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Research papers on Personalized medicine and genomics

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  1. The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population

    A. Verma, S. Damrauer, Nawar Naseer, et al. · 2022 · Journal of Personalized Medicine · 129 citations

    The Penn Medicine BioBank (PMBB) is an electronic health record (EHR)-linked biobank at the University of Pennsylvania (Penn Medicine). A large variety of health-related information, ranging from diagnosis codes to laboratory measurements, imaging data and lifestyle information, is integrated with genomic and biomarker data in the PMBB to facilitate discoveries and translational science. To date, 174,712 participants have been enrolled into the PMBB, including approximately 30% of participants of non-European ancestry, making it one of the most diverse medical biobanks. There is a median of seven years of longitudinal data in the EHR available on participants, who also consent to permission

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  3. Unsupervised Learning in Precision Medicine: Unlocking Personalized Healthcare through AI

    A. Trezza, Anna Visibelli, B. Roncaglia, et al. · 2024 · Applied Sciences · 40 citations

    Integrating Artificial Intelligence (AI) into Precision Medicine (PM) is redefining healthcare, enabling personalized treatments tailored to individual patients based on their genetic code, environment, and lifestyle. AI’s ability to analyze vast and complex datasets, including genomics and medical records, facilitates the identification of hidden patterns and correlations, which are critical for developing personalized treatment plans. Unsupervised Learning (UL) is particularly valuable in PM as it can analyze unstructured and unlabeled data to uncover novel disease subtypes, biomarkers, and patient stratifications. By revealing patterns that are not explicitly labeled, unsupervised algorit

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  4. Personalized anesthesia and precision medicine: a comprehensive review of genetic factors, artificial intelligence, and patient-specific factors

    Shiyue Zeng, Qi Qing, Wei Xu, et al. · 2024 · Frontiers in Medicine · 38 citations

    Precision medicine, characterized by the personalized integration of a patient’s genetic blueprint and clinical history, represents a dynamic paradigm in healthcare evolution. The emerging field of personalized anesthesia is at the intersection of genetics and anesthesiology, where anesthetic care will be tailored to an individual’s genetic make-up, comorbidities and patient-specific factors. Genomics and biomarkers can provide more accurate anesthetic protocols, while artificial intelligence can simplify anesthetic procedures and reduce anesthetic risks, and real-time monitoring tools can improve perioperative safety and efficacy. The aim of this paper is to present and summarize the applic

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  5. PRECISION MEDICINE AND GENOMICS: A COMPREHENSIVE REVIEW OF IT-ENABLED APPROACHES

    Francisca Chibugo Udegbe, Ogochukwu Roseline Ebulue, Charles Chukwudalu Ebulue, et al. · 2024 · International Medical Science Research Journal · 29 citations

     This review delves into Information Technology's (IT) transformative impact on precision medicine and genomics, spotlighting the pivotal role of bioinformatics, data mining, machine learning, and blockchain technologies in advancing personalized healthcare. A comprehensive analysis outlines how these IT-enabled approaches facilitate the analysis, interpretation, and application of vast genomic data sets, thereby enhancing disease prediction, diagnosis, and treatment on an individual level. Despite the promising advancements, the review also addresses significant challenges, including data complexity, interoperability, ethical considerations, and the digital divide, underscoring the necessit

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  6. Incorporating Novel Technologies in Precision Oncology for Colorectal Cancer: Advancing Personalized Medicine

    P. Ahluwalia, Kalyani Ballur, Tiffanie Leeman, et al. · 2024 · Cancers · 21 citations

    Simple Summary Cancer affects millions of individuals every year, with colorectal cancer being among the most common. There is an increased need to identify new biomarkers that can not only diagnose patients early, but also stratify them so the best treatment can be initiated for each patient. Every human has a unique genetic makeup that causes them to respond differently to cancer. In recent years, new technologies have provided unprecedented access to tumor samples from patients. Through these analyses, we can not only diagnose and classify patients based on their comparative risk, but also monitor their response to emerging therapies. Continued progress using these methods will transform

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  7. UltraAIGenomics: Artificial Intelligence-Based Cardiovascular Disease Risk Assessment by Fusion of Ultrasound-Based Radiomics and Genomics Features for Preventive, Personalized and Precision Medicine: A Narrative Review

    L. Saba, M. Maindarkar, A. Johri, et al. · 2024 · Reviews in Cardiovascular Medicine · 20 citations

    Cardiovascular disease (CVD) diagnosis and treatment are challenging since symptoms appear late in the disease’s progression. Despite clinical risk scores, cardiac event prediction is inadequate, and many at-risk patients are not adequately categorised by conventional risk factors alone. Integrating genomic-based biomarkers (GBBM), specifically those found in plasma and/or serum samples, along with novel non-invasive radiomic-based biomarkers (RBBM) such as plaque area and plaque burden can improve the overall specificity of CVD risk. This review proposes two hypotheses: (i) RBBM and GBBM biomarkers have a strong correlation and can be used to detect the severity of CVD and stroke precisely,

