Utilising artificial intelligence to determine patients at risk of a rare disease: idiopathic pulmonary arterial hypertension
Author(s)
Type
Journal Article
Abstract
Idiopathic pulmonary arterial hypertension is a rare and life-shortening condition often diagnosed at an advanced stage. Despite increased awareness, the delay to diagnosis remains unchanged. This study explores whether a predictive model based on healthcare resource utilisation can be used to screen large populations to identify patients at high risk of idiopathic pulmonary arterial hypertension. Hospital Episode Statistics from the National Health Service in England, providing close to full national coverage, were used as a measure of healthcare resource utilisation. Data for patients with idiopathic pulmonary arterial hypertension from the National Pulmonary Hypertension Service in Sheffield were linked to pre-diagnosis Hospital Episode Statistics records. A non-idiopathic pulmonary arterial hypertension control cohort was selected from the Hospital Episode Statistics population. Patient history was limited to ≤5 years pre-diagnosis. Information on demographics, timing/frequency of diagnoses, medical specialities visited and procedures undertaken was captured. For modelling, a bagged gradient boosting trees algorithm was used to discriminate between cohorts. Between 2008 and 2016, 709 patients with idiopathic pulmonary arterial hypertension were identified and compared with a stratified cohort of 2,812,458 patients classified as non-idiopathic pulmonary arterial hypertension with ≥1 ICD-10 coded diagnosis of relevance to idiopathic pulmonary arterial hypertension. A predictive model was developed and validated using cross-validation. The timing and frequency of the clinical speciality seen, secondary diagnoses and age were key variables driving the algorithm’s performance. To identify the 100 patients at highest risk of idiopathic pulmonary arterial hypertension, 969 patients would need to be screened with a specificity of 99.99% and sensitivity of 14.10% based on a prevalence of 5.5/million. The positive predictive and negative predictive values were 10.32% and 99.99%, respectively. This study highlights the potential application of artificial intelligence to readily available real-world data to screen for rare diseases such as idiopathic pulmonary arterial hypertension. This algorithm could provide low-cost screening at a population level, facilitating earlier diagnosis, improved diagnostic rates and patient outcomes. Studies to further validate this approach are warranted.
Date Issued
2019-10
Date Acceptance
2019-10-20
Citation
Pulmonary Circulation, 2019, 9 (4), pp.1-9
ISSN
2045-8932
Publisher
Wiley
Start Page
1
End Page
9
Journal / Book Title
Pulmonary Circulation
Volume
9
Issue
4
Copyright Statement
© The Author(s) Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative
Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which
permits non-commercial use, reproduction and distribution of the work without further permission provided the original
work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage)
Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which
permits non-commercial use, reproduction and distribution of the work without further permission provided the original
work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage)
License URL
Identifier
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000498540800001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=a2bf6146997ec60c407a63945d4e92bb
Subjects
Cardiac & Cardiovascular Systems
Cardiovascular System & Cardiology
diagnosis
DIAGNOSIS
idiopathic pulmonary arterial hypertension (PAH)
Life Sciences & Biomedicine
machine learning
predictive algorithm
Respiratory System
Science & Technology
SURVIVAL
SYSTEMIC-SCLEROSIS
Publication Status
Published
Date Publish Online
2019-11-01