Opportunities for incorporating intersectionality into biomedical informatics.

Many approaches in biomedical informatics (BMI) rely on the ability to define, gather, and manipulate biomedical data to support health through a cyclical research-practice lifecycle. Researchers within this field are often fortunate to work closely with healthcare and public health systems to influence data generation and capture and have access to a vast amount of biomedical data. Many informaticists also have the expertise to engage with stakeholders, develop new methods and applications, and influence policy. However, research and policy that explicitly seeks to address the systemic drivers of health would more effectively support health. Intersectionality is a theoretical framework that can facilitate such research. It holds that individual human experiences reflect larger socio-structural level systems of privilege and oppression, and cannot be truly understood if these systems are examined in isolation. Intersectionality explicitly accounts for the interrelated nature of systems of privilege and oppression, providing a lens through which to examine and challenge inequities. In this paper, we propose intersectionality as an intervention into how we conduct BMI research. We begin by discussing intersectionality's history and core principles as they apply to BMI. We then elaborate on the potential for intersectionality to stimulate BMI research. Specifically, we posit that our efforts in BMI to improve health should address intersectionality's five key considerations: (1) systems of privilege and oppression that shape health; (2) the interrelated nature of upstream health drivers; (3) the nuances of health outcomes within groups; (4) the problematic and power-laden nature of categories that we assign to people in research and in society; and (5) research to inform and support social change.

A scoping review of ethics considerations in clinical natural language processing.

Objectives: To review through an ethics lens the state of research in clinical natural language processing (NLP) for the study of bias and fairness, and to identify gaps in research. Methods: We queried PubMed and Google Scholar for articles published between 2015 and 2021 concerning clinical NLP, bias, and fairness. We analyzed articles using a framework that combines the machine learning (ML) development process (ie, design, data, algorithm, and critique) and bioethical concepts of beneficence, nonmaleficence, autonomy, justice, as well as explicability. Our approach further differentiated between biases of clinical text (eg, systemic or personal biases in clinical documentation towards patients) and biases in NLP applications. Results: Out of 1162 articles screened, 22 met criteria for full text review. We categorized articles based on the design (N = 2), data (N = 12), algorithm (N = 14), and critique (N = 17) phases of the ML development process. Discussion: Clinical NLP can be used to study bias in applications reliant on clinical text data as well as explore biases in the healthcare setting. We identify 3 areas of active research that require unique ethical considerations about the potential for clinical NLP to address and/or perpetuate bias: (1) selecting metrics that interrogate bias in models; (2) opportunities and risks of identifying sensitive patient attributes; and (3) best practices in reconciling individual autonomy, leveraging patient data, and inferring and manipulating sensitive information of subgroups. Finally, we address the limitations of current ethical frameworks to fully address concerns of justice. Clinical NLP is a rapidly advancing field, and assessing current approaches against ethical considerations can help the discipline use clinical NLP to explore both healthcare biases and equitable NLP applications.

Predicting Phenotypic Polymyxin Resistance in Klebsiella pneumoniae through Machine Learning Analysis of Genomic Data.

Polymyxins are used as treatments of last resort for Gram-negative bacterial infections. Their increased use has led to concerns about emerging polymyxin resistance (PR). Phenotypic polymyxin susceptibility testing is resource intensive and difficult to perform accurately. The complex polygenic nature of PR and our incomplete understanding of its genetic basis make it difficult to predict PR using detection of resistance determinants. We therefore applied machine learning (ML) to whole-genome sequencing data from >600 Klebsiella pneumoniae clonal group 258 (CG258) genomes to predict phenotypic PR. Using a reference-based representation of genomic data with ML outperformed a rule-based approach that detected variants in known PR genes (area under receiver-operator curve [AUROC], 0.894 versus 0.791, P = 0.006). We noted modest increases in performance by using a bacterial genome-wide association study to filter relevant genomic features and by integrating clinical data in the form of prior polymyxin exposure. Conversely, reference-free representation of genomic data as k-mers was associated with decreased performance (AUROC, 0.692 versus 0.894, P = 0.015). When ML models were interpreted to extract genomic features, six of seven known PR genes were correctly identified by models without prior programming and several genes involved in stress responses and maintenance of the cell membrane were identified as potential novel determinants of PR. These findings are a proof of concept that whole-genome sequencing data can accurately predict PR in K. pneumoniae CG258 and may be applicable to other forms of complex antimicrobial resistance.IMPORTANCE Polymyxins are last-resort antibiotics used to treat highly resistant Gram-negative bacteria. There are increasing reports of polymyxin resistance emerging, raising concerns of a postantibiotic era. Polymyxin resistance is therefore a significant public health threat, but current phenotypic methods for detection are difficult and time-consuming to perform. There have been increasing efforts to use whole-genome sequencing for detection of antibiotic resistance, but this has been difficult to apply to polymyxin resistance because of its complex polygenic nature. The significance of our research is that we successfully applied machine learning methods to predict polymyxin resistance in Klebsiella pneumoniae clonal group 258, a common health care-associated and multidrug-resistant pathogen. Our findings highlight that machine learning can be successfully applied even in complex forms of antibiotic resistance and represent a significant contribution to the literature that could be used to predict resistance in other bacteria and to other antibiotics.