Next generation sequencing - Tools and issues for human health

Since the first complete human genome was sequenced in 2003 using the Sanger method, high-throughput sequencing technologies—collectively known as NGS (Next-Generation Sequencing)—have continued to evolve. Sequencers that analyze short DNA fragments—which generate a very large amount of data at low cost and in record time—are gradually being replaced by sequencers that analyze long DNA fragments. These innovative machines are opening up new possibilities in both research and clinical settings. As a result, the traditional approach to medicine has changed significantly and is gradually shifting toward more personalized medicine. Among the many applications of NGS, human genome resequencing aims to decipher each patient’s genetic makeup to optimize the diagnosis and treatment of certain diseases.

This article will describe the most widely used sequencing platforms in 2025. It will then discuss three applications of sequencing in the healthcare field. The first will present the “France Genomic Medicine” initiative, in which several thousand human genomes are sequenced to create a detailed map of the genome. The second application, known as “metagenomics,” allows for the study of bacterial families present in our bodies. Studies have indeed shown a probable link between the proportion of bacteria present and certain diseases (diabetes, obesity, cancer, etc.). Finally, the last application focuses on single-cell sequencing. Thanks to technological advances, it is now possible to analyze cells one by one to characterize the heterogeneity of a tumor. However, next-generation sequencing still faces challenges, such as managing the data it generates.

How can storage solutions be adapted to these developments? What are the current methods for analyzing and interpreting all this information? Finally, access to human genome sequences raises a number of ethical questions. Should patients be informed about conditions for which no treatment is available? What are the risks? How can this data be protected? What level of confidentiality should be maintained? These are all questions raised by NGS that require answers.