Prevalence of Alpha-1 Antitrypsin Deficiency, Self-Reported Behavior Change, and Health Care Engagement Among Direct-to-Consumer Recipients of a Personalized Genetic Risk Report
| Autor: | James R. Ashenhurst, Hoang Nhan, Janie F. Shelton, Shirley Wu, Joyce Y. Tung, Sarah L. Elson, James K. Stoller, Michelle Agee, Stella Aslibekyan, Adam Auton, Elizabeth Babalola, Robert K. Bell, Jessica Bielenberg, Katarzyna Bryc, Emily Bullis, Briana Cameron, Daniella Coker, Gabriel Cuellar Partida, Devika Dhamija, Sayantan Das, Teresa Filshtein, Kipper Fletez-Brant, Pierre Fontanillas, Will Freyman, Pooja M. Gandhi, Karl Heilbron, Barry Hicks, David A. Hinds, Karen E. Huber, Ethan M. Jewett, Yunxuan Jiang, Aaron Kleinman, Katelyn Kukar, Vanessa A. Lane, Keng-Han Lin, Maya Lowe, Marie K. Luff, Jennifer C. McCreight, Matthew H. McIntyre, Kimberly F. McManus, Steven J. Micheletti, Meghan E. Moreno, Joanna L. Mountain, Sahar V. Mozaffari, Priyanka Nandakumar, Elizabeth S. Noblin, Jared O’Connell, Aaron A. Petrakovitz, G. David Poznik, Morgan Schumacher, Anjali J. Shastri, Jingchunzi Shi, Suyash Shringarpure, Chao Tian, Vinh Tran, Xin Wang, Wei Wang, Catherine H. Weldon, Peter Wilton |
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| Rok vydání: | 2022 |
| Předmět: |
Male
Pulmonary and Respiratory Medicine Pediatrics medicine.medical_specialty Genotype Critical Care and Intensive Care Medicine Direct-To-Consumer Screening and Testing alpha 1-Antitrypsin Deficiency Health care Prevalence medicine Humans Genetic Testing Allele frequency Genetic testing COPD Alpha 1-antitrypsin deficiency medicine.diagnostic_test business.industry Behavior change Primary care physician Odds ratio Middle Aged medicine.disease Female Self Report Cardiology and Cardiovascular Medicine business |
| Zdroj: | Chest. 161:373-381 |
| ISSN: | 0012-3692 |
| DOI: | 10.1016/j.chest.2021.09.041 |
| Popis: | 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 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 of learning a diagnosis of AATD was high. For example, 51.1% of PI*ZZ individuals shared their DTC result with an HCP. The odds ratio for PI*ZZ smokers to report smoking reduction as a result of receiving the DTC result was 1.7 [CI 1.4, 2.2] compared to those without a Z allele and for reduced alcohol consumption was 4.0 [CI 2.6, 5.9]. Interpretation In this largest available report on DTC testing for AATD, this test, in combination with clinical follow-up, can help to identify previously undiagnosed AATD patients. Moreover, receipt of the DTC AATD report was associated with positive behavior change, especially among those with risk variants. |
| Databáze: | OpenAIRE |
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