# A Systematic Review on the Generative AI Applications in Human Medical Genomics

arXiv: https://arxiv.org/abs/2508.20275 · HTML: https://mlsanity.com/paper/2508.20275/

## Key facts

- No citing papers in the map yet (data through 14 Oct 2026).
- Builds on 70 of its 254 references that are in the map.
- First posted on arXiv 27 Aug 2025.

## Builds on (most cited first, 30 of 70)

- [Attention Is All You Need](https://mlsanity.com/paper/1706.03762/) (2017)
- [BERT: Pre-training of Deep Bidirectional Transformers for Language Understanding](https://mlsanity.com/paper/1810.04805/) (2018)
- [Language Models are Few-Shot Learners](https://mlsanity.com/paper/2005.14165/) (2020)
- [An Image is Worth 16x16 Words: Transformers for Image Recognition at Scale](https://mlsanity.com/paper/2010.11929/) (2020)
- [Exploring the Limits of Transfer Learning with a Unified Text-to-Text Transformer](https://mlsanity.com/paper/1910.10683/) (2019)
- [LoRA: Low-Rank Adaptation of Large Language Models](https://mlsanity.com/paper/2106.09685/) (2021)
- [Swin Transformer: Hierarchical Vision Transformer using Shifted Windows](https://mlsanity.com/paper/2103.14030/) (2021)
- [A Simple Framework for Contrastive Learning of Visual Representations](https://mlsanity.com/paper/2002.05709/) (2020)
- [Retrieval-Augmented Generation for Knowledge-Intensive NLP Tasks](https://mlsanity.com/paper/2005.11401/) (2020)
- [ReAct: Synergizing Reasoning and Acting in Language Models](https://mlsanity.com/paper/2210.03629/) (2022)
- [Evaluating Large Language Models Trained on Code](https://mlsanity.com/paper/2107.03374/) (2021)
- [A Style-Based Generator Architecture for Generative Adversarial Networks](https://mlsanity.com/paper/1812.04948/) (2018)
- [Toolformer: Language Models Can Teach Themselves to Use Tools](https://mlsanity.com/paper/2302.04761/) (2023)
- [QLoRA: Efficient Finetuning of Quantized LLMs](https://mlsanity.com/paper/2305.14314/) (2023)
- [Big Bird: Transformers for Longer Sequences](https://mlsanity.com/paper/2007.14062/) (2020)
- [Large Language Models](https://mlsanity.com/paper/2307.05782/) (2023)
- [Galactica: A Large Language Model for Science](https://mlsanity.com/paper/2211.09085/) (2022)
- [TabTransformer: Tabular Data Modeling Using Contextual Embeddings](https://mlsanity.com/paper/2012.06678/) (2020)
- [Parameter-Efficient Fine-Tuning Methods for Pretrained Language Models: A Critical Review and Assessment](https://mlsanity.com/paper/2312.12148/) (2023)
- [Causality matters in medical imaging](https://mlsanity.com/paper/1912.08142/) (2019)
- [Physics of Language Models: Part 3.2, Knowledge Manipulation](https://mlsanity.com/paper/2309.14402/) (2023)
- [GeneGPT: Augmenting Large Language Models with Domain Tools for Improved Access to Biomedical Information](https://mlsanity.com/paper/2304.09667/) (2023)
- [Task Contamination: Language Models May Not Be Few-Shot Anymore](https://mlsanity.com/paper/2312.16337/) (2023)
- [BioMedLM: A 2.7B Parameter Language Model Trained On Biomedical Text](https://mlsanity.com/paper/2403.18421/) (2024)
- [Multimodal Alignment and Fusion: A Survey](https://mlsanity.com/paper/2411.17040/) (2024)
- [Adapters: A Unified Library for Parameter-Efficient and Modular Transfer Learning](https://mlsanity.com/paper/2311.11077/) (2023)
- [BioDiscoveryAgent: An AI Agent for Designing Genetic Perturbation Experiments](https://mlsanity.com/paper/2405.17631/) (2024)
- [LessLeak-Bench: A First Investigation of Data Leakage in LLMs Across 83 Software Engineering Benchmarks](https://mlsanity.com/paper/2502.06215/) (2025)
- [Reproducibility in Machine Learning-based Research: Overview, Barriers and Drivers](https://mlsanity.com/paper/2406.14325/) (2024)
- [Unmasking and Quantifying Racial Bias of Large Language Models in Medical Report Generation](https://mlsanity.com/paper/2401.13867/) (2024)

## Abstract (arXiv)

Although traditional statistical techniques and machine learning methods have contributed significantly to genetics and, in particular, inherited disease diagnosis, they often struggle with complex, high-dimensional data, a challenge now addressed by state-of-the-art deep learning models. Large language models (LLMs), based on transformer architectures, have excelled in tasks requiring contextual comprehension of unstructured medical data. This systematic review examines the role of LLMs in the genetic research and diagnostics of both rare and common diseases. Automated keyword-based search in PubMed, bioRxiv, medRxiv, and arXiv was conducted, targeting studies on LLM applications in diagnostics and education within genetics and removing irrelevant or outdated models. A total of 172 studies were analyzed, highlighting applications in genomic variant identification, annotation, and interpretation, as well as medical imaging advancements through vision transformers. Key findings indicate that while transformer-based models significantly advance disease and risk stratification, variant interpretation, medical imaging analysis, and report generation, major challenges persist in integrating multimodal data (genomic sequences, imaging, and clinical records) into unified and clinically robust pipelines, facing limitations in generalizability and practical implementation in clinical settings. This review provides a comprehensive classification and assessment of the current capabilities and limitations of LLMs in transforming hereditary disease diagnostics and supporting genetic education, serving as a guide to navigate this rapidly evolving field.