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  8. Large Language Models in Genomics—A Perspective on Personalized Medicine

    Shahid Ali, Yazdan Ahmad Qadri, Khursheed Ahmad, et al. · 2025 · Bioengineering · 20 citations

    Integrating artificial intelligence (AI), particularly large language models (LLMs), into the healthcare industry is revolutionizing the field of medicine. LLMs possess the capability to analyze the scientific literature and genomic data by comprehending and producing human-like text. This enhances the accuracy, precision, and efficiency of extensive genomic analyses through contextualization. LLMs have made significant advancements in their ability to understand complex genetic terminology and accurately predict medical outcomes. These capabilities allow for a more thorough understanding of genetic influences on health issues and the creation of more effective therapies. This review emphasi

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  9. From Genomics to AI: Revolutionizing Precision Medicine in Oncology

    Giulia Calvino, Juliette Farro, S. Zampatti, et al. · 2025 · Applied Sciences · 18 citations

    The increasing burden of cancer globally necessitates innovative approaches for diagnosis, prognosis, and treatment. This article explores the transformative impact of genomics and artificial intelligence (AI) in precision oncology, addressing how their convergence is reshaping cancer care and its challenges. Methods: This review synthesizes current research on the applications of genomics, including next-generation sequencing, and AI, such as machine learning and deep learning, across the cancer care continuum. It examines their roles in identifying genetic variants, assessing cancer risk, guiding targeted therapies and immunotherapy, predicting treatment response, and enabling early detect

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  10. Applications of Green Carbon Dots in Personalized Diagnostics for Precision Medicine

    H. Etefa, F. B. Dejene · 2025 · International Journal of Molecular Sciences · 17 citations

    Green carbon dots (GCDs) have emerged as a revolutionary tool in precision medicine, offering transformative capabilities for personalized diagnostics and therapeutic strategies. Their unique optical and biocompatible properties make them ideal for non-invasive imaging, real-time monitoring, and integration with genomics, proteomics, and bioinformatics, enabling accurate diagnosis and tailored treatments based on patients’ genetic and molecular profiles. This study explores the potential of GCDs in advancing individualized patient care by examining their applications in precision medicine. It evaluates their utility in non-invasive diagnostic imaging, targeted therapy delivery, and the formu

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  11. Patient-Derived Organoid Biobanks for Translational Research and Precision Medicine: Challenges and Future Perspectives

    F. J. Di Paola, G. Calafato, P. Piccaluga, et al. · 2025 · Journal of Personalized Medicine · 17 citations

    Over the past decade, patient-derived organoids (PDOs) have emerged as powerful in vitro models that closely recapitulate the histological, genetic, and functional features of their parental primary tissues, representing a ground-breaking tool for cancer research and precision medicine. This advancement has led to the development of living PDO biobanks, collections of organoids derived from a wide range of tumor types and patient populations, which serve as essential platforms for drug screening, biomarker discovery, and functional genomics. The classification and global distribution of these biobanks reflect a growing international effort to standardize protocols and broaden accessibility,

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  12. Precision medicine in colorectal cancer: genomics profiling and targeted treatment

    Adi Muradi Muhar, A. J. Velaro, A. T. Prananda, et al. · 2025 · Frontiers in Pharmacology · 13 citations

    Precision medicine has revolutionized the treatment of colorectal cancer by enabling a personalized approach tailored to each patient’s unique genetic characteristics. Genomic profiling allows for the identification of specific mutations in genes such as KRAS, BRAF, and PIK3CA, which play a crucial role in cell signaling pathways that regulate cell proliferation, apoptosis, and differentiation. This information enables doctors to select targeted therapies that inhibit specific molecular pathways, maximizing treatment effectiveness and minimizing side effects. Precision medicine also facilitates adaptive monitoring of tumor progression, allowing for adjustments in therapy to maintain treatmen

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  13. “Different names for the same thing”? Novelty, expectations, and performative nominalism in personalized and precision medicine

    Ilaria Galasso, Sone Erikainen, M. Pickersgill, et al. · 2024 · Social Theory & Health · 12 citations

    This paper explores the complementary and contrasting uses of the terms ‘personalized medicine’ and ‘precision medicine’ in denotations of a biomedical approach attentive to individual specificities that harnesses genomics and other data-intensive profiling technologies. Drawing on qualitative interviews conducted with biomedical experts in the context of the Precision Medicine Initiative in the United States and the 100,000 Genomes project in the United Kingdom, we read definitional reflection and debate through the lens of the sociologies of expectations and novelty. We observed two key aspects in the shift from ‘personalized medicine’ to ‘precision medicine’ that has been especially preva

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  14. Multi-Omics Integration in Personalized Medicine: Advancing Laboratory Diagnostics and Precision Therapeutics in the Era of Individualized Healthcare

    T. Ikwelle, Augustine Chinedu Ihim, D. Ozuruoke, et al. · 2025 · Journal of Drug Delivery and Therapeutics · 12 citations

    Personalized medicine is revolutionizing healthcare by shifting from a one-size-fits-all model to a tailored approach that considers individual genetic, molecular, environmental, and lifestyle factors. This review comprehensively explores the role of personalized medicine in laboratory diagnostics and patient management through the lens of emerging omics technologies such as genomics, transcriptomics, proteomics, metabolomics, and pharmacogenomics. Each omics domain offers unique insights into disease mechanisms, drug response, and biomarker discovery, enabling more accurate diagnoses, targeted therapies, and improved treatment outcomes. While genomics and pharmacogenomics focus on the genet

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  17. Precision Medicine as a New Frontier in Speech-Language Pathology: How Applying Insights From Behavior Genomics Can Improve Outcomes in Communication Disorders.

