAlpha as Co-PI’s. The program has started recruitment of the first twelve students.

A State’s Genomic Story – the Alabama Genomic Health Initiative (AGHI)
In addition to the success and progress towards the missions and goals of the institutes, the CGM is an instrumental part of the Alabama Genomic Health Initiative (AGHI). The AGHI is one of the first statewide efforts in the United States to harness the power of genomic analysis in routine medical practice. The vision of AGHI is to engage citizens and their health providers throughout the state in the use of genomic information to guide medical care. The program offers free genomic testing, interpretation and counseling to residents in all 67 counties in Alabama and uses the data from the genomic testing to advance scientific understanding of the role genes play in human health and disease. Now at the close of the second year of enrollment, and with over 3000 participants enrolled, the program has returned a number of results to participants in both the genotype and whole genome sequencing cohorts. The goal is to enroll 10,000 participants from the state of Alabama over the course of the planned five-year program. AGHI recruitment has expanded to include locations in Huntsville, Montgomery and Selma, with additional plans to expand to Tuscaloosa and Mobile. Pop-up clinics are held as one-time enrollment events in additional locations throughout the state.

The AGHI Oversight Committee is led by leaders from UAB and HudsonAlpha; Principal investigators for the AGHI include Drs. Bruce Korf, chief genomics officer for UAB Medicine; Greg Barsh, HudsonAlpha Institute for Biotechnology faculty investigator and chair; and Matt Might, director of UAB Hugh Kaul Precision Medicine Institute. There are six collaborative working groups associated with the AGHI, with leadership from both HudsonAlpha and UAB.

Training Opportunities:
The CGM provides a series of training opportunities and educational programs specifically designed for scientists, clinicians, and researchers. Since the beginning, the CGM has conducted Immersion Courses in Genetics and Genomics in Clinical Research. The courses involve four hours of lecture and discussion per day for an entire week and are held twice a year. Faculty from UAB and HudsonAlpha participate in teaching the courses, which focuses on the principles, major technologies and experimental approaches in genetics and genomics through both lectures and hands-on activities. On average, approximately 25-30 people register and attend the course.

Seminars hosted at HudsonAlpha, at UAB bring together experts in genetics, genomics, biotechnology, bioinformatics, medicine, and immunology and provide valuable academic learning and discussion opportunities.

The above mentioned, NIH funded, UAB-HudsonAlpha Genomic Medicine Postdoctoral Training Program provides mentorship and clinical research training in genomic medicine to selected trainees. Some of these courses are opened to all trainees at UAB and HudsonAlpha.

UAB and HudsonAlpha’s newly awarded, NIH funded, joint Summer Undergraduate Research Experience in Genomic Medicine (SURE-GM) provides training in genetics and genomics to students at Historically Black Colleges and Universities in the state.

Communications:
To engage the scientific community, the CGM has developed a website, a quarterly newsletter and an annual symposium – the next one is scheduled for May 1, 2019.

What is next?
Looking to the next five years and beyond, the CGM will continue to pursue its mission to improve the health of people in this region through advances in genomic medicine and focus on services, utility and benefiting the broader community. The CGM will continue to expand on the strengths and successes of AGHI, CSER and others while also exploring areas of potential synergy and innovation. The following focus areas have been identified for validation of interventions: pharmacogenomics, rapid genomic diagnostics, education, artificial intelligence for genetic counseling and implementation science. Integrated project teams will be established to further outline project ideas and prepare for applications in response to expected RFAs.

If you are interested in joining an integrated project team, please contact Aida Starling at astarling@hudsonalpha.org.

Organization:
Leadership and guidance for the CGM is provided by Drs. Bruce Korf, Greg Barsh and Richard Myers. Drs. Aida Starling (astarling@hudsonalpha.org), at HudsonAlpha and Shaila Handattu (hande@uab.edu), at UAB, serve as coordinators for the CGM and provide management and organization. They are also the Point-of-Contact for the partner institution and help facilitate all types of joint activities and manage requests for information, services, potential collaborators or mentors, meetings and whatever else is needed.