Application of deep learning and explainable AI-supported medical decision-making for facial phenotyping in genetic syndromes
Bibliographic record
Abstract
Artificial intelligence (AI) tools are increasingly employed in clinical genetics to assist in diagnosing genetic conditions by assessing photographs of patients. For medical uses of AI, explainable AI (XAI) methods offer a promising approach by providing interpretable outputs, such as saliency maps and region relevance visualizations. XAI has been discussed as important for regulatory purposes and to enable clinicians to better understand how AI tools work in practice. However, the real-world effects of XAI on clinician performance, confidence, and trust remain underexplored. This study involved a web-based user experiment with 31 medical geneticists to assess the impact of AI-only diagnostic assistance compared to XAI-supported diagnostics. Participants were randomly assigned to either group and completed diagnostic tasks with 18 facial images of individuals with known genetic syndromes and unaffected individuals, before and after experiencing the AI outputs. The results show that both AI-only and XAI approaches improved diagnostic accuracy and clinician confidence. The effects varied according to the accuracy of AI predictions and the clarity of syndromic features (sample difficulty). While AI support was viewed positively, users approached XAI with skepticism. Interestingly, we found a positive correlation between diagnostic improvement and XAI intervention. Although XAI support did not significantly enhance overall performance relative to AI alone, it prompted users to critically evaluate images with false predictions and influenced their confidence levels. These findings highlight the complexities of trust, perceived usefulness, and interpretability in AI-assisted diagnostics, with important implications for developing and implementing clinical decision-support tools in facial phenotyping for rare genetic diseases.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.010 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".