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

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.

Human and computer attention in assessing genetic conditions.

Deep learning (DL) and other types of artificial intelligence (AI) are increasingly used in many biomedical areas, including genetics. One frequent use in medical genetics involves evaluating images of people with potential genetic conditions to help with diagnosis. A central question involves better understanding how AI classifiers assess images compared to humans. To explore this, we performed eye-tracking analyses of geneticist clinicians and non-clinicians. We compared results to DL-based saliency maps. We found that human visual attention when assessing images differs greatly from the parts of images weighted by the DL model. Further, individuals tend to have a specific pattern of image inspection, and clinicians demonstrate different visual attention patterns than non-clinicians.

Few-Shot Meta-Learning for Recognizing Facial Phenotypes of Genetic Disorders.

Computer vision has useful applications in precision medicine and recognizing facial phenotypes of genetic disorders is one of them. Many genetic disorders are known to affect faces' visual appearance and geometry. Automated classification and similarity retrieval aid physicians in decision-making to diagnose possible genetic conditions as early as possible. Previous work has addressed the problem as a classification problem; however, the sparse label distribution, having few labeled samples, and huge class imbalances across categories make representation learning and generalization harder. In this study, we used a facial recognition model trained on a large corpus of healthy individuals as a pre-task and transferred it to facial phenotype recognition. Furthermore, we created simple baselines of few-shot meta-learning methods to improve our base feature descriptor. Our quantitative results on GestaltMatcher Database (GMDB) show that our CNN baseline surpasses previous works, including GestaltMatcher, and few-shot meta-learning strategies improve retrieval performance in frequent and rare classes.

FakeNewsPerception: An eye movement dataset on the perceived believability of news stories.

Extensive use of the internet has enabled easy access to many different sources, such as news and social media. Content shared on the internet cannot be fully fact-checked and, as a result, misinformation can spread in a fast and easy way. Recently, psychologists and economists have shown in many experiments that prior beliefs, knowledge, and the willingness to think deliberately are important determinants to explain who falls for fake news. Many of these studies only rely on self-reports, which suffer from social desirability. We need more objective measures of information processing, such as eye movements, to effectively analyze the reading of news. To provide the research community the opportunity to study human behaviors in relation to news truthfulness, we propose the FakeNewsPerception dataset. FakeNewsPerception consists of eye movements during reading, perceived believability scores, questionnaires including Cognitive Reflection Test (CRT) and News-Find-Me (NFM) perception, and political orientation, collected from 25 participants with 60 news items. Initial analyses of the eye movements reveal that human perception differs when viewing true and fake news.