Publications by authors named "James Avecilla"
Article Synopsis
- Clinical genome sequencing (cGS) shows promise in diagnosing rare genetic diseases, especially in underserved populations, with a study examining its effectiveness across high-income and low- and middle-income countries.
- The iHope program assessed 1,004 individuals and found a 41.4% diagnostic yield, with those from low- and middle-income countries being 1.7 times more likely to receive positive results compared to high-income counterparts.
- Over 76% of individuals experienced changes in diagnostic evaluation, and around 41% had changes in management strategies, indicating increased access to genomic testing may help reduce healthcare disparities globally.
Background: Despite monogenic and polygenic contributions to cardiovascular disease (CVD), genetic testing is not widely adopted, and current tests are limited by the breadth of surveyed conditions and interpretation burden.
Methods: We developed a comprehensive clinical genome CVD test with semi-automated interpretation. Monogenic conditions and risk alleles were selected based on the strength of disease association and evidence for increased disease risk, respectively.