Science Series #2: Molecular Diagnostics


In 1990, the Human Genome Project (HGP) began with the primary goal of identifying the 20,000-25,000 genes in human DNA. Although this effort ended in 2003, it is still widely regarded in the scientific community as a monumental feat of coordination and discovery. The resulting information from this 13 year effort has provided a conceptual and technological foundation for a shift in medicine in the near future. Although the project has ended, the challenge of harnessing and applying the information still continues today.

(Source: Human Genome Project Information Archive)

Current diagnostic practices are based on visual indicators and laboratory tests. However, with the wealth of new information from the HGP, the idea is that diagnoses and treatments are definitive based on underlying molecular processes rather than visual indicators. Sifting through the 20,500 identified human genes and the 3 billion chemical base pairs that make up human DNA, can produce groundbreaking areas of study for the medical community at large. One emerging area is molecular diagnostics. (Source: Molecular diagnostics: a powerful new component of the healthcare value chain) (Source: Mayo Clinic)

Molecular Diagnostics

Molecular diagnostics is a field that merges molecular biology with medical testing. Techniques are used to analyze biological markers in an individual’s genetic code which can be used to diagnose and monitor diseases, detect risk factors, and decide which therapies might work best for each patient. By analyzing a patient’s genetic code and their disease, molecular diagnostics offers the prospect of personalized medicine. From the mapping of the human genome, a host of medical applications emerges.

(Source: Molecular diagnostics: a powerful new component of the healthcare value chain)

The basic idea is that from the well of information that is the HGP, new more detailed genetic information can be correlated to specific diseases. If a patient has a genetic variation that is consistently associated with a disease, a precise diagnosis can be made. However, a diagnosis is only productive if it is delivered in a precise and timely manner. With the recent progress in science technology, prompt diagnoses are becoming a reality. For example, the huge mass of data from the HGP has resulted in new bioinformatics tools that allow the molecular information to be applied to diagnostic practices. Such improvements in science technology parallel the leaps and bounds in the field of molecular diagnostics.

(Source: Molecular Diagnostics: A Revolution in Progress)

Currently and despite of its name, molecular diagnostics are used not only for diagnoses but for appropriate drug response as well. Personalized medicine is the idea of integrating diagnostics with therapeutics. However, drugs designed to fight a certain disease may react poorly with certain people. This is the principle of pharmagenomics: drug transportation and efficacy are based on the patient’s genetic code. With the draft of the human genome, it is now possible to analyze both the pathogenesis of the disease and identify drugs that compliment with the genetic code of the patient.

(Source: Pharmacogenomics: The Right Drug to the Right Person)

By Andrew Yang

Doing Our Part

The Jacinto Convit World Organization supports a free of cost molecular diagnostics program for the control and survival of patients affected by various types of cancers such as leukemia and solid tumors, and infectious diseases like the HIV, in developing countries. Through a strategic partnership with local NGOs, this program is directed to underprivileged and underserved patients that lack access to these specialized tests.

To date, 16 genetic sequences based on these diagnoses are published in GenBank, a world reference sequence database of the National Center for Biotechnology Information (NIH); contributing to scientific advances in molecular diagnostics.

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