    Beate Peter, Laurel Bruce, L. Finestack, et al. · 2023 · American journal of speech-language pathology · 7 citations

    PURPOSE Precision medicine is an emerging intervention paradigm that leverages knowledge of risk factors such as genotypes, lifestyle, and environment toward proactive and personalized interventions. Regarding genetic risk factors, examples of interventions informed by the field of medical genomics are pharmacological interventions tailored to an individual's genotype and anticipatory guidance for children whose hearing impairment is predicted to be progressive. Here, we show how principles of precision medicine and insights from behavior genomics have relevance for novel management strategies of behaviorally expressed disorders, especially disorders of spoken language. METHOD This tutoria

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  19. BMC3PM: bioinformatics multidrug combination protocol for personalized precision medicine and its application in cancer treatment

    Majid Mokhtari, Samane Khoshbakht, Mohammad Esmaeil Akbari, et al. · 2023 · BMC Medical Genomics · 7 citations

    Abstract Background In recent years, drug screening has been one of the most significant challenges in the field of personalized medicine, particularly in cancer treatment. However, several new platforms have been introduced to address this issue, providing reliable solutions for personalized drug validation and safety testing. In this study, we developed a personalized drug combination protocol as the primary input to such platforms. Methods To achieve this, we utilized data from whole-genome expression profiles of 6173 breast cancer patients, 312 healthy individuals, and 691 drugs. Our approach involved developi

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  20. From genomics to clinic: the transformative impact of AI in pharmacogenomics and personalized medicine.

    Anantha Lakshmi Jakka, Ripsy Merrin Chacko, Mallikarjun Vasam, et al. · 2025 · Pharmacogenomics · 6 citations

    At the crossroads of genomics and pharmacology, pharmacogenomics is revolutionizing healthcare by tailoring drug therapies to individual genetic profiles thereby reducing the risk of adverse drug reactions and propelling the field of precision medicine forward. This review delves into the role of pharmacogenomics in uncovering genetic variations, including single nucleotide polymorphisms, that affects how drugs are metabolized and effective. Artificial intelligence (AI) has ameliorated the discovery of biomarkers and the drug development process; enabled real-time clinical decision-making, expanding the possibilities of personalized medicine. AI-powered models, especially in machine learning

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  22. Applications of machine learning and deep learning in precision medicine: Opportunities and challenges in genomics, oncology and clinical integration (Review)

    Qiang Zhao, Guangxin Li, Kunpeng Du · 2025 · Biomedical Reports · 3 citations

    With the advancement of precision medicine, machine learning (ML) and deep learning have increasingly become a pivotal tool for driving medical innovation. Precision medicine, grounded in individual variability, aims to deliver personalized treatment interventions, with ML serving as a critical enabler for achieving this goal. Recent ML-driven progress in genomic analysis, personalized treatment optimization and disease diagnostics have significantly elevated the accuracy and efficacy of medical decision-making processes. However, the widespread adoption of artificial intelligence also faces multifaceted challenges, including data privacy frameworks, cybersecurity risks, ethical consideratio

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  23. Modern Medical Genetics and Genomics in the Era of Personalized/Precision Medicine

    Israel Gomy · 2019 · Modern Medical Genetics and Genomics · 2 citations

    Modern medical genetics as a well-defined field of medicine has developed so fast since its origins half a century ago that we cannot bear in mind how long time ago its roots and beginnings came from. It can be argued that genetics overall was based on measuring the problems of human hereditary features and inherited diseases, since before the twentiethcentury acceptance of Mendelian laws of heredity. Thus, medical genetics, viewed from its broadest perspective, is perhaps the oldest area of genetics and not a recent area that it is sometimes believed.

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  24. Advances in Personalized Medicine: Integrating Genomics and Precision Therapeutics

    Xiaoyu Qian, Jia Liao, Yu Fang · 2024 · Medicine Insights · 1 citations

    Personalized medicine represents a transformative approach to healthcare by tailoring medical treatments to individual patients based on their genetic, environmental, and lifestyle factors. This review explores the integration of genomics and precision therapeutics in personalized medicine, highlighting technological advances, applications, challenges, and future directions. Key findings include the significant impact of high-throughput sequencing, bioinformatics, artificial intelligence, and targeted therapies in improving patient outcomes. Despite existing challenges, the future of personalized medicine looks promising, with emerging technologies paving the way for more effective and indiv

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