Why is Molecular Diagnostics Critical Today?
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Why is Molecular Diagnostics Critical Today?

Alex D'Souza, Healthcare Tech Outlook | Tuesday, May 17, 2022

For several decades, the medical world has acknowledged the relevance of molecular diagnostics, and this subject is particularly critical in cancer care.

FREMONT, CA: Molecular diagnostics investigates how these genes and proteins are interacting inside a cell. The focus is on gene and protein activity patterns in distinct types of malignant or precancerous cells. Molecular diagnostics uncovers these sets of alterations and captures this information as expression patterns. Also dubbed "molecular signatures," these expression patterns enhance the clinicians' capacity to identify cancer and propose more targeted therapy based on an individual’s molecular profile.

The role of gene analysis in molecular diagnostics

DNA microarrays, colloquially referred to as "gene chips," enable researchers to simultaneously monitor the expression of hundreds or thousands of genes. A DNA microarray is a small chip that contains thousands of single-stranded DNA fragments belonging to various genes of interest that have been put into microarray "spots."

A single microarray may have 10,000 or more spots, each containing DNA fragments from a distinct gene. Even better, a single gene chip can store representative pieces from the whole human genome.

The role of protein analysis in molecular diagnostics

Molecular diagnostics assess proteins’ form, function, and expression patterns in cells, tissues, or organisms. The research aims to uncover proteins implicated in malignant development when normal cellular pathways support it. Some of the proteins required for regular communication are damaged, inactive, hyperactive, or absent totally in malignant cells. The complete set of proteins affecting cellular communication varies by cancer type and patient with that form of cancer.

The finding that the human genome has much fewer genes than previously believed has shifted the attention to the importance of proteins, not genes, in conferring biocomplexity on an organism. Proteomics is critical for understanding health and disease since proteins are considered one step closer to biological activity than genes, and their examination gives a more direct link.

To make proteomics effective in molecular diagnostics, many fundamental biological concerns must be addressed, beginning with understanding the 'normal' protein architecture in a cell and then how and why this architecture breaks down in cancer.

Additionally, the application of proteomics to molecular diagnostics faces two significant obstacles.

The first and most challenging task is to identify and analyse relevant tumour markers.

The second goal is to build portable, sensitive, and accurate tools for use in clinics.

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