2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Genomic Medicine and Primary Care: The Alabama Genomic Health Initiative

Genomic Medicine and Primary Care: The Alabama Genomic Health Initiative

Pdf Summary

The Alabama Genomic Health Initiative (AGHI) is a state-funded research study that aims to provide access to genomic technologies and explore population-based screening for rare genetic disorders. The study, conducted by the University of Alabama at Birmingham (UAB) and the HudsonAlpha Institute for Biotechnology, has partnered with UAB Family and Community Medicine to implement genomic medicine into primary care.<br /><br />Participants for the study are recruited from existing family and community medicine clinics in Birmingham, Hoover, and Selma. They complete a family health history questionnaire and provide a medication list. Genotyping array testing is performed to identify pharmacogenetic information and variations in disease risk genes. Variants in disease risk genes are confirmed through Sanger sequencing.<br /><br />Pharmacogenetic and disease risk results are returned to participants and their physicians. A genetic counselor contacts both parties to address immediate concerns and discuss next steps. High-risk family history is highlighted in disease risk reports. Pharmacogenetic reports are annotated by pharmacists based on the participant's current medications.<br /><br />The study has enrolled 941 participants, with 73% female and 66% African American. Family history risk assessment has been completed for 877 participants, with 46% reporting a personal or family history indicating higher genetic disorder risk. Disease risk result analysis and validation have been completed for 882 participants, with 2.2% receiving medically-actionable results.<br /><br />Future directions include assessing the clinical outcomes of participants with actionable results and identifying barriers to implementing genomic medicine in primary care. The study acknowledges the State of Alabama, AGHI Oversight Committee, AGHI Recruitment Working Group, UAB Department of Family and Community Medicine, and the participants for their contributions.<br /><br />In summary, AGHI is a state-funded research study in Alabama that aims to provide access to genomic technologies and evaluate population-based screening for rare genetic disorders. The study has partnered with UAB Family and Community Medicine to implement genomic medicine in primary care. Participants are recruited from existing clinics and undergo genotyping testing. Results are returned to participants and their physicians, with genetic counseling provided. The study has enrolled a diverse population, and future research will assess clinical outcomes and barriers to implementing genomic medicine in primary care.

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Presenting Author - Whitley V. Kelley, MS; Co-Author - Kelly M. East, MS, CGC; Co-Author - Irfan Asif, MD; Co-Author - Lori Bateman, PhD; Co-Author - Gregory M. Cooper, PhD; Co-Author - Brittney Davis, PharmD; Co-Author - Candice R. Finnila, PhD; Co-Author - Blake Goff, PharmD; Co-Author - Melissa A. Kelly, PhD; Co-Author - Irene Moss, MA; Co-Author - Donald R. Latner, PhD; Co-Author - James Lawlor, MS; Co-Author - Thomas May, PhD; Co-Author - Mariko Nakano-Okuno, PhD; Co-Author - Tiffany Osborne, BA; Co-Author - Stephen Sodeke, PhD; Co-Author - Adriana Stout, BA; Co-Author - Michelle L. Thompson, PhD; Co-Author - Gregory S. Barsh, MD, PhD; Co-Author - Nita Limdi, PharmD, PhD; Co-Author - Matthew Might, PhD; Co-Author - Bruce R. Korf;

Meta Tag

Genetic Testing

Pharmacogenomics

Population Genetics

Public Patient and Professional Education

Co-Author Kelly M. East, MS, CGC

Co-Author Irfan Asif, MD

Co-Author Lori Bateman, PhD

Co-Author Gregory M. Cooper, PhD

Co-Author Brittney Davis, PharmD

Co-Author Candice R. Finnila, PhD

Co-Author Blake Goff, PharmD

Co-Author Melissa A. Kelly, PhD

Co-Author Irene Moss, MA

Co-Author Donald R. Latner, PhD

Co-Author James Lawlor, MS

Co-Author Thomas May, PhD

Co-Author Mariko Nakano-Okuno, PhD

Co-Author Tiffany Osborne, BA

Co-Author Stephen Sodeke, PhD

Co-Author Adriana Stout, BA

Co-Author Michelle L. Thompson, PhD

Co-Author Gregory S. Barsh, MD, PhD

Co-Author Nita Limdi, PharmD, PhD

Co-Author Matthew Might, PhD

Co-Author Bruce R. Korf

Presenting Author Whitley V. Kelley, MS

Keywords

Alabama Genomic Health Initiative

state-funded research study

genomic technologies

rare genetic disorders

University of Alabama at Birmingham

HudsonAlpha Institute for Biotechnology

primary care

genotyping array testing

genetic counselor

clinical outcomes