Phenotyping, Precision Medicine, and Asthma

Mohan, Arjun; Lugogo, Njira L

doi:10.1055/s-0042-1750130

Cited by 3 publications

(2 citation statements)

References 127 publications

(213 reference statements)

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“…While the biologic heterogeneity of asthma is vast, few, if any, biomarkers or genotypes can currently be used to systematically profile all patients with asthma and predict ICS response [ 36 , 58 , 59 ]. Readily available electronic health record (EHR) data collected during clinical care offer a low-cost, reliable, and more holistic way to profile all patients [ 36 , 60 ].…”

Section: Introductionmentioning

confidence: 99%

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A Roadmap for Using Causal Inference and Machine Learning to Personalize Asthma Medication Selection

Nkoy,

Stone,

Zhang

et al. 2024

JMIR Med Inform

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Inhaled corticosteroid (ICS) is a mainstay treatment for controlling asthma and preventing exacerbations in patients with persistent asthma. Many types of ICS drugs are used, either alone or in combination with other controller medications. Despite the widespread use of ICSs, asthma control remains suboptimal in many people with asthma. Suboptimal control leads to recurrent exacerbations, causes frequent ER visits and inpatient stays, and is due to multiple factors. One such factor is the inappropriate ICS choice for the patient. While many interventions targeting other factors exist, less attention is given to inappropriate ICS choice. Asthma is a heterogeneous disease with variable underlying inflammations and biomarkers. Up to 50% of people with asthma exhibit some degree of resistance or insensitivity to certain ICSs due to genetic variations in ICS metabolizing enzymes, leading to variable responses to ICSs. Yet, ICS choice, especially in the primary care setting, is often not tailored to the patient’s characteristics. Instead, ICS choice is largely by trial and error and often dictated by insurance reimbursement, organizational prescribing policies, or cost, leading to a one-size-fits-all approach with many patients not achieving optimal control. There is a pressing need for a decision support tool that can predict an effective ICS at the point of care and guide providers to select the ICS that will most likely and quickly ease patient symptoms and improve asthma control. To date, no such tool exists. Predicting which patient will respond well to which ICS is the first step toward developing such a tool. However, no study has predicted ICS response, forming a gap. While the biologic heterogeneity of asthma is vast, few, if any, biomarkers and genotypes can be used to systematically profile all patients with asthma and predict ICS response. As endotyping or genotyping all patients is infeasible, readily available electronic health record data collected during clinical care offer a low-cost, reliable, and more holistic way to profile all patients. In this paper, we point out the need for developing a decision support tool to guide ICS selection and the gap in fulfilling the need. Then we outline an approach to close this gap via creating a machine learning model and applying causal inference to predict a patient’s ICS response in the next year based on the patient’s characteristics. The model uses electronic health record data to characterize all patients and extract patterns that could mirror endotype or genotype. This paper supplies a roadmap for future research, with the eventual goal of shifting asthma care from one-size-fits-all to personalized care, improve outcomes, and save health care resources.

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Section: Introductionmentioning

confidence: 99%

“…Yet, while machine learning has helped find various asthma profiles [65][66][67][68][69][70][71][72], no prior study has predicted ICS response. Also, prior studies are mostly from single centers with small sample sizes and have not moved the needle of precision treatment for asthma [58,60].…”

Section: Introductionmentioning

confidence: 99%

A Roadmap for Using Causal Inference and Machine Learning to Personalize Asthma Medication Selection

Nkoy,

Stone,

Zhang

et al. 2024

JMIR Med Inform

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Mild asthma: Lessons learned and remaining questions

Mohan¹,

Donohue²

2023

Respiratory Medicine

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A Roadmap for Using Causal Inference and Machine Learning to Personalize Asthma Medication Selection (Preprint)

Nkoy,

Stone,

Zhang

et al. 2024

Preprint

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UNSTRUCTURED Inhaled corticosteroid (ICS) is a mainstay treatment for controlling asthma and preventing exacerbations in patients with persistent asthma. Many types of ICS drugs are used, either alone or in combination with other controller medications. Despite the widespread use of ICSs, asthma control remains suboptimal in many people with asthma. Suboptimal control leads to recurrent exacerbations, causes frequent ER visits and inpatient stays, and is due to multiple factors. One such factor is the inappropriate ICS choice for the patient. While many interventions targeting other factors exist, less attention is given to inappropriate ICS choice. Asthma is a heterogeneous disease with variable underlying inflammations and biomarkers. Up to 50% of people with asthma exhibit some degree of resistance or insensitivity to certain ICSs due to genetic variations in ICS metabolizing enzymes, leading to variable responses to ICSs. Yet, ICS choice, especially in the primary care setting, is often not tailored to the patient’s characteristics. Instead, ICS choice is largely by trial and error and often dictated by insurance reimbursement, organizational prescribing policies, or cost, leading to a one-size-fits-all approach with many patients not achieving optimal control. There is a pressing need for a decision support tool that can predict an effective ICS at the point of care and guide providers to select the ICS that will most likely and quickly ease patient symptoms and improve asthma control. To date, no such tool exists. Predicting which patient will respond well to which ICS is the first step toward developing such a tool. However, no study has predicted ICS response, forming a gap. While the biologic heterogeneity of asthma is vast, few, if any, biomarkers and genotypes can be used to systematically profile all patients with asthma and predict ICS response. As endotyping or genotyping all patients is infeasible, readily available electronic health record data collected during clinical care offer a low-cost, reliable, and more holistic way to profile all patients. In this paper, we point out the need for developing a decision support tool to guide ICS selection and the gap in fulfilling the need. Then we outline an approach to close this gap via creating a machine learning model and applying causal inference to predict a patient’s ICS response in the next year based on the patient’s characteristics. The model uses electronic health record data to characterize all patients and extract patterns that could mirror endotype or genotype. This paper supplies a roadmap for future research, with the eventual goal of shifting asthma care from one-size-fits-all to personalized care, improve outcomes, and save health care resources.

show abstract

Phenotyping, Precision Medicine, and Asthma

Cited by 3 publications

References 127 publications

A Roadmap for Using Causal Inference and Machine Learning to Personalize Asthma Medication Selection

A Roadmap for Using Causal Inference and Machine Learning to Personalize Asthma Medication Selection

Mild asthma: Lessons learned and remaining questions

A Roadmap for Using Causal Inference and Machine Learning to Personalize Asthma Medication Selection (Preprint)

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