Comprehensive Review of Large Language Models for Efficient and Accurate Disease Diagnosis

核心概念

Large language models (LLMs) have demonstrated remarkable potential in automating disease diagnosis, offering enhanced accuracy, efficiency, and accessibility in clinical practice.

摘要

This comprehensive review examines the current state of LLM-based methods for disease diagnosis. The key insights are:

1. Disease Types and Clinical Specialties: The review covers a wide range of disease types across 19 clinical specialties, including infectious diseases, cardiology, oncology, psychiatry, and more.

2. Clinical Data and Modalities: The input data spans diverse modalities, such as text (clinical notes, medical reports), images (X-rays, MRIs), time series (ECG, wearable sensors), and multimodal combinations.

3. LLM Techniques: The review categorizes the applied LLM techniques into four main groups: prompt-based methods, retrieval-augmented generation (RAG), fine-tuning, and pre-training. It analyzes the strengths, limitations, and appropriate use cases for each technique.

4. Evaluation Strategies: The review summarizes the pros and cons of automatic, human, and LLM-based evaluation methods, providing guidance on selecting suitable evaluation approaches.

5. Limitations and Future Directions: The review identifies key challenges, including the need for comprehensive multimodal data, adherence to clinical guidelines, human-centric perspectives (interpretability, privacy, fairness), and the development of robust, stable, and generalizable diagnostic systems.

Overall, this review offers a comprehensive blueprint for leveraging LLMs to advance disease diagnosis, inspiring future research and streamlining the development of efficient and accurate diagnostic tools.

统计

"Automatic disease diagnosis has become increasingly valuable in clinical practice."
"Recent advancements in artificial intelligence (AI) have driven the development of automated diagnostic systems."
"LLMs, such as generative pre-trained transformers (GPT) and LLaMA, are generative models pre-trained on vast amounts of unlabeled data through self-supervised learning."
"Med-MLLM, a multimodal LLM pre-trained and fine-tuned on extensive medical data, including chest X-rays, CT scans, and clinical notes, demonstrated notable accuracy in COVID-19 diagnosis."
"Kim et al. employed GPT-4 with prompt engineering and found it surpassed mental health professionals in identifying obsessive-compulsive disorder."

引用

"Automatic disease diagnosis has become increasingly valuable in clinical practice."
"Recent advancements in artificial intelligence (AI) have driven the development of automated diagnostic systems."
"LLMs, such as generative pre-trained transformers (GPT) and LLaMA, are generative models pre-trained on vast amounts of unlabeled data through self-supervised learning."
"Med-MLLM, a multimodal LLM pre-trained and fine-tuned on extensive medical data, including chest X-rays, CT scans, and clinical notes, demonstrated notable accuracy in COVID-19 diagnosis."
"Kim et al. employed GPT-4 with prompt engineering and found it surpassed mental health professionals in identifying obsessive-compulsive disorder."

从中提取的关键见解

Large Language Models for Disease Diagnosis: A Scoping Review

by Shuang Zhou,... 在 arxiv.org 09-20-2024

https://arxiv.org/pdf/2409.00097.pdf

更深入的查询

How can LLM-based diagnostic systems be effectively integrated into clinical workflows to enhance collaboration between clinicians and AI assistants?

Integrating LLM-based diagnostic systems into clinical workflows requires a multifaceted approach that prioritizes seamless collaboration between clinicians and AI assistants. First, it is essential to develop user-friendly interfaces that allow clinicians to interact with LLMs intuitively. These interfaces should facilitate natural language processing, enabling clinicians to input patient data and receive diagnostic suggestions in a conversational manner. This interaction can be enhanced through adaptive interfaces that learn from clinician feedback, improving the relevance and accuracy of AI-generated insights over time.
Second, LLMs should be designed to support clinical decision-making rather than replace it. This can be achieved by providing clinicians with not only diagnostic predictions but also explanations and justifications for these predictions. For instance, LLMs can utilize Chain-of-Thought (CoT) reasoning to break down complex diagnostic processes into understandable steps, allowing clinicians to follow the AI's reasoning and make informed decisions.
Third, integrating LLMs into existing electronic health record (EHR) systems can streamline workflows. By embedding LLM capabilities directly into EHR platforms, clinicians can access AI-driven insights without disrupting their routine tasks. This integration can also facilitate the collection of multimodal data, such as clinical notes, lab results, and imaging reports, enabling LLMs to provide more comprehensive diagnostic support.
Finally, ongoing training and education for clinicians on how to effectively use LLM-based systems are crucial. This includes understanding the strengths and limitations of AI, fostering a collaborative mindset where clinicians view AI as a supportive tool rather than a competitor. Regular feedback loops between clinicians and AI developers can further refine the system, ensuring it evolves to meet the dynamic needs of clinical practice.

