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Machine Learning

Opportunities and obstacles for deep learning in biology and medicine

Travers H. Ching(University of Hawaiʻi at Mānoa), Daniel Himmelstein(University of Pennsylvania), Brett K. Beaulieu‐Jones(University of Pennsylvania), Alexandr A. Kalinin(University of Michigan), Brian T. Do(Harvard University), Gregory P. Way(University of Pennsylvania), Enrico Ferrero(GlaxoSmithKline (United Kingdom)), Paul‐Michael Agapow(Imperial College London), Michael Zietz(University of Pennsylvania), Michael M. Hoffman(University of Toronto), Wei Xie(Vanderbilt University), GAIL L. ROSEN(Drexel University), Benjamin J. Lengerich(Carnegie Mellon University), Johnny Israeli(Stanford University), Jack Lanchantin(University of Virginia), Stephen Woloszynek(Drexel University), Anne Elizabeth Carpenter(Broad Institute), Avanti Shrikumar(Stanford University), Jinbo Xu(Toyota Technological Institute at Chicago), Evan M. Cofer(Princeton University), Christopher A. Lavender(National Institutes of Health), Srinivas C. Turaga(Howard Hughes Medical Institute), Amr M. Alexandari(Stanford University), Zhiyong Lu(National Institutes of Health), David J. Harris(University of Florida), David DeCaprio, Yanjun Qi(University of Virginia), Anshul Bharat Kundaje(Stanford University), Yifan Peng(National Institutes of Health), Laura K. Wiley(University of Colorado Anschutz), Marwin Segler(University of Münster), Simina Maria Boca(Georgetown University), S. Joshua Swamidass(Washington University in St. Louis), Austin Huang(Brown University), Anthony Gitter(University of Wisconsin–Madison), Casey S. Greene(University of Pennsylvania)
April 1, 2018Journal of The Royal Society Interface2,294 citations

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Journal of The Royal Society Interface

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2018

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Abstract

Deep learning describes a class of machine learning algorithms that are capable of combining raw inputs into layers of intermediate features. These algorithms have recently shown impressive results across a variety of domains. Biology and medicine are data-rich disciplines, but the data are complex and often ill-understood. Hence, deep learning techniques may be particularly well suited to solve problems of these fields. We examine applications of deep learning to a variety of biomedical problems-patient classification, fundamental biological processes and treatment of patients-and discuss whether deep learning will be able to transform these tasks or if the biomedical sphere poses unique challenges. Following from an extensive literature review, we find that deep learning has yet to revolutionize biomedicine or definitively resolve any of the most pressing challenges in the field, but promising advances have been made on the prior state of the art. Even though improvements over previous baselines have been modest in general, the recent progress indicates that deep learning methods will provide valuable means for speeding up or aiding human investigation. Though progress has been made linking a specific neural network's prediction to input features, understanding how users should interpret these models to make testable hypotheses about the system under study remains an open challenge. Furthermore, the limited amount of labelled data for training presents problems in some domains, as do legal and privacy constraints on work with sensitive health records. Nonetheless, we foresee deep learning enabling changes at both bench and bedside with the potential to transform several areas of biology and medicine.

Analysis

Why This Paper Matters

Deep learning has transformed fields like computer vision and natural language processing, but its application to biology and medicine presents unique challenges. This paper, authored by a large consortium of researchers, provides a critical assessment of the state of deep learning in biomedicine as of 2018. With over 2,200 citations, it has become a landmark reference for practitioners seeking to understand both the promise and the pitfalls of applying deep learning to biomedical problems.

The paper matters because it tempers enthusiasm with evidence. While many have heralded deep learning as a revolutionary force in healthcare, Ching et al. find that progress has been more incremental. By systematically reviewing applications across patient classification, fundamental biological processes, and treatment, the authors identify where deep learning has made genuine advances and where obstacles remain. This balanced perspective is essential for guiding future research and investment.

Moreover, the paper highlights critical open challenges that are often overlooked in technical deep learning literature: the scarcity of labeled data in many biomedical domains, legal and privacy constraints on working with sensitive health records, and the difficulty of interpreting models to generate testable hypotheses. These insights are invaluable for AI practitioners transitioning into biomedicine.

Technical Contributions

  • Comprehensive taxonomy: The paper categorizes deep learning applications into three broad areas: patient classification, fundamental biological processes, and treatment of patients, providing a structured overview.
  • Critical evaluation: It assesses whether deep learning has truly transformed these tasks or if biomedical data poses unique challenges that limit its effectiveness.
  • Identification of obstacles: The authors pinpoint specific hurdles such as limited labeled data, privacy regulations, and interpretability issues.
  • Interpretability focus: They discuss progress in linking neural network predictions to input features but note that understanding how to use these models for hypothesis generation remains open.
  • Future outlook: The paper forecasts where deep learning is likely to have the most impact, emphasizing its role in augmenting human investigation.

Results

The paper's main finding is that deep learning has yet to revolutionize biomedicine or definitively resolve any of the most pressing challenges. Improvements over previous baselines have been modest in general, though recent progress indicates that deep learning methods will provide valuable means for speeding up or aiding human investigation. The authors note that while some advances have been made on the prior state of the art, the field is still in its early stages. They also emphasize that linking a specific neural network's prediction to input features has seen progress, but understanding how users should interpret these models to make testable hypotheses about the system under study remains an open challenge. Additionally, the limited amount of labeled data for training presents problems in some domains, as do legal and privacy constraints on work with sensitive health records.

Significance

The paper's significance lies in its role as a sobering yet hopeful guide for the field. It cautions against overhyping deep learning in biomedicine while acknowledging its potential to enable changes at both bench and bedside. By clearly articulating the obstacles, it directs attention to areas needing methodological innovation, such as semi-supervised learning, interpretability, and privacy-preserving techniques. For AI practitioners, it underscores the importance of domain-specific considerations and the need for collaborative efforts between computer scientists and biomedical researchers. As a highly cited review, it has shaped the discourse around deep learning in healthcare, influencing both research directions and funding priorities. Its balanced assessment continues to be relevant as the field progresses toward more mature applications.