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Equitable machine learning counteracts ancestral bias in precision medicine, improving outcomes for all.

ABSTRACT: Gold standard genomic datasets severely under-represent non-European populations, leading to inequities and a limited understanding of human disease [1-8]. Therapeutics and outcomes remain hidden because we lack insights that we could gain from analyzing ancestry-unbiased genomic data. To address this significant gap, we present PhyloFrame, the first-ever machine learning method for equitable genomic precision medicine. PhyloFrame corrects for ancestral bias by integrating big data tissue-specific functional interaction networks, global population variation data, and disease-relevant transcriptomic data. Application of PhyloFrame to breast, thyroid, and uterine cancers shows marked improvements in predictive power across all ancestries, less model overfitting, and a higher likelihood of identifying known cancer-related genes. The ability to provide accurate predictions for underrepresented groups, in particular, is substantially increased. These results demonstrate how AI can mitigate ancestral bias in training data and contribute to equitable representation in medical research.

SUBMITTER: Graim K

PROVIDER: S-EPMC10402189 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature

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Equitable machine learning counteracts ancestral bias in precision medicine, improving outcomes for all.

Smith Leslie A LA Cahill James A JA Graim Kiley K

Research square 20230727

Gold standard genomic datasets severely under-represent non-European populations, leading to inequities and a limited understanding of human disease [1-8]. Therapeutics and outcomes remain hidden because we lack insights that we could gain from analyzing ancestry-unbiased genomic data. To address this significant gap, we present PhyloFrame, the first-ever machine learning method for equitable genomic precision medicine. PhyloFrame corrects for ancestral bias by integrating big data tissue-specif ...[more]

PMID: 37546907

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Project description:Chronic kidney disease (CKD) is a significant global health challenge that requires timely detection and accurate prognosis for effective treatment and management. The application of machine learning (ML) algorithms for CKD detection and prediction holds promising potential for improving patient outcomes. By incorporating key features which contribute to CKD, these algorithms enhance our ability to identify high-risk individuals and initiate timely interventions. This research highlights the importance of leveraging machine learning techniques to augment existing medical knowledge and improve the identification and management of kidney disease. In this paper, we explore the utilization of diverse ML algorithms, including gradient boost (GB), decision tree (DT), K-nearest neighbor (KNN), random forest (RF), histogram boost (HB), and XGBoost (XGB) to detect and predict chronic kidney disease (CKD). The aim is to improve early detection and prognosis, enhancing patient outcomes and reducing the burden on healthcare systems. We evaluated the performance of the ML algorithms using key metrics like accuracy, precision, recall, and F1 score. Additionally, we conducted feature significance analysis to identify the most influential characteristics in the detection and prediction of kidney disease. The dataset used for training and evaluation contained various clinical and demographic attributes of patients, including serum creatinine level, blood pressure, and age, among others. The proficiency analysis of the ML algorithms revealed consistent predictors across all models, with serum creatinine level, blood pressure, and age emerging as particularly effective in identifying individuals at risk of kidney disease. These findings align with established medical knowledge and emphasize the pivotal role of these attributes in early detection and prognosis. In conclusion, our study demonstrates the effectiveness of diverse machine learning algorithms in detecting and predicting kidney disease. The identification of influential predictors, such as serum creatinine level, blood pressure, and age, underscores their significance in early detection and prognosis. By leveraging machine learning techniques, we can enhance the accuracy and efficiency of kidney disease diagnosis and treatment, ultimately improving patient outcomes and healthcare system effectiveness.

Dataset Information

Equitable machine learning counteracts ancestral bias in precision medicine, improving outcomes for all.

Publications

Equitable machine learning counteracts ancestral bias in precision medicine, improving outcomes for all.

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