Echandi Laboratories inaugurates New Generation Sequencing Unit that will analyze genetic information associated with cancer

Laboratorios Echandi became the first private laboratory in the country to have a New Generation Sequencing Unit (NGS) that will allow it to analyze information from genetic markers such as BRCA 1 and 2 genes, which are associated with cancer.

Read more: Genetic alteration is the main cause of ovarian and breast cancer

With the incorporation of this new service, of which it is also a pioneer in the region, Laboratorios Echandi seeks to be a facilitator in the implementation of personalized medicine, by favoring precision in the diagnosis of diseases and therefore in the treatment both in the country , as in Central America and the Caribbean, since the service will be provided in the region.

“It is about precision medicine and our objective as a laboratory is to make this medicine more accessible to patients, which allows us to locate that personalized treatment, where it is not the same medicine for all, but rather according to the needs and genetic characteristics of the patient. patient”, explained Ana Sittenfeld, coordinator of the New Generation Sequencing Unit of Laboratorios Echandi, who explained that 75% of the new drugs approved in 2021 by the United States Food and Drug Administration (FDA) for the treatment of cancer are directed to precision medicine.

Read more: Post Covid we will have the efficiency of digitized laboratories: Federico Echandi

NGS technology makes it possible to sequence the complete genome in record time and at a reduced cost. “Our expectation is to generate a great impact on health, making this test available to people, in a better time, since the test does not have to be processed abroad, it will be done in Costa Rica, and in a better cost than in the current market and that this helps to detect early if there is a high risk of breast, ovarian, pancreatic or even prostate cancer”, explained Federico Echandi, general manager of Laboratorios Echandi.

Laboratorios Echandi New Generation Sequencing Unit. Esteban Monge/The Republic

In fact, next-generation sequencing is recognized worldwide as it offers multiple opportunities for the prevention, diagnosis, treatment and monitoring of a wide spectrum of diseases and pathologies, this because it detects genetic abnormalities and analyzes diseases with high genetic complexity, such as case of cancer and hereditary diseases.

Another point of great importance is that having the genetic information obtained by sequencing can help in the detection of congenital diseases, to understand the sensitivity of each person to medicines (pharmacogenetics), to determine family relationships (paternity tests). , to carry out genetic ancestry analysis, to identify pathogens and to carry out microbiota analysis, among others.

The New Generation Sequencing Unit of Laboratorios Echandi begins, in a first stage, with the sequencing of BRCA1 and BRCA2 genes, for the detection of pathogenic mutations that have to do with the risk of hereditary breast and ovarian cancer and eligibility in the use of medicines, that is, being able to offer patients the possibility of seeing what their risk is and at the same time seeing what medicines they can use.

However, for the next quarter it will continue with an offer of a much broader panel, of 162 genes that have to do with hereditary cancers associated with various organs, to be able to offer the sequencing of several genes associated with lung cancer in September.

“In most cases, only the genes that have clinical relevance are analyzed, such as: in breast and ovarian cancer the genes of interest are BRCA1 and BRCA2, and in lung cancer one of the most important is EGFR, which codes for the receptor for epidermal growth factor. However, the trend is to move to larger panels; even having the patient’s complete genetic information opens many possibilities in the prevention and treatment of diseases associated with genetics”, concluded Guillermo Echandi, general director of Laboratorios Echandi.