CARDIOGENOMICS
CARDIOGENOMICS
HIGH-TECH HEART CLINIC LOOKS TO THE PAST FOR CLUES TO THE FUTURE
When dying young runs in the family , fear is never far behind . Will the same thing happen to me or my children ? Is there anything I can do to lower my risk ? These and other questions are common among patients of UAB Medicine ’ s new Cardiogenomics Clinic , one of only two of its kind in the southeast .
Launched in 2021 , the clinic uses genetic testing to develop a personalized plan for patients at risk for hereditary cardiovascular conditions , including abnormally high blood pressure or cholesterol , heart failure , abnormal electrical rhythms in the heart , and structural problems in blood vessels . Patients appreciate that the testing is often covered by insurance , and it is provided free to patients in the Cardiogenomics Clinic if they agree to allow a deidentified sample to be stored for research purposes
Clinic Director Pankaj Arora , MD , associate professor in the UAB Division of Cardiovascular Disease points to many examples in which a patient ’ s diagnosis led to testing of the immediate family and action that helped minimize complications for another family member . “ That is a very satisfying and gratifying experience ,” Dr . Arora says .
Dr . Parcha and Dr . Arora Credit : Image shot by Andrea Mabry
“ We ’ ve had several referrals from families with a history of sudden cardiac arrest ,” says Vibhu Parcha , MD , a clinical research fellow in the UAB Division of Cardiovascular Disease . “ These individuals had a family member die in their 30s or 40s with heart disease and realize that they may be predisposed to a similar risk .”
ANSWERS IN THE GENES In many cases , patients receive whole-genome sequencing to seek out critical abnormalities inside their DNA code . The clinic also uses special gene panels to look for specific genetic variations .
“ There is a gene panel for heart failure and arrhythmias , for early heart attack , and for diseases of the blood vessels ,” Dr . Arora says , naming just some of the options . “ If you hear about a 40-year-old having a heart attack , that is unusual . Now we can examine that at the genetic level .”
Research by the team behind the Cardiogenomics Clinic has demonstrated that certain genetic variations – and the corresponding risk of heart disease – are higher in some populations . In a paper published in spring 2022 in the Journal of the American Medical Association , Drs . Parcha and Arora and co-authors reported that people carrying the Val122lle variation in the transthyretin gene were at significantly higher risk of heart failure and death . Notably , this genetic variant is more common among those of African ancestry ; 3.1 % of more than 7,500 Black participants in the UAB study carried the gene . Those carrying this genetic variation were 2.5 times more likely to experience heart failure and had a 40 % higher risk of death from any cause than non-carriers .
Drs . Arora and Parcha also lead the UAB Cardiovascular Clinical and Translational Research Program , which created a biobanking effort known as UAB CARBON ( for Cardiovascular Research Biobank ) that is building a database of deidentified samples to allow researchers to uncover new connections between genetic variations and heart conditions . Advancing research and bettering the lives of patients and their families is central to the work being done in the UAB Cardiogenomics Clinic .
24 UAB Cardiovascular Institute Annual Report