PMID- 34784453
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220430
IS  - 2372-952X (Print)
IS  - 2372-952X (Electronic)
IS  - 2372-952X (Linking)
VI  - 9
IP  - 1
DP  - 2022 Jan 27
TI  - A Novel Detection Method to Identify Individuals with Alpha-1 Antitrypsin 
      Deficiency: Linking Prescription of COPD Medications with the Patient-Facing 
      Electronic Medical Record.
PG  - 26-33
LID - 10.15326/jcopdf.2021.0260 [doi]
AB  - BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is under-recognized, prompting 
      the need for enhanced detection strategies. The primary aim of this study is to 
      determine the feasibility of using the electronic medical record (EMR) and linked 
      electronic patient messages (EPM) to encourage AATD testing by patients with 
      chronic obstructive pulmonary disease (COPD). METHODS: Study participants were 
      eligible, untested adult patients who were prescribed an inhaled medication which 
      is exclusively Food and Drug Administration-approved for treating COPD. Eligible 
      patients received a message with basic information about AATD and availability of 
      free, home-based AATD testing. Through a collaboration with the Alpha-1 
      Foundation's Alpha-1 Coded Testing (ACT) study, patients referred to home-based 
      testing through EPM were flagged. The effectiveness of the electronic message was 
      evaluated by the proportion of patients who underwent testing, and the rate of 
      detecting individuals with severe deficiency of AAT among those tested. RESULTS: 
      A total of 12,369 patients on eligible inhalers were screened; 5430 patients met 
      all criteria and received an EPM. During the study, 396 patients (7.3%) fully 
      requested an ACT kit. Of these, 209 patients (52.8%) returned the test sample and 
      received genotyping results; 65.5%, had a normal AAT genotype (PI*MM), 31.6% were 
      heterozygotes for a deficient allele (PI*MS, PI*MZ and PI*M/Null rare), and 2.9% 
      had severe deficiency of alpha-1 antitrypsin (PI*SZ, PI*ZZ, PI*S/Null rare). 
      CONCLUSIONS: While the response rate and test return rate were low, the rate of 
      detecting individuals with AATD using this detection strategy exceeds that of 
      many prior strategies. As such, while requiring independent validation in other 
      populations, this detection strategy holds promise.
CI  - JCOPDF (c) 2021.
FAU - Lam, Simon W
AU  - Lam SW
AD  - Department of Pharmacy, Cleveland Clinic, Cleveland, Ohio, United States.
FAU - Strange, Charlie
AU  - Strange C
AD  - Division of Pulmonary and Critical Care Medicine, Medical University of South 
      Carolina, Charleston, South Carolina, United States.
FAU - Brantly, Mark L
AU  - Brantly ML
AD  - Division of Pulmonary, Critical Care and Sleep Medicine, University of Florida, 
      Gainesville, Florida, United States.
FAU - Stoller, James K
AU  - Stoller JK
AD  - Education and Respiratory Institute, Cleveland Clinic, Cleveland, Ohio, United 
      States.
LA  - eng
GR  - Alpha-1 Foundation/United States
PT  - Journal Article
PL  - United States
TA  - Chronic Obstr Pulm Dis
JT  - Chronic obstructive pulmonary diseases (Miami, Fla.)
JID - 101635411
PMC - PMC8893965
OTO - NOTNLM
OT  - alpha-1 antitrypsin deficiency
OT  - detection
OT  - electronic medical record
COIS- SWL and MLB have nothing to disclose. JKS serves on the Board of Directors of the 
      Alpha-1 Foundation. JKS also serves as a consultant to: Grifols, Vertex, CSL 
      Behring, Takeda, 23andMe, InhibRx, Insmed, 4DMT, Korro, and Bridgebio. CS had 
      AATD research monies paid to his university during the tenure of this study from 
      the Alpha-1 Foundation, Adverum, AstraZeneca, CSL Behring, Grifols, MatRx, 
      Takeda, and Vertex. He consulted for AstraZeneca, Dicerna, GlaxoSmithKline, and 
      Vertex. CS is an employee of AlphaNet.
EDAT- 2021/11/17 06:00
MHDA- 2021/11/17 06:01
PMCR- 2021/11/16
CRDT- 2021/11/16 17:20
PHST- 2021/11/17 06:00 [pubmed]
PHST- 2021/11/17 06:01 [medline]
PHST- 2021/11/16 17:20 [entrez]
PHST- 2021/11/16 00:00 [pmc-release]
AID - 10.15326/jcopdf.2021.0260 [doi]
PST - ppublish
SO  - Chronic Obstr Pulm Dis. 2022 Jan 27;9(1):26-33. doi: 10.15326/jcopdf.2021.0260.