Personalized Medicine

Personalized Medicine aims to improve disease prevention and treatment by taking into account patients’ molecular, environmental and lifestyle information, in addition to clinical data. It involves bringing genomic testing into routine practice for virtually all medical specialties.

Genomic test results have potential implications for the sequenced individual, their family and future generations. It is important to define consent processes by which patients can choose how their data is used and protected.

Personalized Medicine and Omic Technologies

For the development of such a personalized therapeutic approach, individuals need to be characterized at the molecular level. Genomics, Proteomics and Metabolomics technologies enable the simultaneous study of all the genome, the proteins and the small molecules of a sample, respectively.  

The sequencing of a person’s genome is emerging as a clinical tool for some conditions and is replacing other molecular tests. Recent technological advances now enable us to decipher the sequence of all the 3 billion DNA bases of our genome in a few days and at a reasonable cost. However, the analysis and interpretation of a person’s genome is challenging, as it contains around 3–5 million genetic variants compared with the human genome reference sequence. Only a few of these variants might be true pathological mutations that are relevant for a specific clinical condition. Therefore, Personalized Medicine requires big data approaches for the storage, analysis and interpretation of large amounts of genomic, lifestyle and clinical data.

The Personalized Medicine Landscape

In cancer patients, the mutation profile of tumors is increasingly being used in clinical settings to define the most effective treatment. Furthermore, genomic sequencing of the tumor-derived DNA present in the patient’s blood can replace tissue biopsies and allow early diagnosis and treatment response monitoring.

Whole genome or exome sequencing is becoming the standard diagnostic approach in many hospitals for patients with suspected genetic disorders. In rare diseases, genomic analyses have increased diagnosis yield up to 60% and enable the provision of prenatal diagnosis to their families. There are around 7,000 different rare diseases, each of them affecting less than 1 in 2,000 people. The majority of rare diseases are estimated to have a genetic origin, directly caused by mutations in genes or chromosomes.

Specific pathogenic agents responsible for infectious diseases can be effectively detected via genome sequencing. The tests can identify the pathogen’s strain or subtype, facilitating infection control and public health responses.

Finally, although our knowledge of the underlying genetic basis of common chronic diseases, such as asthma and diabetes, is still poor, there are some clinical settings where testing for some genetic variants can identify high-risk individuals. Pharmacogenomics or the study on how genes affect a person's response to drugs will be essential to provide more effective treatments with less side effects.

Platforms for Omic Technologies

The OmicsTech platform at CNAG provides state-of-the-art DNA sequencing to more than 30 Spanish hospitals. Applications include, among other, sequencing of the whole genome or sequencing of specific gene panels. The whole operation is certified with ISO:9001 and accredited with ISO:17025 and ISO:27001.

In the near future, the characterization of all the proteins and small molecules of an individual will be vital to link the genome to personalized medicine. The COS and the CRG/UPF Proteomics Unit offer high throughput platforms for these assays.

Platform for data analysis and data sharing

Researchers at CNAG have worked during several years to develop a platform to support clinicians to integrate genomic data effectively into the practice of medicine. The tool is called RD-Connect Genome-Phenome Analysis Platform (GPAP) and assists clinicians in analyzing and sharing rare disease patients’ genomic data. The platform already includes genomic data from several thousands of rare disease patients and allows matching of cases with similar clinical and genomic profiles from all over the world. It has enabled the accurate diagnosis of patients with congenital neuromuscular syndromes, intellectual disability, retinopathies and many others.

Participation in Personalized Medicine pilot projects

The CNAG participates in several projects on Personalized Medicine that aim to transfer the use of the latest genomic technologies into the routine clinical management of patients with cancer and rare diseases.

In the framework of the IMPaCT Genomics Medicine project, funded by the ISCIII, the CNAG has sequenced more than 1,000 samples from families with rare disorders from >20 hospitals across Spain.