Personalized medicines

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…