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Overcoming Racial and Ethnic Biases in the Diagnosis of Patients With Alpha-1 Antitrypsin Deficiency in the United States Using a Machine-Learning Model. The Objective: To develop a prediction model to identify symptomatic patients of different races and ethnicities with likely risk of AATD using claims data from a large US database. Implicit and explicit biases are among many factors that contribute to disparities in health and health care. (Tackling Implicit Bias in Health Care Published July 9, 2022 N Engl J Med 2022;387:105-107 DOI: 10.1056/NEJMp2201180 ) In partnership with Takeda, we took to designing a machine learning process to find likely candidates and overcome racial biases in the detection of this disease that may result in serious lung or liver disease. AATD is largely underdiagnosed, with an estimated prevalence of 100,000 individuals with AATD in the US; however, fewer than 10,000 individuals are diagnosed (Ashenhurst JR, et al. Chest. 2022;161(2):373-381.) Previously, AATD was thought to affect only White individuals of European descent. Recent studies have shown that people of different races and ethnicities have genotypes consistent with those with moderate-to-severe AATD-related lung disease. (Quinn M, et al. Ther Clin Risk Manag. 2020;16:1243-1255. de Serres FJ, Blanco I. Ther Adv Respir Dis. 2012;6(5):277-295.) The Process: Data from the Komodo Health US claims database (April 26, 2016 to January 31, 2023) were divided into “positive,” “negative,” and “target” cohorts. A machine-learning model for detecting AATD was trained on positive and negative cohorts without using codes revealing AATD diagnosis and treatment.The learned model was applied to the target cohort to flag patients with likely undiagnosed AATD. Results: This approach produced a highly performant prediction model capable of detecting undiagnosed people living with AATD, validated by expert clinicians. (For a deeper look at how this unique ML process could be applied to other indications, please message us directly.)

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