Genomic Screening Identifies Individuals at High Risk for Hereditary Transthyretin Amyloidosis.

ABSTRACT: The TTR V142I variant associated with hereditary transthyretin amyloidosis (hATTR) is present in up to 4% of African American (AA) and 1% of Hispanic/Latinx (HL) individuals and increases risk for heart failure. Delayed and missed diagnoses could potentiate health disparities in these populations. We evaluated whether population-based genomic screening could effectively identify individuals at risk for hATTR and prompt initiation of risk management. We identified participants of the BioMe Biobank in New York City who received TTR V142I results through a pilot genomic screening program. We performed a retrospective medical record review to evaluate for the presence hATTR-related systemic features, uptake of recommended follow-up, and short-term outcomes. Thirty-two AA (N = 17)

SUBMITTER: Soper ER 

PROVIDER: S-EPMC7829706 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature