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What is personalized medicine and how does it work?
Recipe for every living creature is encoded in its DNA. Unique genetic combination inherited from parent determines phenotype of the newly created organism. DNA differences are smaller than expect. Out of 30.000 genes present in human genome, 99.9% is mutual for all humans and just 0.1% is unique and specific for each individual. That amount of genetic variability (genetic polymorphism) is responsible for wide range of phenotypical differences that exist in human population. Besides obvious physical differences, the way human body works is individual and specific. Metabolism, sensitivity toward one type of diseases and resistance toward others, effectiveness of given treatment or lack of its effect … are part of the genetic makeup that is unique for each person.

Medicine is developing faster than ever in the past couple of years. Slight genetic differences between people could provide useful information, accelerate treatment and reduce side effect of marketed drugs. Medical field focused on identification and utilization of the patient’s genetic and molecular background aiming to improve medical approach is known as personalized medicine.

Some disorders are genetically predisposed. Breast and ovarian cancers are associated with mutations in BRCA1 and BRCA2 genes. When family member is diagnosed with cancer, genetic testing could show whether altered gene is present (or not) in close relative. Specific mutations are associated with more or less aggressive type of the cancer. When genetic testing reveals “dangerous” form of gene, breasts or ovaries could be removed to prevent cancer development. Also, genetic testing could help determine which patients are suitable for chemotherapy, and which aren’t. It’s estimated that chemotherapy could be reduced by 34% if patients underwent genetic screening before treatment.

Pfizer has specially formed group focused on personalized medicine. Lung cancer statistics is not that bright. Recent experiments showed that life expectancy could be prolonged if genetic profiling is conducted prior therapy. Unselected cancer treatment (universal chemotherapy and radiation) during 5 years resulted in 6-15% survival rate (depending on the disease stage). Molecular targeting brought improvements in the field of lung carcinoma. Xalkori is non-small lung carcinoma selective drug that showed excellent results: partial or complete tumor response was noted in 60% of lung carcinoma cases and tumor shrinkage was noted in 90% of all non-small lung carcinoma cases. Also, life expectancy is prolonged.

Personal medicine provides useful information for physicians before prescribing the drug. Drug metabolism is controlled by various enzymes. Thanks to phenomenon known as single nucleotide polymorphism, expressed proteins could differ in one or more amino acids resulting in end product with different biochemical properties. When patient is familiar with its genetic polymorphism, doctor can prescribe certain dose or specific drugs that will be metabolized without serious side effects. Conventional approach of drug development (for the wide masses) is expensive and non-economic. Around 11 million dollars are spent every year for 15 new drugs that will induce more or less side effects (depending on the patient’s genetic profile) or prove to be ineffective for targeted disorder. Genetic identification of the patients would save money and time by pointing out the best therapeutic solution for each individual.

Number of drugs that are specifically tailored to fit patient’s genetic profile is increasing each year. From the 13 drugs marketed in 2006, number increased to 72 drugs of personalized medicine kind in 2011. 33 biomarkers are included in FDA's drug labels.

Personalized medicine is growing industry. Saliva is perfect source of DNA for the in-house testing. After delivering saliva to the specifically designed kit, it should be sent to a licensed laboratory for further processing. This method is not expensive and it is relatively fast (laboratory will send you results of genetic profiling in couple of weeks). Like every other medical innovation, this one couldn’t be implemented over the night. Not all doctors are thrilled that they will have to analyze another piece of paper prior prescribing the drug and some of them don’t find genetic profiling useful at all (16%). Electronic medicinal files are already in use in most hospitals over the world. By 2015, hospitals and healthcare professionals should collect as much molecular and genetic profiles as possible. Large (global) database could be used for targeted drug discovery and safer application of the already marketed drugs.
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In olden days medical technology is not developed this much, but today we are having lot of super specialty hospitals and great specialist doctors are available for us. So we can cure from this cancer easily.
Join With Envita Medical Center
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How are the moral and ethical considerations going to hinder the adaption of personalized medicine?
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