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Abstract Machine learning and artificial intelligence (AI/ML) models in healthcare may exacerbate health biases. Regulatory oversight is critical in evaluating the safety and effectiveness of AI/ML devices in clinical settings. We conducted a scoping review on the 692 FDA-approved AI/ML-enabled medical devices approved from 1995-2023 to examine transparency, safety reporting, and sociodemographic representation. Only 3.6% of approvals reported race/ethnicity, 99.1% provided no socioeconomic data. 81.6% did not report the age of study subjects. Only 46.1% provided comprehensive detailed results of performance studies; only 1.9% included a link to a scientific publication with safety and efficacy data. Only 9.0% contained a prospective study for post-market surveillance. Despite the growing number of market-approved medical devices, our data shows that FDA reporting data remains inconsistent. Demographic and socioeconomic characteristics are underreported, exacerbating the risk of algorithmic bias and health disparity.

AbstractThis study evaluated the accuracy of ChatGPT in translating English patient education materials into Spanish, Mandarin, and Russian. While ChatGPT shows promise for translating Spanish and Russian medical information, Mandarin translations require further refinement, highlighting the need for careful review of AI-generated translations before clinical use.

Abstract The development of diagnostic tools for skin cancer based on artificial intelligence (AI) is increasing rapidly and will likely soon be widely implemented in clinical use. Even though the performance of these algorithms is promising in theory, there is limited evidence on the impact of AI assistance on human diagnostic decisions. Therefore, the aim of this systematic review and meta-analysis was to study the effect of AI assistance on the accuracy of skin cancer diagnosis. We searched PubMed, Embase, IEE Xplore, Scopus and conference proceedings for articles from 1/1/2017 to 11/8/2022. We included studies comparing the performance of clinicians diagnosing at least one skin cancer with and without deep learning-based AI assistance. Summary estimates of sensitivity and specificity of diagnostic accuracy with versus without AI assistance were computed using a bivariate random effects model. We identified 2983 studies, of which ten were eligible for meta-analysis. For clinicians without AI assistance, pooled sensitivity was 74.8% (95% CI 68.6–80.1) and specificity was 81.5% (95% CI 73.9–87.3). For AI-assisted clinicians, the overall sensitivity was 81.1% (95% CI 74.4–86.5) and specificity was 86.1% (95% CI 79.2–90.9). AI benefitted medical professionals of all experience levels in subgroup analyses, with the largest improvement among non-dermatologists. No publication bias was detected, and sensitivity analysis revealed that the findings were robust. AI in the hands of clinicians has the potential to improve diagnostic accuracy in skin cancer diagnosis. Given that most studies were conducted in experimental settings, we encourage future studies to further investigate these potential benefits in real-life settings.

Abstract Large language models (LLMs) are being integrated into healthcare systems; but these models may recapitulate harmful, race-based medicine. The objective of this study is to assess whether four commercially available large language models (LLMs) propagate harmful, inaccurate, race-based content when responding to eight different scenarios that check for race-based medicine or widespread misconceptions around race. Questions were derived from discussions among four physician experts and prior work on race-based medical misconceptions believed by medical trainees. We assessed four large language models with nine different questions that were interrogated five times each with a total of 45 responses per model. All models had examples of perpetuating race-based medicine in their responses. Models were not always consistent in their responses when asked the same question repeatedly. LLMs are being proposed for use in the healthcare setting, with some models already connecting to electronic health record systems. However, this study shows that based on our findings, these LLMs could potentially cause harm by perpetuating debunked, racist ideas.

Abstract Images depicting dark skin tones are significantly underrepresented in the educational materials used to teach primary care physicians and dermatologists to recognize skin diseases. This could contribute to disparities in skin disease diagnosis across different racial groups. Previously, domain experts have manually assessed textbooks to estimate the diversity in skin images. Manual assessment does not scale to many educational materials and introduces human errors. To automate this process, we present the Skin Tone Analysis for Representation in EDucational materials (STAR-ED) framework, which assesses skin tone representation in medical education materials using machine learning. Given a document (e.g., a textbook in .pdf), STAR-ED applies content parsing to extract text, images, and table entities in a structured format. Next, it identifies images containing skin, segments the skin-containing portions of those images, and estimates the skin tone using machine learning. STAR-ED was developed using the Fitzpatrick17k dataset. We then externally tested STAR-ED on four commonly used medical textbooks. Results show strong performance in detecting skin images (0.96 ± 0.02 AUROC and 0.90 ± 0.06 F1 score) and classifying skin tones (0.87 ± 0.01 AUROC and 0.91 ± 0.00 F1 score). STAR-ED quantifies the imbalanced representation of skin tones in four medical textbooks: brown and black skin tones (Fitzpatrick V-VI) images constitute only 10.5% of all skin images. We envision this technology as a tool for medical educators, publishers, and practitioners to assess skin tone diversity in their educational materials.

