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.
Medical Laboratory Technician20%