ArticleJournal of the American Medical Informatics Association : JAMIA2024
A comparative evaluation of ChatGPT 3.5 and ChatGPT 4 in responses to selected genetics questions.
Article in Journal of the American Medical Informatics Association : JAMIA, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A systematic review on the generative AI applications in human medical genetics.Frontiers in genetics · 2025Pooled it
- Supporting patient understanding of cervical and ovarian cancer: how well does AI perform?Proceedings (Baylor University. Medical Center) · 2026Article
- An analysis of AI platforms: Can AI provide genetics education?Journal of genetic counseling · 2026Article
- Disparate language and model effects on AI-based translation and recognition of genetic conditions.Journal of the American Medical Informatics Association : JAMIA · 2026Article
- Multidisciplinary blinded randomized expert evaluation of large language models for clinical diagnosis and management.Communications medicine · 2026Article
- Artificial Intelligence agents for biological research: a survey.Briefings in bioinformatics · 2026Article
- Benchmarking five large language models in medical genetics: a bilingual comparative evaluation using published and novel expert-authored questions.Frontiers in medicine · 2026Article
- Hemochromatosis and Hepatic Complications: A Comprehensive Review of Molecular Mechanisms, Diagnostics, and Emerging Therapeutics.Current molecular medicine · 2026Review
- Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics.American journal of medical genetics. Part A · 2025Review
- Evaluation of Large Language Model Performance in Answering Clinical Questions on Periodontal Furcation Defect Management.Dentistry journal · 2025Article
- Chatbot for the Return of Positive Genetic Screening Results for Hereditary Cancer Syndromes: Prompt Engineering Project.JMIR cancer · 2025Article
- A comparative analysis of machine learning models and human expertise for nursing intervention classification.JAMIA open · 2025Article
- Artificial intelligence in clinical genetics.European journal of human genetics : EJHG · 2025Review
- Diagnostic Accuracy of a Custom Large Language Model on Rare Pediatric Disease Case Reports.American journal of medical genetics. Part A · 2025Article
- The efficacy, feasibility, and technical outcomes of a GPT-4o-based chatbot Amanda for relationship support: A randomized controlled trial.PLOS mental health · 2025Article
- ChatGPT as a Source for Patient Information on Patellofemoral Surgery-A Comparative Study Amongst Laymen, Doctors, and Experts.Clinics and practice · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
objectivesTo evaluate the efficacy of ChatGPT 4 (GPT-4) in delivering genetic information about BRCA1, HFE, and MLH1, building on previous findings with ChatGPT 3.5 (GPT-3.5). To focus on assessing the utility, limitations, and ethical implications of using ChatGPT in medical settings. MATERIALS AND
methodsA structured survey was developed to assess GPT-4's clinical value. An expert panel of genetic counselors and clinical geneticists evaluated GPT-4's responses to these questions. We also performed comparative analysis with GPT-3.5, utilizing descriptive statistics and using Prism 9 for data analysis.
resultsThe findings indicate improved accuracy in GPT-4 over GPT-3.5 (P < .0001). However, notable errors in accuracy remained. The relevance of responses varied in GPT-4, but was generally favorable, with a mean in the "somewhat agree" range. There was no difference in performance by disease category. The 7-question subset of the Bot Usability Scale (BUS-15) showed no statistically significant difference between the groups but trended lower in the GPT-4 version. DISCUSSION AND
conclusionThe study underscores GPT-4's potential role in genetic education, showing notable progress yet facing challenges like outdated information and the necessity of ongoing refinement. Our results, while showing promise, emphasizes the importance of balancing technological innovation with ethical responsibility in healthcare information delivery.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.