Stellenbosch University

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

posted on 2024-04-17, 10:13 authored by Dat Duong, Anna Rose Johny, Suzanna Ledgister Hanchard, Christopher Fortney, Kendall Flaharty, Fabio Hellmann, Ping Hu, Behnam Javanmardi, Shahida Moosa, Tanviben Patel, Susan Persky, Ömer Sümer, Cedrik Tekendo-Ngongang, Hellen Lesmann, Tzung-Chien Hsieh, Rebekah L. Waikel, Elisabeth André, Peter Krawitz, Benjamin D. Solomon

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.


Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health.



Stellenbosch University


Duong, Dat; Johny, Anna Rose; Hanchard, Suzanna Ledgister; Fortney, Christopher; Flaharty, Kendall; Hellmann, Fabio; Hu, Ping; Javanmardi, Behnam; Moosa, Shahida; Patel, Tanviben; Persky, Susan; Sümer, Ömer; Tekendo-Ngongang, Cedrik; Lesmann, Hellen; Hsieh, Tzung-Chien; Waikel, Rebekah L.; André, Elisabeth ; Krawitz, Peter; Solomon, Benjamin D.




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Recommended Citation

Duong, D, Johny, AR, Hanchard, SL, Fortney, C, Flaharty, K, Hellmann, F, Hu, P, Javanmardi, B, Moosa, S, Patel, T, Persky, S, Sümer, Ö, Tekendo-Ngongang, C, Lesmann, H, Hsieh, T, Waikel, RL, André, E, Krawitz, P & Solomon, BD. 2024. Comparison of clinical geneticist and computer visual attention in assessing genetic conditions. Dataset. DOI:

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