ELSIcon2022 Late-Breaking: Impact of a direct-to-consumer (DTC) report on Alpha-1 antitrypsin deficiency (AATD) risk on clinical diagnosis of disease and on self-reported behaviors

ELSIcon2022 • Networking Session • Late-breaking Abstracts • June 2, 2022

Sarah Elson

Background: 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 among at-risk individuals. Direct-to-consumer (DTC) genetic testing represents an additional method of detection.
Methods: This study examined the impact of receiving a DTC AATD risk report. 195,014 customers of 23andMe, Inc, took an online survey that addressed AATD awareness, disease symptoms and diagnosis, and behaviors.

Results: Among study participants, 349 (0.2%) had the high-risk PI∗ZZ genotype in the SERPINA1 gene; half (50.1%) of these individuals reported having a clinical diagnosis of AATD. Half (51.1%) of PI*ZZ individuals shared their DTC result with a healthcare professional, and about 80% with a family member. Among participants who received the DTC AATD risk report, and who had physician-diagnosed AATD, 26% were diagnosed only after learning their genetic risk from the DTC report. These newly diagnosed individuals reported a longer diagnostic delay interval and less known family history of AATD than those who had an AATD diagnosis prior to obtaining the DTC report. Current smokers and alcohol consumers with risk variants were more likely to report reducing smoking and alcohol consumption after receiving their report.

Conclusion: DTC testing, in combination with clinical follow-up, can help identify previously undiagnosed individuals with AATD. Receipt of the DTC AATD report was associated with positive behavior change, especially among those with risk variants.