Assessing large language model performance related to aging in genetic conditions
Most genetic conditions are described in pediatric populations, leaving a gap in understanding their clinical progression and management in adulthood. Motivated by other applications of large language models (LLMs), we evaluated whether Llama-2-70b-chat (70b) and GPT-3.5 (GPT) could generate plausible medical vignettes, patient-geneticist dialogues and management plans for a hypothetical child and adult patients across 282 genetic conditions (selected by prevalence and categorized based on age-related characteristics). Results showed that LLMs provided appropriate age-based responses in both child and adult outputs based on Correctness and Completeness scores graded by clinicians. Sub-analysis of metabolic conditions including those typically presents neonatally with crisis also showed age-appropriate LLM responses. However 70b and GPT obtained low Correctness and Completeness scores at producing plausible management plans (55-66% for 70b and a wider range, 50-90%, for GPT). This suggests that LLMs still have some limitations in clinical applications.
Authors
- Rebekah L. Waikel (ORCID: https://orcid.org/0000-0001-8635-7542)
- Suzanna E. Ledgister Hanchard (ORCID: https://orcid.org/0000-0002-5180-256X)
- Amna Othman (ORCID: https://orcid.org/0000-0001-7309-7243)
- Dat Duong (ORCID: https://orcid.org/0000-0003-3022-9378)
- Benjamin D. Solomon (ORCID: https://orcid.org/0000-0002-8826-1023)
- Kendall A. Flaharty (ORCID: https://orcid.org/0009-0000-9473-1354)
- Ping Hu (ORCID: https://orcid.org/0000-0002-3121-9852)
Institutions
- National Human Genome Research Institute (US)
Publication Details
- Journal
- npj Aging
- Published
- 2025-05-03
- DOI
- https://doi.org/10.1038/s41514-025-00226-z
- Citations
- 2
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 3.63
Funders
- National Institutes of Health
- National Human Genome Research Institute