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

Institutions

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

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Assessing large language model performance related to aging in genetic conditions

Rebekah L. Waikel, Suzanna E. Ledgister Hanchard, Amna Othman, Dat Duong et al.
2 citations
npj Aging
Genomics and Rare Diseases
3.63
article

Assessing large language model performance related to aging in genetic conditions

Rebekah L. Waikel, Suzanna E. Ledgister Hanchard, Amna Othman, Dat Duong, Benjamin D. Solomon, Kendall A. Flaharty, Ping Hu
article en
2 citations

Abstract

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.

npj AgingVol. 11(1)
National Human Genome Research Institute (US)
National Institutes of Health, National Human Genome Research Institute
Quality Education
Openalex Percentile: Top 8%
Genomics and Rare Diseases
3.63
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.

Assessing large language model performance related to aging in genetic conditions — Rebekah L. Waikel, Suzanna E. Ledgister Hanchard, et al. · npj Aging (2025) | TGRS Research Map | TGRS