This paper provides an overview of artificial-intelligence (AI), as applied to dermatology. We focus our discussion on methodology, AI applications for various skin diseases, limitations, and future opportunities. We review how the current image-based models are being implemented in dermatology across disease subsets, and highlight the challenges facing widespread adoption. Additionally, we discuss how the future of AI in dermatology might evolve and the emerging paradigm of large language, and multi-modal models to emphasize the importance of developing responsible, fair, and equitable models in dermatology.

The authors perform a meta-analysis of cutaneous squamous cell carcinoma, identifying causal variants within skin-specific regulatory elements.

Abstract Background Genome-wide association studies are useful for discovering genotype–phenotype associations but are limited because they require large cohorts to identify a signal, which can be population-specific. Mapping genetic variation to genes improves power and allows the effects of both protein-coding variation as well as variation in expression to be combined into “gene level” effects. Methods Previous work has shown that warfarin dose can be predicted using information from genetic variation that affects protein-coding regions. Here, we introduce a method that improves dose prediction by integrating tissue-specific gene expression. In particular, we use drug pathways and expression quantitative trait loci knowledge to impute gene expression—on the assumption that differential expression of key pathway genes may impact dose requirement. We focus on 116 genes from the pharmacokinetic and pharmacodynamic pathways of warfarin within training and validation sets comprising both European and African-descent individuals. Results We build gene-tissue signatures associated with warfarin dose in a cohort-specific manner and identify a signature of 11 gene-tissue pairs that significantly augments the International Warfarin Pharmacogenetics Consortium dosage-prediction algorithm in both populations. Conclusions Our results demonstrate that imputed expression can improve dose prediction and bridge population-specific compositions. MATLAB code is available at https://github.com/assafgo/warfarin-cohort

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease that results in progressive degeneration of motor neurons, ultimately leading to paralysis and death. Approximately 10% of ALS cases are familial, with the remaining 90% of cases being sporadic. Genetic studies in familial cases of ALS have been extremely informative in determining the causative mutations behind ALS, especially as the same mutations identified in familial ALS can also cause sporadic disease. However, the cause of ALS in approximately 30% of familial cases and in the majority of sporadic cases remains unknown. Sporadic ALS cases represent an underutilized resource for genetic information about ALS; therefore, we undertook a targeted sequencing approach of 169 known and candidate ALS disease genes in 242 sporadic ALS cases and 129 matched controls to try to identify novel variants linked to ALS. We found a significant enrichment in novel and rare variants in cases versus controls, indicating that we are likely identifying disease associated mutations. This study highlights the utility of next generation sequencing techniques combined with functional studies and rare variant analysis tools to provide insight into the genetic etiology of a heterogeneous sporadic disease.

There is great variation in drug-response phenotypes, and a "one size fits all" paradigm for drug delivery is flawed. Pharmacogenomics is the study of how human genetic information impacts drug response, and it aims to improve efficacy and reduced side effects. In this article, we provide an overview of pharmacogenetics, including pharmacokinetics (PK), pharmacodynamics (PD), gene and pathway interactions, and off-target effects. We describe methods for discovering genetic factors in drug response, including genome-wide association studies (GWAS), expression analysis, and other methods such as chemoinformatics and natural language processing (NLP). We cover the practical applications of pharmacogenomics both in the pharmaceutical industry and in a clinical setting. In drug discovery, pharmacogenomics can be used to aid lead identification, anticipate adverse events, and assist in drug repurposing efforts. Moreover, pharmacogenomic discoveries show promise as important elements of physician decision support. Finally, we consider the ethical, regulatory, and reimbursement challenges that remain for the clinical implementation of pharmacogenomics.