Improving Screening for Alpha-1 Antitrypsin Deficiency with Direct Testing in the Pulmonary Function Testing Laboratory

Abstract

Alpha-1 Antitrypsin Deficiency (AATD) is a common but highly underdiagnosed genetic disorder that may lead to Chronic Obstructive Pulmonary Disease (COPD), bronchiectasis, and liver disease. Early diagnosis is key to altering the course of disease as well as of informing family members of potential risk. This randomized prospective observational study compares the different testing modalities for AATD testing of at risk patients initiated in the Pulmonary Function Testing (PFT) laboratory. Providing a recommendation with prescription for serologic testing, providing a finger-stick testing method (AlphaKit), and provided a buccal swab testing method (AlphaID) were compared to the community standard of referring the patient back to the PFT ordering provider only. Results show that testing directly in the PFT laboratory has an Odds Ratio (OR) for completing testing of 35.14 (5.33 - 999.99), p-value of <0.0001, for buccal swab testing and an OR of 17.09 (2.58 - 729.99), p-value of 0.0002, for finger-stick testing compared to community standard. Providing a prescription was no better than referral back to the PFT ordering provider with OR of 2.61(0.33 - 119.36), p-value of 0.6412. Resources needed to perform testing by Respiratory Therapy were minimal with average time of 1 to 5 minutes per patient tested. Causes of testing refusal were also identified. In conclusion, direct testing for AATD by respiratory therapists at the conclusion of PFT testing shows a significant improvement in rates of testing, especially with testing that utilizes buccal swab sample collection.