Precision medicine based on genomic sequencing is a medical model that analyzes an individual's genome to understand disease and health states and to develop personalized treatment plans. It is a critical field combining biotechnology and medicine in recent years, with several significant current developments and trends.
First, genomic sequencing technology has made immense progress recently. Due to technological advancements, the time and cost of genomic sequencing have been significantly reduced, making large-scale, high-throughput genomic sequencing possible. This not only allows us to gain a deeper understanding of the human genome but also makes personalized genomic sequencing feasible.
Second, precision medicine via genomic sequencing is applied across many fields. For example, in cancer treatment, genomic sequencing can identify gene mutations in cancer cells, enabling the selection of the most suitable drugs for therapy. Additionally, genomic sequencing is used for the diagnosis of rare diseases and to understand individual drug responses to avoid adverse side effects.
However, precision medicine based on genomic sequencing also faces challenges. For instance, how to process and interpret vast amounts of genomic sequencing data is a major issue. Furthermore, the results of genomic sequencing involve personal privacy and ethical concerns, requiring appropriate laws and policies for regulation.
Regarding future trends, we foresee that precision medicine based on genomic sequencing will become more widespread and a mainstream approach to medical diagnosis and treatment. Simultaneously, with technological progress, we may develop faster and more affordable sequencing technologies. Moreover, we will gradually understand more correlations between genes and diseases, thereby providing more accurate diagnoses and treatments. Finally, we must address and resolve related ethical and legal issues to ensure the healthy development of precision medicine based on genomic sequencing.
On Tuesday, August 8, 2023, from 10:10 to 12:00, Vice President Chien-Kuo Chang of China Medical University Hospital gave a lecture at Asia University, Room A502,
discussing the current status and trends of precision medicine from the following perspectives:

1. From targeted sequencing, Whole Exome Sequencing (WES), and Whole Genome Sequencing (WGS) to comprehensive analysis: With the emergence of high-throughput sequencing technology, precision medicine has evolved significantly. Initially, targeted sequencing was used to analyze specific genes of interest. Then, WES was introduced, allowing for the sequencing of all protein-coding genes in the genome. Today, WGS is used to capture the entire genome, including non-coding regions, providing a comprehensive view of an individual's genetic makeup. This progress has led to the discovery of previously unknown genetic variants and a deeper understanding of disease pathogenesis.
2. From the human genome to all genomes within the human body: Precision medicine is moving beyond focusing solely on the human genome to consider the genomes of all organisms within our bodies, including bacteria, viruses, and other microorganisms. This shift recognizes the critical role of the microbiome in our health and disease states.
3. From WGS for rare variant analysis in Genome-Wide Association Studies (GWAS) to cross-macro comprehensive analysis: Initially, WGS was used alongside GWAS to identify common genetic variants associated with diseases. Now, precision medicine is shifting toward a more comprehensive "cross-macro" approach that integrates genomics, transcriptomics, proteomics, and metabolomics data. This aims to provide a more holistic view of disease mechanisms.
4. From clonal hematopoiesis to somatic mutations in normal tissues: Recent research shows that somatic mutations, once thought to be limited to cancerous tissues, can also occur in normal tissues. This understanding is changing our perception of diseases such as cancer and is expected to have a significant impact on early detection and treatment strategies.
5. Liquid biopsy for disease diagnosis, early detection, and health assessment: Liquid biopsy, which analyzes circulating tumor DNA or other biomarkers in body fluids, is revolutionizing disease diagnosis and monitoring. They provide a non-invasive and real-time method to detect diseases, such as cancer, at an early stage and monitor treatment response.
6. Clinical application of single-cell sequencing: Single-cell sequencing is a powerful tool in precision medicine, enabling the analysis of genetic and epigenetic variations at the single-cell level. It provides unprecedented resolution in understanding the heterogeneity of diseases like cancer and can help design personalized treatment strategies.
7. Clinical application of CRISPR technology: The emergence of CRISPR technology has opened new possibilities for precision medicine. CRISPR allows for precise gene editing, potentially enabling the correction of gene mutations that cause disease. Clinical trials are currently underway to evaluate the safety and efficacy of CRISPR-based therapies for a range of diseases.
   Predicted future research directions for this center: 1. Using AI to provide diagnostic reports more rapidly. 2. Fusion and analysis of multi-modal data. 3. Analyzing and identifying more clinical symptoms.