Comparison of clinical geneticist and computer visual attention in assessing genetic conditions.

Journal: PLoS genetics
PMID:

Abstract

Artificial intelligence (AI) for facial diagnostics is increasingly used in the genetics clinic to evaluate patients with potential genetic conditions. Current approaches focus on one type of AI called Deep Learning (DL). While DL- based facial diagnostic platforms have a high accuracy rate for many conditions, less is understood about how this technology assesses and classifies (categorizes) images, and how this compares to humans. To compare human and computer attention, we performed eye-tracking analyses of geneticist clinicians (n = 22) and non-clinicians (n = 22) who viewed images of people with 10 different genetic conditions, as well as images of unaffected individuals. We calculated the Intersection-over-Union (IoU) and Kullback-Leibler divergence (KL) to compare the visual attentions of the two participant groups, and then the clinician group against the saliency maps of our deep learning classifier. We found that human visual attention differs greatly from DL model's saliency results. Averaging over all the test images, IoU and KL metric for the successful (accurate) clinician visual attentions versus the saliency maps were 0.15 and 11.15, respectively. Individuals also tend to have a specific pattern of image inspection, and clinicians demonstrate different visual attention patterns than non-clinicians (IoU and KL of clinicians versus non-clinicians were 0.47 and 2.73, respectively). This study shows that humans (at different levels of expertise) and a computer vision model examine images differently. Understanding these differences can improve the design and use of AI tools, and lead to more meaningful interactions between clinicians and AI technologies.

Authors

  • Dat Duong
  • Anna Rose Johny
    Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
  • Suzanna Ledgister Hanchard
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America.
  • Christopher Fortney
    Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America.
  • Kendall Flaharty
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America.
  • Fabio Hellmann
  • Ping Hu
    Division of Cancer Prevention, National Cancer Institute, Canada.
  • Behnam Javanmardi
    Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
  • Shahida Moosa
    Division of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Tygerberg, South Africa.
  • Tanviben Patel
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America.
  • Susan Persky
    Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America.
  • Ömer Sümer
    Chair for Human-Centered Artificial Intelligence, University of Augsburg, Augsburg, Germany.
  • Cedrik Tekendo-Ngongang
    Medical Genomics Unit, National Human Genome Research Institute, Bethesda, MD.
  • Hellen Lesmann
    Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
  • Tzung-Chien Hsieh
    Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
  • Rebekah L Waikel
  • Elisabeth André
    Faculty of Applied Computer Science, Institute of Computer Science, Universität Augsburg, Augsburg, Germany.
  • Peter Krawitz
    Institute for Genomic Statistics and Bioinformatics, University Bonn, Bonn, Germany.
  • Benjamin D Solomon