New system will detect 26 diseases in newborns

New system will detect 26 diseases in newborns
New system will detect 26 diseases in newborns

The Neonatal Research Program The project, which has been carried out at the San Juan de Dios Hospital for over 30 years, seeks to strengthen child health care, with a focus on quality, efficiency and effectiveness, especially in preventing disabilities and improving the survival of newborns.

Neonatal screening is a preventive public health activity for detect diseases early metabolic, endocrine and genetic which, without diagnosis, can cause serious harm or death to the child. It is a complex process that generates a lot of data and requires monitoring the newborn to confirm the disease and begin treatment.

To carry out this research, Chilean regulations require having a computer system that records birth data and processes samples. Until 2017, there was no such system on the national market, so the San Juan de Dios Hospital decided to test, purchase and improve a system to manage samples and results, and thus automate the process, improving security and data backup.

This computer system was created and recently patented in conjunction with the Bernardo O’Higgins University (UBO) at the German Patent and Trademark Office (DPMA).

The patent, created by UBO and the hospital, is called Laboratory Sample Management System, and allows efficiently handle samples in neonatal testing. This system offers a unique solution for handling samples, analyzing results and generating reports in the neonatal laboratory, thereby improving the results of the Neonatal Screening Program.

“This system can be the pillar of the national database of rare and orphan diseases that does not exist in the country”points out the Dra. Midori Sawada, director of the San Juan de Dios Hospital.

Currently in Chile, by law, only two neonatal diseases are detected (congenital hypothyroidism and phenylketonuria) that, if not discovered in time, cause mental retardation. The system patented in Germany will allow Expand this research and detect another 24 diseasessuch as alterations in amino acids, fatty acids, galactose, biotinidase, 17 hydroxyprogesterone and cystic fibrosis, among others. These conditions can lead to severe disabilities and even death, and are currently not available for screening in the public system, according to the director.

The Laboratory Sample Management System will be used in 11 regions in Chile, covering more than 80 maternity wards throughout the country, which represent 70% of babies, or about 110 thousand newborns per year. It will also improve the quality of detection of medical conditions and facilitate early diagnosis thanks to its efficient processes.

This is the first patent made by the San Juan de Dios hospital, which, according to the institution, will improve the care of its youngest patients and consolidate its leadership in the implementation of advanced technologies in public health.

The UBO provided comprehensive advice on the management of this patentfrom the initial review of the process to obtaining the international patent through the German Patent and Trademark Office (DPMA). This process, explains this university, not only protects intellectual property, but also promotes technological transfer and economic development both nationally and internationally.

Dr. Claudio Ruff, rector of the UBO, says that this achievement represents a significant advance in the hospital’s mission to generate a positive impact on society through innovation and research. “We are excited about the opportunities that are opening up for our students and academics in terms of learning and professional development,” said the rector.

Rector of Bernardo O’Higgins University, Dr. Claudio Ruff, together with the director of San Juan de Dios Hospital, Dr. Midori Sawada Tsukame, and the dean of Medical Sciences at UBO, Dr. Jorge Rodríguez, and authorities from both institutions in charge of patenting the system. Photo: UBO

The technical director of the National Reference Laboratory for Neonatal Research at the San Juan de Dios Hospital, Susana Valdebenito, stressed the importance of strengthening this tool, highlighting that the expansion of the Neonatal Research Program in Chile from two to 26 diseases, including rare and infrequent pathologies, was recently announced in the Presidential Public Account. “Therefore, with this software it will be possible to recover data and consolidate a national database,” he added.

She also noted that this software could be shared with similar programs in Latin American countries, improving their processes and significantly promoting children’s public health.

Finally, Rector Ruff highlighted that, in addition to finalizing the patent, both entities signed a specific research agreement, which is the result of a strategic cooperation in which the Faculty of Medical Sciences of the university will actively participate.

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