As part of our commitment to expanding access to genomic testing services in our state, the UAB Department of Genetics is proud to collaborate with various opportunities to obtain research based whole exome or genome sequencing. This testing is provided at no cost to individuals who meet criteria for participation. Please note that in many cases, a clinical genetics appointment is necessary for enrollment, and will be billed to the patient’s insurance in the normal manner. See below for additional information on these opportunities:

Alabama Genomic Health Initiative (AGHI) – Whole Genome sequencing cohort  

  • Available Populations: Pediatric or Adult (all ages)
  • Testing offered: Whole genome sequencing (WGS)
  • Inclusion / Exclusion criteria:
    • Participants must be residents of the state of Alabama
    • Acceptance for participation in whole genome sequencing is based on referral and review by the study coordinators

The Alabama Genomic Health Initiative is funded by the state of Alabama with the aim to provide genetic screening and genomic testing to residents from across the state of Alabama. This is made possible by collaboration between UAB and the HudsonAlpha Institute for Biotechnology. This study has two arms, a population screening cohort, and a whole genome sequencing (WGS) cohort. 

Population cohort: Most individuals will be offered genetic screening via a genotyping array as part of the population cohort. This array tests for some of the known disease causing variants in 59 medically actionable genes as defined by the American College of Medical Genetics and Genomics. This screening is available to any resident of the state of Alabama who is 18 years or older. No referral is necessary to participate, participants can sign up directly at www.aghi.org.  

Whole Genome Sequencing Cohort: A small number of individuals will be offered whole genome sequencing as a part of the AGHI. These individuals will be referred by a healthcare provider because they have signs or symptoms suggestive of an underlying genetic condition that has yet to be identified. This program accepts both pediatric and adult participants who are residents of the state of Alabama. If accepted, participants will have a clinical visit with a geneticist and genetic counselor, and go through the consent process. This visit will be billed to the patient’s insurance in the normal manner. Whole genome sequencing and follow-up genetic counseling for return of results will be provided at no cost. Any follow-up management or treatment that may be recommended due to the results of the genetic sequencing offered is not included as part of this study. To submit a referral for AGHI whole genome sequencing, please follow the link below.

AGHI WGS Referral Form

Please see the website for additional information about the AGHI: www.aghi.org

100 Genomes Project

For the Whole Genome Sequencing Application, click here to download the form.

Fax | 205-934-4111. Program Coordinator Tammi Skelton

All of Us

Learn about the All of Us Research Program