MAY 10, 2018 01:30 PM PDT

Population Genomic Screening: The Alabama Genomic Health Initiative

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  • Professor and Chair, Department of Genetics, Director, Heflin Center for Genomic Sciences, UAB
      Dr. Korf is the Chief Genomics Officer, UAB Medicine, Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics, Professor of Genetics, Co-Director of the UAB-HudsonAlpha Center for Genomic Medicine, Associate Director for Rare Diseases, Hugh Kaul Personalized Medicine Institute and editor-in-chief of the American Journal of Human Genetics.
      He is a medical geneticist, pediatrician, and child neurologist, certified by the American Board of Medical Genetics and Genomics (clinical genetics, clinical cytogenetics, and clinical molecular genetics), American Board of Pediatrics, and American Board of Psychiatry and Neurology (child neurology). Dr. Korf is past president of the Association of Professors of Human and Medical Genetics, past president of the American College of Medical Genetics and Genomics, and current president of the ACMG Foundation for Genetic and Genomic Medicine. He has served on the Board of Scientific Counselors of the National Cancer Institute and the National Human Genome Research Institute at the NIH. His major research interests are molecular diagnosis of genetic disorders and the natural history, genetics, and treatment of neurofibromatosis. He serves as principal investigator of the Department of Defense funded Neurofibromatosis Clinical Trials Consortium, the Alabama Genomic Health Initiative, and the Southern All of Us Network. He is co-author of Human Genetics and Genomics (medical student textbook, now in fourth edition), Medical Genetics at a Glance (medical student textbook (now in third edition), Emery and Rimoin's Principles and Practice of Medical Genetics (now in 6th edition), and Current Protocols in Human Genetics.


    As the costs of genomic analysis decline it becomes possible to offer widescale population genomic analysis to screen for genetic disorders.  The Alabama Genomic Health Initiative was established in 2016 with funding from the State of Alabama to establish such a program on a research basis.  The ultimate goal is to offer genotyping to 10,000 adult volunteers in the state.  After obtaining informed consent, a blood sample is obtained, DNA isolated, and genotyping done using the Illumina Global Screening Array.  Pathogenic or likely pathogenic variants in genes associated with actionable disorders are Sanger verified on a separate blood sample, focusing on the ACMG secondary findings list (currently 59 genes).  Participants are informed of no actionable variants found by mail, or contacted by phone by a genetic counselor if an actionable pathogenic/likely pathogenic variant is identified.  They are then offered further evaluation and management in an appropriate specialty clinic, as well as genetic counseling and facilitation of testing other family members.  Participants are also asked to consent to having their genomic data be maintained in a research database, along with medical information based on their electronic health record and/or questionnaires they complete.  We currently do not return pharmacogenomic data, carrier status, or ancestry-related information, though we are considering doing some of these in the future.  The talk will review progress in the Initiative to date and considerations on future return of results and research questions.

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