Alabama Genomic Health Initiative Annual Report Annual Report-AGHI FINAL | Page 4

WHAT IS THE AGHI?
The project, funded by an initial $2 million appropriation
from the Alabama Legislature to UAB, supports one of
the nation’s first statewide efforts to harness the power
of genomic analysis in helping identify those at high
risk for a genetic disease and to provide a basis for
continuing research into genetic contributors to health
and disease.
The University of Alabama at Birmingham (UAB),
in partnership with HudsonAlpha Institute for
Biotechnology, launched the Alabama Genomic Health
Initiative (AGHI) to better meet health needs across
the state.
$2 MILLION awarded from the state
of Alabama
10,000 ALABAMIANS to be
sequenced over a 5-year period
Participants from ALL
in the state
67 COUNTIES
59 SPECIFIC ACTIONABLE GENES
for which participants will be tested
The AGHI recruits diverse participants from every county in Alabama and provides genomic analysis and
interpretation to participants free of charge. For some, the results indicate an increased risk of a disease for
which preventive or treatment strategies exist. These participants receive genetic counseling and are provided
guidance for appropriate medical care. The initiative also features a health care provider and public education
campaign to help participants and providers understand the potential of genomic medicine to improve health.
WHAT IS
THE AGHI?
Over a five-year period, the AGHI’s goal is to enroll 10,000 persons, who will complete a simple health
questionnaire and provide a blood sample. From this simple blood draw, participants will have their DNA
analyzed for potential medically actionable conditions and contribute to a distinctive biobank unique to the
state of Alabama, allowing future medical research.
Most participants are generally healthy or receiving routine medical care. A second category of participants
will represent individuals with a serious condition that has not been diagnosed but which is suspected to be
caused by a genetic problem. Both groups will provide blood samples that will undergo genomic analysis at
HudsonAlpha in Huntsville.
Blood samples from the larger group – those that are generally healthy or receiving routine medical care – will
be tested with a genome-wide screening panel (a “genotyping array”) that assesses some 650,000 positions
in the genome, and that includes 59 specific genes in which knowledge of a problem can help prevent serious
problems such as cancer or heart disease. The 59 genes are referred to as “actionable” by the American
College of Medical Genetics and Genomics (ACMG). The 59 genes are those that are known to contribute to
disease and for which a potential for prevention or treatment exists.
Participants in which a problem is identified in any of the 59 ACMG actionable genes receive that information,
which is coupled with genetic counseling to provide interpretation of the results. Referral for appropriate
prevention strategies or treatment is provided.
Participants with undiagnosed conditions that are thought to be genetic receive a more extensive evaluation
known as whole genome sequencing, which is conducted at HudsonAlpha. Analysis and interpretation of these
results are also communicated to the patient/parents, and participants are linked to appropriate medical care,
potentially including the UAB Undiagnosed Diseases Program or the Smith Family Clinic for Genomic Medicine
on the HudsonAlpha campus.
The AGHI is one of the most ambitious single-state initiatives of its kind ever undertaken. These advances in
genomic medicine, researc