Direct-to-consumer (DTC) genomic testing services may aid in identifying individuals and families at risk for alpha-1 antitrypsin deficiency (AATD), according to a new study published in Chest.

Participants were recruited from patients who had previously received DTC genomic services from the company 23andMe and were provided access to the survey between September 2018 and April 2020. After excluding ineligible participants, a total of 195,014 individuals were included in the study analysis.

The study found that roughly 27% of participants who had physician-diagnosed AATD were first made aware of the disease through DTC test results.

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“In summary, these results suggest that DTC genomics services, in combination with clinical follow-up, may identify individuals with AATD who might otherwise go undetected,” the authors commented.

The study also showed that 21.6% of participants had abnormal alleles (PI*S or PI*Z) of the SERPINA1 gene that increase the risk of AATD. A total of 0.63% had the PI*ZZ genotype, and half of these patients (50.1%) reported having a physician-confirmed diagnosis of AATD.

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Of the study participants, 24.6% recalled viewing their personalized AATD report, and 10.4% of these participants reported sharing the report with a healthcare professional (HCP). Participants with the higher risk PI*Z variant were more likely to share the result than those without the variant, and over 40% of participants at highest risk (PI*ZZ) reported sharing the information with an HCP.

While sharing with an HCP was rarer, a higher percentage of patients reported sharing the results with family members (40.8% of participants who recalled viewing the results). The PI*ZZ group reported sharing their results with a sibling 59.2% of the time compared to only 14.9% of participants with lower risk alleles.

Of the participants who recalled seeing their report, those who had a PI*Z variant were more likely to report a decrease in smoking and alcohol consumption compared to those without the variant (odds ratios, 1.7 and 3.9, respectively).

“The information in the personalized AATD report seemingly encouraged important discussions within families about heritable risks for AATD and prompted positive self-reported behavior change, especially among those with greater genetic risk,” the authors concluded.


Ashenhurst JR, Nhan H, Shelton JF, et al. 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. Published online October 14, 2021. doi:10.1016/j.chest.2021.09.041