Researchers studied the feasibility of using electronic medical records (EMRs) and electronic patient messages to encourage patients with chronic obstructive pulmonary disease (COPD) to undergo testing for alpha-1 antitrypsin deficiency (AATD), an under-recognized disease.

They discovered that this strategy exceeded expectations, even if the response rate was still relatively low. This was according to a study published in Chronic Obstructive Pulmonary Diseases: Journal of the COPD Foundation.

Many patients with COPD do not undergo AATD testing, even though current guidelines recommend that patients with COPD who have fixed airflow obstruction on pulmonary function tests (PFTs) should. An estimate placed the figure of confirmed serious AATD cases to be only around 10% of the actual total. 

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To encourage AATD testing, many strategies have been tested.

“Such strategies include offering free testing for AATD, including confidential home-based tests; issuing reminders to physicians on [PFT] reports when fixed airflow obstruction is detected; providing electronic prompts to test for AATD in the [EMR] of patients with COPD; and enabling respiratory therapists to encourage testing at the point of PFT testing when fixed airflow obstruction is detected,” the researchers wrote.

Read more about AATD patient education

Lam et al decided to test a novel detection method of their own. They conducted a study to assess the effectiveness of an EMR system in identifying and encouraging patients to undergo AATD testing that is free and home-based.

Selected participants (n=5430) were sent an electronic message being informed that they were being contacted because they were prescribed a medication indicated only for COPD. Information regarding guidelines for AATD testing was also offered. They were then given the opportunity to obtain free and home-based Alpha-1 Coded Testing (ACT) kits.

Of the 5430 patients who sent the electronic message, 396 (7.3%) responded by asking for an ACT kit. A total of 209 patients (3.8%) returned the ACT test kit for testing. Among the patients who returned their test kits, 65.5% had a normal genotype, 31.6% were heterozygous for an abnormal AAT allele, and 2.9% had a genotype associated with severe AATD. 

“In conclusion, this study has demonstrated that an electronic messaging program that targets patients receiving medications for COPD can enhance AATD testing and did lead to a high rate of detecting individuals with abnormal genotypes for AATD,” the authors wrote.

“These results invite further exploration of EMR-based strategies for detection of AATD and other conditions.” 


Lam SW, Strange C, Brantly ML, Stoller JK. A novel detection method to identify individuals with alpha-1 antitrypsin deficiency: linking prescription of COPD medications with the patient-facing electronic medical record. Chronic Obstr Pulm Dis. Published online November 16, 2021. doi:10.15326/jcopdf.2021.0260