Alabama Genomic Health Initiative Annual Report Annual Report-AGHI FINAL

Biobanking & Bioinformatics Working Group Leaders Jim Cimino, MD Director of UAB Informatics Institute AGHI: CURRENT & FUTURE SITES Current Sites The Alabama Genomic Health Initiative Biobanking and Bioinformatics working group was charged with developing a plan to manage confidential storage and future analysis of blood specimens, DNA, and analysis data returned by HudsonAlpha Institute for Biotechnology. This working group ensures the highest standards of confidentiality for participant data, while developing a bioinformatics plan for future research opportunities made possible by the AGHI. HUNTSVILLE The Kirklin Clinic of UAB Hospital, Birmingham DNA for Genetic Testing UAB Medical Towers, Birmingham During the first year of the AGHI, the biobank team developed a workflow for isolation and quantitation of genomic DNA from participant blood specimens. In addition, a workflow was established for the creation of DNA at a standardized concentration amenable for the genetic testing completed by HudsonAlpha. As of September 2017 almost 400 DNA samples have been shared with HudsonAlpha Institute for Biotechnology Clinical Services Lab (HAIB-CSL) for initial research-based genetic testing. For samples that require further review, a workflow has been established to allow for Clinical Laboratory Improvement Amendments (CLIA) compliant genetic testing to confirm final analyses. A data system between UAB and HAIB-CSL was developed to track the status of samples as they move through the cycle of enrollment, analysis, and return of results. WORKING GROUPS: BIOBANKING & BIOINFORMATICS Children’s of Alabama, Birmingham North Alabama Children’s Specialists, Huntsville Established Biobank Jeff Edberg, PhD Professor in UAB Division of Clinical Immunology and Rheumatology In addition to establishing systems for producing participant DNA that undergoes rigorous quality control and bioethical standards, the establishment of the AGHI Biobank was also completed in 2017. Working with the Participant and Provider Engagement working group, OnCore was selected as the software to track the AGHI study. OnCore integrates participant enrollment data, including demographics; medical record numbers (MRNs), when participants are established UAB patients; case report forms; and specimen availability. Working closely with the participant recruitment and enrollment leaders, this working group established a plan for the transfer and receipt of blood specimens to the Shelby Biomedical Research Building Lab at UAB. Over 900 specimens have been collected as of September 2017, resulting in an established biobank (-80oC) that contains the following: • 4,047 plasma specimen aliquots • 935 DNA specimens • 900 blood cell specimen aliquots that are stored for future DNA extraction needs from over 1000 participants TUSCALOOSA Planned Future Sites for FY18 Huntsville Montgomery SELMA MONTGOMERY Selma Tuscaloosa All specimens associated with a UAB MRN are represented in the UAB i2b2 (Informatics for Integrating Biology and the Bedside) system, which is discoverable for future use. Mobile Bioinformatics The data set collected through the AGHI is a resource that will support precision medicine research for years to come. At enrollment, participants provide basic information on a health questionnaire that indicates any known personal or family history of certain health conditions. This information is stored in the AGHI database in UAB’s OnCore study management system. Each participant also provides a blood specimen, which is sent to HudsonAlpha for genetic testing, generating more data. Both of these data are transmitted to i2b2, UAB’s research data warehouse. This data warehouse also holds data for patients who receive their medical care from UAB Health System. Next steps: MOBILE Prepare AGHI data warehouse so that future researchers who receive appropriate approval from the UAB IRB will be able to: • Analyze data in de-identified form to answer important research questions • Estimate the number of patients who might be eligible for future research studies • Identify AGHI subjects who have consented to be contacted again for the opportunity to participate in future research studies. 18 Alabama Genomic Health Initiative Annual Report www.aghi.org 19

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