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What is Molecular Diagnosis?

by Uneeb Khan

Molecular imaging technologies are at the core of many nuclear medicine procedures. Molecular imaging agents are used from single photon emission computed tomography (SPECT) to positron emission tomography (PET), ultrasound and magnetic resonance imaging (MRI) technologies.

The evolution of molecular imaging has become one of the cornerstones of molecular medicine since it is a combination of functional images with structural images so that molecular processes in vivo can be identified and located spatially. The patient is often injected with an imaging contrast dye that binds to specific biological proteins. Through molecular imaging, clinicians can pinpoint exact locations of disease in the body and track the progression of prescribed therapies and their effectiveness. Contrast agents that highlight disease sites can also be used to deliver medications to those sites.

ACADEMY, the DPT Foundation, and ZEV Biotech, with the support of the subsidy obtained from the Soluciona Program belonging to the Ministry of Productive Development, created this new initiative to federalise the access of their SMEs to molecular diagnosis. 

Thanks to the IRIS genomic platform developed by ZEV Biotech will allow you to access training, technology and diagnostic services through genetic profile analysis.

The training and training laboratory in molecular diagnosis set up by CADIME, which has the technology developed by ZEV Biotech, allows partner SME clinical analysis laboratories to access a technology that until now was only possible for large companies.

molecular biology or molecular diagnostics

Molecular biology or molecular diagnosis explains biological phenomena in molecular terms. This term is often used to describe and apply biochemical techniques (proteomics, genomics) to diagnose certain diseases and guide them in more personalised treatments. 

The Molecular Diagnosis of DNA/RNA, since 2021, has allowed the development of Genomic Personalized Medicine through the analysis of genetic profiles. This diagnosis allows the analysis of genetic variations in DNA/RNA to apply it to the identification and characterisation of:

Diseases with a Genetic Base (genes that determine Parkinson’s, Hereditary Thrombophilia, Alzheimer’s, among others)

Pharmacogenomics. For example, the analysis of mutations in the EGFR gene to evaluate the efficacy of treatments with certain drugs in patients with lung cancer.

Pathogenic Microorganisms:  includes both the diagnosis of the presence of the pathogen (for example, HIV, tuberculosis, N1H1 flu, human papillomavirus, etc.) and complementary analysis of their characteristics  (for example, type of strain, resistance to drugs, virulence, etc.) as well as the features of the patient to evaluate the progression and the best treatment. Molecular Biology revolutionises diagnosis and impacts health.

In recent decades, biological methodologies have been developed with enormous medical potential.

Dr Irma López Rodas, Director of the Clinical Laboratory of the Medical Center Hospital, points out that the methodologies through Molecular Biology consist of the detection and specific quantification of the genetic material of a microorganism (virus, bacteria, parasite, fungus) in a sample biological (urine, faeces, sputum, CSF, blood), causing a significant impact in all areas of health, especially in infectious diseases and cancer.

For his part, Juan Pablo Arocha, Business Manager of Kron, SA, points out that “in a typical scenario, where a person consults a doctor because they have symptoms of an illness, the professional requests laboratory tests for their diagnosis. Depending on the symptoms of the probable disease. If the test comes back negative, he usually asks for a second test, and so on until he can find a result that can identify the cause of the infection.”

According to Arocha, this process not only represents a frustrating situation for the patient but also takes more time to make clinical decisions and has a negative economic impact associated with the administration of inappropriate treatments, as well as, in some cases, the unnecessary hospitalisation of the patient.

This is where Molecular Biology gains an advantage over the traditional clinical laboratory, points out López Rodas, who adds that these new molecular methodologies allow the detection and identification of multiple pathogens associated with clinical syndromes to be achieved through a single test, for example, the respiratory panel detects 20 microorganisms simultaneously, 17 viruses and three bacteria, while the Gastrointestinal panel detects 22 microorganisms in a single test: five viruses, six genera of parasites and 11 types of bacteria.

“The implementation of this type of panel represents a great advantage over traditional methods, providing the possibility of quickly detecting the true cause of an infection, allowing critical decisions to be made such as the correct selection of the antimicrobials to be administered, the possible isolation or the admission of a patient, among others”, explains Arocha.

Regarding the benefits patients obtain thanks to Molecular Biology, Arocha mentions that conventional diagnostic methods such as immunofluorescence (IIF) are being replaced by Molecular Biology techniques that can detect and identify the microorganism causing the infection with very high precision, sensitivity and reliability.

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