Development and Clinical Evaluation of an AI Support Tool for Improving Telemedicine Photo Quality

Telemedicine utilization was accelerated during the COVID-19 pandemic, and skin conditions were a common use case. However, the quality of photographs sent by patients remains a major limitation. To address this issue, we developed TrueImage 2.0, an artificial intelligence (AI) model for assessing patient photo quality for telemedicine and providing real-time feedback to patients for photo quality improvement. TrueImage 2.0 was trained on 1700 telemedicine images annotated by clinicians for photo quality. On a retrospective dataset of 357 telemedicine images, TrueImage 2.0 effectively identified poor quality images (Receiver operator curve area under the curve (ROC-AUC) =0.78) and the reason for poor quality (Blurry ROC-AUC=0.84, Lighting issues ROC-AUC=0.70). The performance is consistent across age, gender, and skin tone. Next, we assessed whether patient-TrueImage 2.0 interaction led to an improvement in submitted photo quality through a prospective clinical pilot study with 98 patients. TrueImage 2.0 reduced the number of patients with a poor-quality image by 68.0%.Comment: 24 pages, 7 figure

The TRIPOD-LLM reporting guideline for studies using large language models

Large language models (LLMs) are rapidly being adopted in healthcare, necessitating standardized reporting guidelines. We present transparent reporting of a multivariable model for individual prognosis or diagnosis (TRIPOD)-LLM, an extension of the TRIPOD + artificial intelligence statement, addressing the unique challenges of LLMs in biomedical applications. TRIPOD-LLM provides a comprehensive checklist of 19 main items and 50 subitems, covering key aspects from title to discussion. The guidelines introduce a modular format accommodating various LLM research designs and tasks, with 14 main items and 32 subitems applicable across all categories. Developed through an expedited Delphi process and expert consensus, TRIPOD-LLM emphasizes transparency, human oversight and task-specific performance reporting. We also introduce an interactive website ( https://tripod-llm.vercel.app/ ) facilitating easy guideline completion and PDF generation for submission. As a living document, TRIPOD-LLM will evolve with the field, aiming to enhance the quality, reproducibility and clinical applicability of LLM research in healthcare through comprehensive reporting

The TRIPOD-LLM reporting guideline for studies using large language models

대형 언어 모델(large language model, LLM)의 활용이 의료 분야에서 빠르게 확대되면서, 표준화된 보고 지침의 필요성이 커지고 있다. 이 논문에서는 LLM을 활용한 연구를 위한 다변수 예측모델의 투명한 보고(TRIPOD-LLM) 지침을 제시하였다. TRIPOD-LLM은 기존 TRIPOD와 인공지능(artificial intelligence) 확장 지침을 기반으로 하며, 바이오 메디컬 분야에서 LLM이 가지는 고유한 도전 과제들을 반영하고 있다. 이 지침은 제목부터 논의까지 주요 내용을 포괄하는 19개 주요 항목과 50개 세부 항목으로 구성되어 있다. 다양한 LLM 연구설계와 작업에 적용할 수 있도록 모듈형 형식을 도입하였고, 모든 연구에 공통적으로 적용할 수 있는 14개 주요 항목과 32개 세부 항목을 포함한다. 이 지침은 신속한 델파이(Delphi) 과정과 전문가 합의를 거쳐 개발하였으며, 투명성과 인간 감독, 과업 특이적 성과(task-specific performance) 보고의 중요성을 강조한다. 또한 지침의 손쉬운 작성과 제출용 PDF 생성을 지원하는 인터랙티브 웹사이트(https://tripod-llm.vercel.app/)를 소개한다. TRIPOD-LLM은 ‘생명력 있는 문서’로서, 연구현장의 변화에 맞추어 지속적으로 개정될 예정이다. 이 지침을 통해 LLM 연구의 보고 수준을 높이고, 재현성과 임상 적용 가능성을 강화하는 데 기여하려고 한다

Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges

Precision medicine aims to predict a patient's disease risk and best therapeutic options by using that individual's genetic sequencing data. The Critical Assessment of Genome Interpretation (CAGI) is a community experiment consisting of genotype–phenotype prediction challenges; participants build models, undergo assessment, and share key findings. For CAGI 4, three challenges involved using exome-sequencing data: Crohn's disease, bipolar disorder, and warfarin dosing. Previous CAGI challenges included prior versions of the Crohn's disease challenge. Here, we discuss the range of techniques used for phenotype prediction as well as the methods used for assessing predictive models. Additionally, we outline some of the difficulties associated with making predictions and evaluating them. The lessons learned from the exome challenges can be applied to both research and clinical efforts to improve phenotype prediction from genotype. In addition, these challenges serve as a vehicle for sharing clinical and research exome data in a secure manner with scientists who have a broad range of expertise, contributing to a collaborative effort to advance our understanding of genotype–phenotype relationships

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Background: The Critical Assessment of Genome Interpretation (CAGI) aims to advance the state-of-the-art for computational prediction of genetic variant impact, particularly where relevant to disease. The five complete editions of the CAGI community experiment comprised 50 challenges, in which participants made blind predictions of phenotypes from genetic data, and these were evaluated by independent assessors. // Results: Performance was particularly strong for clinical pathogenic variants, including some difficult-to-diagnose cases, and extends to interpretation of cancer-related variants. Missense variant interpretation methods were able to estimate biochemical effects with increasing accuracy. Assessment of methods for regulatory variants and complex trait disease risk was less definitive and indicates performance potentially suitable for auxiliary use in the clinic. // Conclusions: Results show that while current methods are imperfect, they have major utility for research and clinical applications. Emerging methods and increasingly large, robust datasets for training and assessment promise further progress ahead

Machine learning for genetic prediction of psychiatric disorders: a systematic review

Machine learning methods have been employed to make predictions in psychiatry from genotypes, with the potential to bring improved prediction of outcomes in psychiatric genetics; however, their current performance is unclear. We aim to systematically review machine learning methods for predicting psychiatric disorders from genetics alone and evaluate their discrimination, bias and implementation. Medline, PsycInfo, Web of Science and Scopus were searched for terms relating to genetics, psychiatric disorders and machine learning, including neural networks, random forests, support vector machines and boosting, on 10 September 2019. Following PRISMA guidelines, articles were screened for inclusion independently by two authors, extracted, and assessed for risk of bias. Overall, 63 full texts were assessed from a pool of 652 abstracts. Data were extracted for 77 models of schizophrenia, bipolar, autism or anorexia across 13 studies. Performance of machine learning methods was highly varied (0.48–0.95 AUC) and differed between schizophrenia (0.54–0.95 AUC), bipolar (0.48–0.65 AUC), autism (0.52–0.81 AUC) and anorexia (0.62–0.69 AUC). This is likely due to the high risk of bias identified in the study designs and analysis for reported results. Choices for predictor selection, hyperparameter search and validation methodology, and viewing of the test set during training were common causes of high risk of bias in analysis. Key steps in model development and validation were frequently not performed or unreported. Comparison of discrimination across studies was constrained by heterogeneity of predictors, outcome and measurement, in addition to sample overlap within and across studies. Given widespread high risk of bias and the small number of studies identified, it is important to ensure established analysis methods are adopted. We emphasise best practices in methodology and reporting for improving future studies

Pharmacogenomics study of thiazide diuretics and QT interval in multi-ethnic populations: the cohorts for heart and aging research in genomic epidemiology

Thiazide diuretics, commonly used antihypertensives, may cause QT interval (QT) prolongation, a risk factor for highly fatal and difficult to predict ventricular arrhythmias. We examined whether common single-nucleotide polymorphisms (SNPs) modified the association between thiazide use and QT or its component parts (QRS interval, JT interval) by performing ancestry-specific, transethnic and cross-phenotype genome-wide analyses of European (66%), African American (15%) and Hispanic (19%) populations (N = 78 199), leveraging longitudinal data, incorporating corrected standard errors to account for underestimation of interaction estimate variances and evaluating evidence for pathway enrichment. Although no loci achieved genome-wide significance (P < 5 x 10(-8)), we found suggestive evidence (P < 5 x 10(-6)) for SNPs modifying the thiazide-QT association at 22 loci, including ion transport loci (for example, NELL1, KCNQ3). The biologic plausibility of our suggestive results and simulations demonstrating modest power to detect interaction effects at genome-wide significant levels indicate that larger studies and innovative statistical methods are warranted in future efforts evaluating thiazide-SNP interactions