Recent Advances in Personalized Precision Medicine Research

Wei Jin Chair
Johns Hopkins University
 
Monday, Aug 4: 2:00 PM - 3:50 PM
4073 
Contributed Papers 
Music City Center 
Room: CC-212 
This session will highlight latest advancements in personalized precision medicine research as applied to EHR data sources, SMART data, or multi omics.

Main Sponsor

Biometrics Section

Presentations

A Marginal Structural Model for Partial Compliance in SMARTs

The cyclical and heterogeneous nature of many substance use disorders highlights the need to adapt
the type and/or the dose of treatment to accommodate the specific and changing needs of individuals. The Adaptive Treatment for Alcohol and Cocaine Dependence study (ENGAGE) is a sequential multiple assignment randomized trial (SMART) that aimed to construct dynamic treatment regimes (DTRs) to improve patients' engagement in therapy. However, the high rate of noncompliance and lack of analytic tools to account for noncompliance has impeded researchers from using the data to construct individually tailored DTRs. We overcome this issue by defining our target parameter as the mean outcome under different DTRs for given potential compliance strata and propose a marginal structural model with principal stratification to estimate this quantity. We model the latent principal strata using a Bayesian semiparametric approach. An important feature of our work is that we consider partial rather than binary compliance strata which is more relevant in longitudinal studies. We assess the performance of our method through simulation and application to the ENGAGE study. 

Keywords

Dynamic treatment regime

Non-parametric Bayes

Partial compliance

Principal stratification

Marginal structural models 

Co-Author(s)

Indrabati Bhattacharya, Florida State University
Ashkan Ertefaie, University of Pennsylvania
Kevin Lynch, University of Pennsylvania
James McKay, University of Pennsylvania
Brent Johnson, University of Rochester-Medical Center

First Author

William Artman, University of Rochester

Presenting Author

Indrabati Bhattacharya, Florida State University

Backward Bayesian Outcome Weighted Learning

A central objective of precision medicine is learning optimal dynamic treatment regimes (DTRs) from data. Classification-based methods, like outcome weighted learning (OWL) for single-stage and backward OWL (BOWL) for multi-stage problems, leverage machine learning to directly learn optimal DTRs. However, these methods lack a natural way to quantify uncertainty and only use the data from patients whose actual treatment paths align with the optimal decision rule. In this paper, we extend Bayesian OWL – a Bayesian reformulation of OWL – to the multi-stage setting. We call this method backward Bayesian outcome weighted learning (BBOWL). Like BOWL, our method directly learns an optimal DTR via backward induction, and unlike existing methods, our approach propagates uncertainty backward through the DTR-learning process and provides uncertainty quantification of individualized treatment recommendations. Furthermore, our approach leverages the full information contained in the observed data. We present theoretical guarantees of BBOWL and verify its performance via both simulation studies and case study data. 

Keywords

Precision medicine

dynamic treatment regimes

Bayesian statistics 

Co-Author(s)

Nikki Freeman, Duke University
Michael Kosorok, University of North Carolina at Chapel Hill

First Author

Emmanuel Rockwell

Presenting Author

Emmanuel Rockwell

Debiased EHR Embeddings for Individualized Treatment Effect Estimation in Precision Medicine

Leveraging real-world electronic health records (EHR) for precision medicine requires robust modeling of patient heterogeneity and treatment effects while mitigating biases inherent in observational data. We introduce a novel framework for learning rich, contextualized, and debiased EHR embeddings that enable individualized counterfactual outcome prediction and precise estimation of individualized treatment effects (ITE). Our approach integrates adversarial debiasing and negative control strategies to correct for confounding while preserving patient-specific contextual information. We demonstrate its utility in optimizing the use of GLP-1 receptor agonists (GLP-1RAs), identifying patients who would benefit but are currently untreated, and detecting those receiving treatment despite being suboptimal candidates for heart failure and mental health outcomes. This method provides a robust foundation for precision medicine, ensuring treatment decisions are data-driven, patient-specific, and causally robust. 