What are the potential ethical and legal implications of deploying LLM-based diagnostic systems, and how can these concerns be addressed to ensure responsible and trustworthy AI in healthcare?

The deployment of LLM-based diagnostic systems in healthcare raises several ethical and legal implications that must be carefully considered. One significant concern is patient privacy and data security. LLMs often require access to sensitive patient information, and any breach could lead to severe consequences. To address this, healthcare organizations must implement robust data protection measures, including encryption, anonymization, and strict access controls. Compliance with regulations such as the Health Insurance Portability and Accountability Act (HIPAA) and the General Data Protection Regulation (GDPR) is essential to safeguard patient data.
Another ethical concern is the potential for bias in AI algorithms, which can lead to disparities in healthcare outcomes. LLMs trained on biased datasets may produce skewed diagnostic results, disproportionately affecting certain demographic groups. To mitigate this risk, it is crucial to ensure diverse and representative training datasets. Continuous monitoring and auditing of AI systems for bias should be established, along with mechanisms for accountability when biases are detected.
Additionally, the issue of liability arises when AI systems are involved in clinical decision-making. Determining responsibility in cases of misdiagnosis or adverse outcomes can be complex. Clear guidelines and legal frameworks must be developed to delineate the roles and responsibilities of AI developers, healthcare providers, and institutions. This includes establishing standards for the validation and certification of LLM-based diagnostic systems to ensure they meet safety and efficacy benchmarks.
Lastly, fostering transparency in AI operations is vital for building trust among clinicians and patients. Providing clear explanations of how LLMs arrive at diagnostic conclusions can enhance understanding and acceptance. Engaging stakeholders, including patients, clinicians, and ethicists, in the development and deployment processes can help address ethical concerns and promote responsible AI use in healthcare.

Given the rapid advancements in multimodal LLMs, how can these models be leveraged to provide comprehensive, holistic assessments of patient health, going beyond single-disease diagnosis?

Multimodal LLMs represent a significant advancement in the ability to conduct comprehensive assessments of patient health by integrating various data types, including text, images, audio, and time-series data. To leverage these models effectively, several strategies can be employed.
First, multimodal LLMs can synthesize information from diverse sources, such as clinical notes, medical imaging, lab results, and patient-reported outcomes. By analyzing this rich dataset, LLMs can identify patterns and correlations that may not be apparent when considering single-disease diagnoses. For example, a multimodal approach can help detect comorbidities by analyzing how different conditions interact and affect overall patient health.
Second, these models can facilitate early detection and preventive care by continuously monitoring patient data streams. For instance, integrating real-time data from wearable devices, such as heart rate monitors or glucose sensors, allows LLMs to provide timely alerts for potential health issues. This proactive approach can lead to earlier interventions and better management of chronic conditions.
Third, multimodal LLMs can enhance patient engagement by providing personalized health insights. By analyzing a patient's unique health profile, including genetic information, lifestyle factors, and medical history, LLMs can generate tailored recommendations for lifestyle changes, preventive screenings, and treatment options. This personalized approach not only improves patient outcomes but also fosters a sense of ownership over one's health.
Moreover, the integration of multimodal data can support interdisciplinary collaboration among healthcare providers. By providing a holistic view of a patient's health, LLMs can facilitate discussions among specialists from different fields, leading to more coordinated and effective care plans. For example, a patient with diabetes may require input from endocrinologists, nutritionists, and mental health professionals, all of whom can benefit from the comprehensive insights provided by multimodal LLMs.
In summary, leveraging multimodal LLMs for holistic health assessments involves synthesizing diverse data sources, enabling early detection, personalizing patient care, and fostering interdisciplinary collaboration. This comprehensive approach can significantly enhance the quality of healthcare delivery and improve patient outcomes.