CASE STUDIES OF POTENTIAL ALABAMA GENOMIC HEALTH INITIATIVE PARTICIPANT OUTCOMES
Before AGHI : Reactive pharmacogenomic testing , a clinical emergency case study
Bob , a 62-year-old white male with heart disease , reports to the emergency department with chest pain . He is rushed to the cath lab at a hospital . His coronary blockage was successfully treated with stenting , and Bob was sent home with a prescription for clopidogrel ( Plavix ) and aspirin . Forty-five days later , Bob ’ s symptoms are back . He was brought to UAB Medicine and rushed to the cath lab again . His stent had thrombosed ( clotted off ) and needed to be revised . Pharmacogenetic testing showed that Bob was unlikely to respond to Plavix . His medications were switched to aspirin and ticagrelor ( Eliquis ). Bob is now doing well and has had no further complications in the past year .
Thanks to AGHI : Preemptive pharmacogenomic testing to prevent or minimize future complications
Jane is a 50-year-old African American female who participated in the AGHI in summer 2021 . Early in 2022 , Jane ’ s cardiologist tells her that she has coronary artery disease ( CAD ) and needs a stent placed in her heart . After the procedure , the cardiologist tells Jane that she will need to take an antiplatelet medication to prevent a blood clot from forming around the stent . Remembering that her AGHI report listed multiple medications that may not work appropriately for her , Jane asks her cardiologist to review her AGHI pharmacogenomic results in her electronic medical record . From her report , Jane ’ s cardiologist sees that she has a genetic change that prevents clopidogrel ( Plavix ), a commonly used antiplatelet , from working for her . Her cardiologist decides to prescribe an antiplatelet not affected by her genetic results , to help reduce the chance of a blood clot forming around her stent . Jane is grateful to have learned such valuable information from participating in the AGHI and now encourages her friends and family to join the study .
CASE STUDIES OF POTENTIAL ALABAMA GENOMIC HEALTH INITIATIVE PARTICIPANT OUTCOMES
Knowledge is Power : Lowering Risks
John is a 32-year-old Hispanic male scheduled for a routine visit with his primary care provider . Before his appointment , he is contacted by his doctor ’ s office and asked if he wants to participate in a new research study called the AGHI , which is providing a genomic screening test to patients . John decides to participate in the study , answers some questions about his health history , and has a blood sample collected at his scheduled appointment . Two weeks later , John gets a call from his doctor and learns that his AGHI test found a gene change that causes an increased risk for colon cancer . John is surprised by this result , because he does not know anyone in his family who ’ s had colon cancer . However , when he talked about this with his family , he learned that his grandmother passed away at an early age from cancer that was believed to have started in her colon . Because of his AGHI test result , John underwent a colonoscopy and had several colon polyps removed . He will continue to have colonoscopies regularly to remove polyps before they become cancerous . In addition to helping John lower his risk for cancer , his AGHI results allowed other family members to know about their potential risk and consider genetic testing for themselves . aghi . org 11