Keywords

Counterfactual Outcome Prediction


Negative control outcomes

Precision Medicine


Real-World Evidence


electronic health records

Individualized Treatment Effect (ITE) 

Co-Author(s)

Yiwen Lu
Yong Chen, University of Pennsylvania, Perelman School of Medicine

First Author

Lu Li

Presenting Author

Lu Li

Dynamic treatment regimes via smooth surrogate loss for arbitrary number of treatments per stage

During chronic disease treatments (e.g., cancer, sepsis, diabetes), patients often receive repeated treatments. Our aim is to learn the best sequence of treatments, also called the dynamic treatment regimes, using already available patient data. When only two treatment options are available, DTR learning reduces to sequential weighted binary classification. In general, when the number of treatments are greater than two, DTR learning reduces to a sequence of weighted multi-class classification problems. In this paper, we characterize a class of smooth surrogate loss for these multi-class classification problems, and show that our surrogate loss is Fisher consistent for arbitrary number of treatment options per stage. We show that the proposed surrogate loss enjoys some interesting properties such as Fisher consistency among the class of linear policies as well. However, the surrogates being non-convex, DTR learning transforms into a non-convex but smooth optimization problem. We develop an appropriate algorithm for solving the non-convex optimization problem, and provide guarantees on the convergence to global optimum under some curvature-type conditions. 

Keywords

Dynamic Treatment Regimes

Sequential Decision-Making and Policy Learning

Surrogate Losses

Non-Convex Optimization

Fisher Consistency

Weighted Multi-class Classification 

Co-Author

Nilson Chapagain, Texas A&M University

First Author

Nilanjana Laha, Texas A&M University

Presenting Author

Nilson Chapagain, Texas A&M University

Evaluating and Testing for Actionable Treatment Effect Heterogeneity

Developing tools for estimating heterogeneous treatment effects (HTE) has been an area of active research in recent years. While these tools have proven to be useful in many contexts, a concern when deploying such methods is the degree to which incorporating HTE into a prediction model provides an advantage over methods which do not allow for treatment effect variation. To address this, we propose a procedure which evaluates the extent to which an HTE model provides a predictive advantage by targeting the gain in predictive performance from using a flexible predictive model incorporating HTE versus a similar alternative model which that is constrained to not allow variation in treatment effect. By drawing upon recent work on nested cross-validation techniques for prediction error inference, we generate confidence intervals for this measure of gain in predictive performance which allows one to calculate the level at which one is confident
of a substantial HTE-modeling gain in prediction - a quantity which we refer to as the h-value. Our procedure is generic and can be used to assess the benefit of modeling HTE for any method that incorporates treatment effect variation. 

Keywords

interaction

model comparison

precision medicine

resampling 

Co-Author

Mahsa Ashouri, Miami University

First Author

Nicholas Henderson

Presenting Author

Nicholas Henderson

Time-Varying Treatment Effect Estimation With Irregular Patient Visit Data

Estimating time-varying treatment effects is essential for guiding clinical decisions, particularly in chronic disease management. However, applying existing causal inference methods to observational data, such as electronic health records (EHR), is challenging due to irregular patient visit patterns. A common approach uses multiple imputation to fill in missing data before applying causal methods, but this increases modeling complexity and may be inefficient. We proposed a sequential analysis using a Bayesian additive regression trees (BART) model that directly accommodates irregular visit patterns, allowing the visit mechanism to depend on unobserved data. Our method also handles treatment heterogeneity, enabling more accurate effect estimation for individualized treatment decisions. Through simulation studies, we show that our approach significantly improves estimation compared to standard two-step practices relying on multiple imputation. We illustrate its use with EHR data from a juvenile idiopathic arthritis study. 

Keywords

Time-varying treatment effects

Irregular longitudinal data

Multiple imputation

Bayesian additive regression trees 

Co-Author(s)

Bin Zhang, Cincinnati Children’s Hospital Medical Center
Bin Huang, Cincinnati Children's Medical Center
Hang Joon Kim, University of Cincinnati

First Author

Yuan Zhou

Presenting Author

Yuan Zhou

Variable selection in joint modeling of skewed longitudinal data and discrete failure time data

Joint modeling of longitudinal data and survival data has gained great attention over the last few decades. We study joint analysis of skewed longitudinal data and discrete failure time data, and conduct grouped variable selection in this framework. A joint model is proposed with a shared frailty to characterize the dependence between the two types of responses, where the longitudinal response is modeled with a log-normal mixed-effects submodel and the survival time is modeled with a complementary log-log submodel. Penalized likelihood-based approaches are developed to simultaneously select significant covariates and estimate their effects on the two types of responses. A Monte Carlo EM (MCEM) method is used for the implantation. Our simulation study shows that these methods perform well in both variable selection and parameter estimation. A real-life data application to the LIFE study is provided as an illustration. 

Keywords

joint modeling

Skewed longitudinal data

discrete failure time data

grouped variable selection



Monte Carlo EM 

Co-Author

Rajeshwari Sundaram, National Institute of Child Health and Human Development

First Author

Yuchen Mao

Presenting Author

Yuchen Mao