Using a polygenic score to account for genomic risk factors in a model to detect individuals with dilated ascending thoracic aortas.
John DePaoloGina BiagettiRenae JudyGrace J WangJohn KellyAmit IyengarNicholas J GoelNimesh DesaiWilson Y SzetoJoseph E BavariaMichael G LevinScott M DamrauerPublished in: medRxiv : the preprint server for health sciences (2023)
We demonstrated that inclusion of a PGS to the AORTA Score results in a small but clinically meaningful performance enhancement. Further investigation is necessary to determine if combining genetic and clinical risk prediction improves outcomes for thoracic aortic disease.