Precision medicine has emerged as a transformative approach to healthcare, leveraging advancements in genomics, data analytics, and personalized treatments. Case studies have played a pivotal role in unraveling the potential of precision medicine. Through the analysis of individual patient profiles, these studies have showcased how tailoring medical interventions to a person's unique genetic makeup, lifestyle, and environmental factors can yield superior clinical outcomes. The authors present a selection of compelling case studies that exemplify the successes and challenges encountered in the pursuit of precision medicine. Furthermore, the integration of cutting-edge technologies has significantly accelerated progress and also by drawing on real-world case studies and the latest technological innovations.
Top1. Introduction
Precision medicine is an innovative approach that uses information about an individual's genomic, environmental, and lifestyle information to guide decisions related to their medical management. The goal of precision medicine is to provide a more precise approach for the prevention, diagnosis, and treatment of disease (Delpierre & Lefèvre, 2023). Precision medicine, also referred to as personalized medicine, is a strategy that aims to customize medical decisions and interventions based on unique patient characteristics. (Akhoon, 2021).
To provide targeted treatments that are more effective and have fewer side effects, several factors must be considered, including genetics, environment, lifestyle, and therapeutic biomarkers (Akhoon, 2021). This approach has gained significant attention in various fields of medicine, including oncology (Döhner et al., 2021), nutrition (de Toro-Martín et al., 2017), immunology (Blass & Ott, 2021), genomics (Shendure et al., 2019), liquid biopsy (Wu et al., 2021), organoid technology (Artegiani & Clevers, 2018; LeSavage et al., 2022), clinical trial design (Park et al., 2020), mental health (Dwyer et al., 2018), rheumatology (Mobasheri & Batt, 2016), autoimmune bullous diseases (pemphigus/pemphigoid) research (Bieber et al., 2020)and regenerative medicine (Takahashi, 2019).
The use of biomarkers to pinpoint patients who will respond to particular treatments the best is a crucial component of precision medicine. Protein expression levels, genetic mutations, and other molecular characteristics that are connected to disease progression or therapeutic response can all serve as biomarkers. Clinicians are better able to choose the best treatments for specific patients based on their individual traits by identifying these biomarkers. Precision medicine has transformed the landscape of cancer treatment by focusing on particular genetic mutations or molecular pathways that enhance oartumor growth. For instance, targeted treatments for acute myeloid leukemia (AML) have been created based on gene mutations, such as FLT3 and IDH1/IDH2 inhibitors. When used alone or in conjunction with other treatments, these targeted therapies have demonstrated promising outcomes in clinical trials (Döhner et al., 2021)
A non-invasive technique for finding circulating tumor DNA or other biomarkers in the blood has emerged: liquid biopsy. This method enables the identification of resistance mechanisms, real-time monitoring of tumor dynamics and treatment response. To inform treatment choices and track the course of the disease, liquid biopsy has been applied to several of cancer types, including colorectal, lung, and breast cancer (Wu et al., 2021)
Organoid technology has provided a valuable tool for studying patient-specific tumors in vitro. Organoids are three-dimensional cultures derived from patient tissues that can recapitulate the genetic, proteomic, morphological, and pharmacologic features of the parent tumor (LeSavage et al., 2022). These models have been used to study tumor heterogeneity and test drug responses in a more clinically relevant setting (Artegiani & Clevers, 2018).
Precision nutrition is another area where personalized approaches are applied. By considering individual factors such as genetics, metabolism, and dietary habits, researchers aimed to develop tailored nutritional interventions for the prevention and management of metabolic syndrome (de Toro-Martín et al., 2017). Advances in nutrigenomics, metabolomics, and microbiota profiling have provided new insights into how diet can impact an individual's health outcomes [(de Toro-Martín et al., 2017)].
Clinical trial design has also evolved with the advent of precision medicine. Basket trials and umbrella trials are examples of innovative trial designs that aim to identify biomarker-matched subgroups of patients who will benefit most from targeted therapies (Park et al., 2020). These designs allow for more efficient evaluation of multiple hypotheses within a single trial framework.