Related Experiment Video
Updated: Feb 24, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Human genomics projects and precision medicine
F Carrasco-Ramiro1, R Peiró-Pastor1, B Aguado1
1Centro de Biología Molecular Severo Ochoa (CBMSO) CSIC-UAM. Genomics and Next Generation Sequencing Service. Campus de Excelencia Internacional (CEI) UAM+CSIC. Nicolás Cabrera 1, Madrid, Cantoblanco, Spain.
Abstract:
The completion of the Human Genome Project (HGP) in 2001 opened the floodgates to a deeper understanding of medicine. There are dozens of HGP-like projects which involve from a few tens to several million genomes currently in progress, which vary from having specialized goals or a more general approach. However, data generation, storage, management and analysis in public and private cloud computing platforms have raised concerns about privacy and security. The knowledge gained from further research has changed the field of genomics and is now slowly permeating into clinical medicine. The new precision (personalized) medicine, where genome sequencing and data analysis are essential components, allows tailored diagnosis and treatment according to the information from the patient's own genome and specific environmental factors. P4 (predictive, preventive, personalized and participatory) medicine is introducing new concepts, challenges and opportunities. This review summarizes current sequencing technologies, concentrates on ongoing human genomics projects, and provides some examples in which precision medicine has already demonstrated clinical impact in diagnosis and/or treatment.
Related Concept Videos
Pharmacogenomics: Identification of New Drug Targets
Genomics
Pharmacogenetics and Pharmacogenomics: Overview
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

