Opportunities and obstacles for deep learning in biology and medicine.

Journal: Journal of the Royal Society, Interface
Published Date:

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.

Authors

  • Travers Ching
    Molecular Biosciences and Bioengineering Graduate Program, University of Hawaii at Manoa, Honolulu, HI, United States of America.
  • Daniel S Himmelstein
    Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Brett K Beaulieu-Jones
    Graduate Group in Genomics and Computational Biology, Perelman School of Medicine, University of Pennsylvania, United States; Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, United States. Electronic address: brettbe@med.upenn.edu.
  • Alexandr A Kalinin
    Department of Computational Medicine & Bioinformatics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
  • Brian T Do
    Harvard Medical School, Boston, MA, USA.
  • Gregory P Way
    Genomics and Computational Biology Graduate Program, University of Pennsylvania, Philadelphia, PA, USA.
  • Enrico Ferrero
    Computational Biology and Stats, Target Sciences, GlaxoSmithKline, Stevenage, UK.
  • Paul-Michael Agapow
    Data Science Institute, Imperial College London, London, UK.
  • Michael Zietz
    Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Michael M Hoffman
    Princess Margaret Cancer Centre, Toronto, Ontario, Canada.
  • Wei Xie
    Department of Electrical Engineering & Computer Science, Vanderbilt University, Nashville, TN 37232, United States of America.
  • Gail L Rosen
    Ecological and Evolutionary Signal-processing and Informatics Laboratory, Department of Electrical and Computer Engineering, Drexel University, Philadelphia, PA, USA.
  • Benjamin J Lengerich
    Massachusetts Institute of Technology, Cambridge, MA USA.
  • Johnny Israeli
    Biophysics Program, Stanford University, Stanford, CA, USA.
  • Jack Lanchantin
  • Stephen Woloszynek
    Ecological and Evolutionary Signal-processing and Informatics Laboratory, Department of Electrical and Computer Engineering, Drexel University, Philadelphia, PA, USA.
  • Anne E Carpenter
    The Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, United States. Electronic address: anne@broadinstitute.org.
  • Avanti Shrikumar
    Department of Computer Science, Stanford University, Stanford, CA, USA.
  • Jinbo Xu
    Toyota Technological Institute at Chicago, Chicago, IL 60615, USA.
  • Evan M Cofer
    Department of Computer Science, Trinity University, San Antonio, TX, USA.
  • Christopher A Lavender
    Integrative Bioinformatics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA.
  • Srinivas C Turaga
    Howard Hughes Medical Institute, Janelia Research Campus, Ashburn, VA, USA.
  • Amr M Alexandari
    Department of Computer Science, Stanford University, Stanford, CA, USA.
  • Zhiyong Lu
    National Center for Biotechnology Information, Bethesda, MD 20894 USA.
  • David J Harris
    Department of Wildlife Ecology and Conservation, University of Florida, Gainesville, FL, USA.
  • Dave DeCaprio
    ClosedLoop.ai, Austin, TX, USA.
  • Yanjun Qi
  • Anshul Kundaje
    Department of Computer Science, Stanford University, Stanford, CA, USA.
  • Yifan Peng
    Department of Population Health Sciences, Weill Cornell Medicine, New York, USA.
  • Laura K Wiley
    Division of Biomedical Informatics and Personalized Medicine, University of Colorado School of Medicine, Aurora, CO, USA.
  • Marwin H S Segler
    Institute of Organic Chemistry and Center for Multiscale Theory and Computation, Westfälische Wilhelms-Universität, Münster, Germany.
  • Simina M Boca
    Innovation Center for Biomedical Informatics, Georgetown University Medical Center, Washington, DC, USA.
  • S Joshua Swamidass
    Department of Computer Science and Engineering, McKelvey School of Engineering, Washington University in St. Louis, St. Louis, Missouri.
  • Austin Huang
    Department of Medicine, Brown University, Providence, RI, USA.
  • Anthony Gitter
    Department of Biostatistics and Medical Informatics, University of Wisconsin-Madison, Madison, WI, USA gitter@biostat.wisc.edu.
  • Casey S Greene
    Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, United States; Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, United States; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, Perelman School of Medicine, University of Pennsylvania, United States. Electronic address: csgreene@upenn.edu.