Prevalence of Alpha-1 Antitrypsin Deficiency, Self-reported Behavior Change, and Healthcare Engagement Among Direct-to-Consumer Recipients of a Personalized Genetic Risk Report

Chest. 2021 Oct 14:S0012-3692(21)04099-X. doi: 10.1016/j.chest.2021.09.041. Online ahead of print.ABSTRACTBACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is an autosomal co-dominant condition that predisposes to emphysema, cirrhosis, panniculitis, and vasculitis. Under-recognition has prompted efforts to enhance early detection and testing of at-risk individuals. Direct-to-consumer (DTC) genetic testing represents an additional method of detection.RESEARCH QUESTION: The study addressed three questions: 1) Does a DTC testing service identify previously undetected individuals with AATD? 2) What was the time interval between initial AATD-related symptoms and initial diagnosis of AATD in such individuals? and 3) What was the behavioral impact of learning about a new diagnosis of AATD through a DTC test?STUDY DESIGN AND METHODS: In this cross-sectional study, 195,014 individuals responded to a survey within the 23andMe, Inc. research platform.RESULTS: Among 195,014 study participants, the allele frequency for either the PI*S and PI*Z AATD variants was 21.6% (6.5% for PI*Z and 15.1% for PI*S); 0.63% were PI*ZZ, half of whom reported having a physician confirm the diagnosis. Approximately 27% of those with physician-diagnosed AATD reported first becoming aware of AATD through the DTC test. Among those newly-aware participants, the diagnostic delay interval was 22.3 years. Participants frequently shared their DTC test results with healthcare providers (HCPs) and the reported impact...
Source: Chest - Category: Respiratory Medicine Authors: Source Type: research