Alabama Genomic Health Initiative Annual Report Annual Report-AGHI FINAL | Page 18

WORKING GROUPS: GENOMICS
Members of this working group have many years of experience in sequencing,
analyzing, and interpreting genomic data. They have conducted genomic sequencing
for over 550 individuals with diseases and draw upon experience gained during the past
four years through a National Human Genome Research Institute-funded project.
Specifically, as it relates to the AGHI, the Genomics working group has:
• Established a pipeline for conducting DNA isolation, WGS library construction, and
WGS for individuals exhibiting symptoms of a rare disorder. It also established a wet
lab pipeline for genotyping individuals, via the GSA, who do not have a rare disease.
• Established an analysis pipeline for the annotation, identification, and interpretation of
WGS data and genetic variation assessed by the GSA.
• Received samples from 18 families for whole genome sequencing at North Alabama
Children’s Specialists in Huntsville, Children’s of Alabama at Birmingham, and The
Kirklin Clinic. All 18 families had an individual with an unexplained rare genetic
disorder. Sequencing and analysis has been completed for 7 families, and the
remaining 11 are at various stages along the analysis pipeline. As of September 29,
2017 the AGHI had received samples from 343 individuals for genotyping via the GSA.
Analysis has been completed for 208 individuals, 40 are currently being analyzed, and
the remaining 95 are in various stages along the analysis pipeline.
• Assembled an expert group of researchers, clinicians, genetic counselors, and
bioethicists to serve on a variant review committee. This group meets monthly to
determine the medical relevance and returnability of identified genetic variation to
AGHI participants.
• Generated a detailed technical genetic report for communicating findings to members
of the variant review committee and participants’ providers
• Established a process for independently validating genetics results identified through
WGS or by the GSA. These results will be certified according to the College of
American Pathologists Clinical Laboratory Improvement Amendments (CAP/CLIA)
regulatory requirements and are suitable for inserting into the medical record.
Genomics
Working Group
Leaders
The Alabama Genomic Health Initiative Genomics working group was charged with
developing a plan for analyzing AGHI participants’ blood samples for whole genome
sequencing (WGS) or Illumina’s Global Screen Array (GSA) and creating a report of
the results to return to consenting participants and with participants’ permission, their
providers. This working group was also responsible for forming a collaborative variant
review committee to determine actionable findings that would be communicated.
Comprised of genetic counselors and physicians, the committee determines how to
communicate medically relevant genetic information to participants and their providers.
Greg Cooper, PhD
Faculty Investigator at
HudsonAlpha Institute
for Biotechnology
Anna Hurst, MD
Assistant Professor
in UAB Department
of Genetics
Next steps:
• Continue to fulfill the laboratory demands of increasing sample volumes
• Regularly meet with the Variant Review Committee to discuss results of genotyping
and whole genome specimens
• Identify opportunities for collaboration about unique genome sequencing findings
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Alabama Genomic Health Initiative Annual Report
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