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

PLoS Genet. 2024 Feb 27;20(2):e1011168. doi: 10.1371/journal.pgen.1011168. eCollection 2024 Feb.

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.

MeSH terms

  • Artificial Intelligence*
  • Computer Simulation
  • Computers*
  • Humans

Grants and funding

This research was supported in part by the Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health. This funding supported authors who are NHGRI staff, and includes salary support and research expenses (these authors: DD, SLH, CF, KF, PH, TP, SP, CT-N, RLW, BDS). There is no specific grant number for this intramural funding. See: https://www.genome.gov/about-nhgri/Division-of-Intramural-Research. The funder did not play any role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript.