A new study has shown that the use of direct-to-consumer (DTC) genetic testing can be useful in detecting cases of alpha-1 antitrypsin deficiency (AATD) and might have a positive impact on health behaviors related to the disease.

The study, published in Chest, analyzed 195,014 responses to a survey assessing the prevalence of AATD, its clinical features, the delay in diagnosis among those with a new AATD diagnosis, whether the participants shared their diagnosis with family or healthcare providers, and any health behavior changes the participants made as a result of receiving their genetic report.

“Among the key findings from this study is that more than a quarter of those with physician-diagnosed AATD had received this diagnosis after receiving their 23andMe genetic result, suggesting that the DTC report helped to identify individuals who may have otherwise gone unrecognized,” the authors wrote.

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However, only half of the respondents with the PI∗ZZ genotype reported having a diagnosis of AATD, which suggests that a large number of individuals are still undiagnosed.

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The persistent underdetection of AATD was confirmed by the finding of an overall delay in diagnosis of 13.8 years among those with an AATD diagnosis, which is consistent with the findings of previous studies. However, in patients who learned of their AATD only after the DTC test, the delay was longer than prior studies had reported. The authors speculate that these individuals might have been less symptomatic or had a less known family history, leading to less screening. They note that further research and study are clearly needed.

A positive result of the study was that patients who learned they had high-risk genotypes were likely to share the results with their healthcare providers and attempt to improve health-related behaviors associated with that genotype. These outcomes, combined with clinical follow-up, could facilitate earlier diagnoses of unidentified individuals with AATD and lead to improved outcomes for these individuals.


Ashenhurst JR, Nhan H, Shelton JF, et al; 23andMe Research Team. 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. Chest. 2022;161(2):373-381. doi:10.1016/j.chest.2021.09.041