Illumina
MiSeqDx …there is a lot of excitement among
physicians and researchers about this medical device clearance by US FDA. This
is a compact DNA sequencer …..And has the potential to make the personalized
medicines a reality.
The DNA sequencers will enable physicians
to take a comprehensive look at a patient’s genetic blueprint to search for a
wide range of variations or changes that increase risk of disease, drive the
disease process, and/or affect response to medications and other treatments.
Such information has the potential to benefit patients in many ways.
Personalized
medicines - “A form of medicine that uses
information about a person’s genes, proteins, and environment to prevent,
diagnose, and treat disease.” – National
Cancer Institute, NIH
The concept of personalized medicines is
not new as over the period it is been observed that patients can respond to
various medicines very differently. Throughout history, the practice of medicine has largely been reactive.
Even today, we have to wait until the onset of diseases and then try to treat
or cure them. And because we don’t fully understand the genetic and
environmental factors that cause major diseases such as cancer, our efforts to treat them are often
imprecise, unpredictable and ineffective.
Personalized
medicines involve uses of two medical products – a diagnostic device and a
therapeutic product. For example, an oncologist might
use results of a sequencing scan to choose the chemotherapy drug that is most
likely to work.
Unique genome details, RNA sequencing which
provides information about alternative
gene spliced transcripts, post-transcriptional modifications, gene fusion,
mutations and changes in gene expression are some evolving technologies show a silver line for
personalization of medicines.
Personalized
medicine may change future healthcare cost and patient care in several ways
like, shift the emphasis in medicine from reaction to prevention; predict
susceptibility to disease, improve disease detection, preempt disease
progression; customize disease-prevention strategies; prescribe more effective
drugs and avoid prescribing drugs with predictable side effects; reduce
the time, cost, and failure rate of pharmaceutical clinical trials, and eliminate
trial-and-error inefficiencies.
For example, the drug, Ivacaftor is for the patients with a specific genetic mutation
which causes Cystic fibrosis (CF) – a disease that impairs lungs and digestive
system. Ivacaftor works by helping to
restore the function of the protein that is made by the mutated gene. It allows
a proper flow of salt and water on the surface of the lungs and helps prevent
the buildup of sticky mucus that occurs in patients with CF and can lead to life-threatening
lung infections and digestive problems. There are hundreds of known mutations
that can lead to CF and out of that Ivacaftor targets one such mutation in
patients…so there is lot to achieve on this pathway…
