Molecular Diagnostics refers to Laboratory medicine or laboratory test
to identify a disease by analyzing the DNA or RNA or their Protein in Human.
The Molecular Diagnostics era began at the time of discovery of double
helical DNA structure in 1953 by Watson and crick.
In the mid-1980s, southern blot transfer hybridization assay was in major
part of molecular diagnostic laboratories, technical armamentarium for current
an application such as detection of gene deletion in Duchenne and muscular
dystrophy and repeat expansion in fragile X syndrome. Originally southern blot
was primarily used in linkage analysis for cystic fibrosis and other genetic
diseases.
The southern blot assay became a gold standard test was used to detect
many human gene sequences by the use of specific restriction endonuclease, and
also used for mutation detection and gene arrangement. GenProb Inc. became the
first US Company to provide the FDA approved probe-based diagnostic test for
the detection of infectious agents (Chlamydia trachomatics and Neisseria
gonorrhea).
While many laboratories were using various forms of blotting technique
to make their entry into the molecular diagnostic arena, the limitation of
these technologies were with respect to sensitivity, specificity, and turnaround
time.
The molecular revolution had begun in October 1990 when the Human
Genome Project took off. It is important because it used information from
DNA to develop new ways to treat, cure, or even prevent the thousands of
diseases that afflict humankind.
A major milestone in the early 1990s was the transition of the
polymerase chain reaction (PCR) from the research laboratory to clinical
laboratory.
But the road from gene identification to effective treatment is long and
fraught with challenges. In 1990-2003 the 13 years of long journey has
successfully completed the human genome project as a result of this development
of genomics into human health treatment; the field of genomics medicine has
born. All diseases have molecular component the success of Human Genome Project
has enabled researchers to pinpoint errors in genes, the smallest unit of heredity
that cause or contribute to disease
Research laboratory introduced an era of genomics as a molecular
diagnostic to the physician for better understanding the disease on molecular
level and make a personalized health
The technological advancement will continue to play the important
journey in the Practice of medicine, public health, Pharmaceutical industry to
get a personalized medicine and forensics science.
Some of these genomics technologies include DNA Sequencing, Microarray,
polymerase chain reaction (PCR), Fluorescent in situ hybridization (FISH),
Karyotype, Peptide nucleic acids (PNA), and electrochemical detection of DNA,
Nanotechnology and Proteomics. Most of the application is for infections but
are now in the area of increasing genetic disorder, pre and postnatal
diagnostic, Pre-implantation genetic screening and cancer.
In the forthcoming years, molecular diagnostics will continue to be of
critical importance to public health care. A large number of molecular-based
tests are available to assess DNA variation and changes in gene expression.
However, there are many rounds about to overcome before the implementation of
these tests in clinical laboratories, at present, PCR-based testing prevails, however, alternative technologies aimed at exploring genome complexity without
PCR is anticipated to accelerate in the coming years. Furthermore, the development
of integrated chip devices (“lab-on-a-chip”) should facilitate genetic readouts
from single cells and molecules. Together with proteomic based testing, these
advances will improve molecular diagnostics and will present additional
challenges for implementing such technology in public or private research
units, hospitals, clinics, and pharmaceutical industries. An increasing number
of FDA Approved genetic tests are available commercially.
Future of Molecular Diagnostics: The ultimate goal in healthcare over the next decades will be the
amalgamation of molecular diagnostics with therapeutics. Experts believe that
in less than a decade, people will be able to have their own genomes sequenced
at a very cheaper rate. This is going to involve sequencing technology that is a
lot cheaper and faster than today’s machines.
A person may appear at the clinic for treatment, can ultimately be
translated in a patient being able to carry a DNA chip with its entire genome,
like an ordinary credit card, such DNA chip can be constructed by blood
a sampling of the individual, sequencing of the functional DNA, and finding the
genetic variations in the genes. Provided that this person is diagnosed
accurately for specific mutations, alleles, or even polymorphic changes pertaining to a specific disease, then
his or her response to treatment can be vastly improved. Therefore, gene-based
disease management and treatment, incorporating molecular analysis, will be
able to predict the efficacy, and at the same time the safety, of a specific therapeutic
product. Relevant efforts have been already in progress for Alzheimer’s
disease.
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