Estudios genéticos en Hospital Clínico de Zaragoza se multiplican por diez con Comisión Genética.

The genetic studies at the Lozano Blesa University Clinic Hospital in Zaragoza have increased tenfold since the beginning of the Genetic Commission. The new technologies of massive sequencing (NGS), the increased knowledge of the genetic bases of many diseases, and the specific training of medical professionals in this field have led to a significant increase in these studies in recent years.

At the University of Zaragoza Clinic Hospital, approximately 400 studies were requested in 2013 when the Center Commission began its journey, and over 4,000 were conducted in 2024.

In other words, the number of requests multiplied by ten after the establishment of this agency, which works to organize this type of study and ensure that patients receive appropriate medical advice.

A few years ago, many of these genetic studies were sent to external laboratories, but currently, over 90% are conducted in the public health system of Aragon, largely due to the implementation of NGS techniques.

These techniques allow for studies on rare diseases, which require a broad approach because the genes involved in these pathologies can be numerous. Since the incorporation of these techniques at the clinic hospital, 190 children with rare diseases were studied, and 63 cases of different diseases were diagnosed.

The Genetic Commission at Lozano Blesa celebrated on Wednesday, April 2, after its days focused on genetic and hereditary diseases, where relevant cases were discussed regarding the common cases of different pathologies seen in the day.

During the session, the current status of the process of creating the new genetic specialty was addressed, as well as clinical cases of pediatric, oncological, gynecological, endocrinological, and ophthalmological pathologies, along with the approach of the genetic laboratory, which interprets the variants detected in such studies, with the increase in this type, Art.

Additionally, this year saw the participation of Dr. Pablo Lăpunzina, a specialist at the Genetics Service of the University Hospital of Paz and director of the Biomedical Research Center of Ciber for Rare Diseases.

FUENTE