An Electronic Health Record-Based Strategy to Enhance Detection of Alpha-1 Antitrypsin Deficiency

Because alpha-1 antitrypsin deficiency is severely underrecognized and delayed diagnosis is associated with harm, strategies to enhance early detection of alpha-1 antitrypsin deficiency are needed.

The study intervention was placing a reminder to test for alpha-1 antitrypsin deficiency within an electronic medical record health maintenance dashboard that houses prompts to providers to implement guideline-based recommendations. This recommendation was for all patients assigned a diagnosis of COPD based on relevant International Classification of Diseases, Tenth Revision codes. The rate of testing for and detecting individuals with alpha-1 antitrypsin deficiency was assessed in 12 one-month intervals before and after implementing the dashboard.

After the prompt, whereas testing was still performed in only a small percentage of guideline-concordant instances, the rate of testing for alpha-1 antitrypsin deficiency increased 3.8-fold (ie, from 1.2% to 4.6%, P < .05). This did not result in detection of new patients with alpha-1 antitrypsin deficiency. The rate of testing increased both for alpha-1 antitrypsin serum levels and genotypes in each month after the intervention, though the rate of genotype testing was 2-5-fold lower than the rate of testing for serum level.

The results of this preliminary study of a detection strategy for alpha-1 antitrypsin deficiency show that placing a reminder to test for alpha-1 antitrypsin deficiency when indicated in an electronic medical record health maintenance dashboard significantly increased the frequency of testing. Still, that only 4.6% of those in whom testing for alpha-1 antitrypsin deficiency was indicated were tested in the post-intervention period shows that, as for all other alpha-1 antitrypsin deficiency-targeted detection interventions to date, the impact of the intervention was marginal and that other strategies remain needed to mitigate underrecognition. A focus on combining targeted detection strategies (eg, coupling enhanced awareness with free testing) and population-based screening for alpha-1 antitrypsin deficiency is suggested.