Any fact-finding exploration undertaken by the scientists in the medical domain has always roused our excitement. The discovery that there is only a minuscule amount of 0.1% of the difference in the DNA of our humankind is mind-boggling. From this genetic difference, I began to re-examine various perspectives of our lives and society from many standpoints. Sometimes, from a socio-economic stance that despite being so similar, i.e. 99.9% why are there so many issues like inequality, non-acceptance, etc. that many of us have witnessed. And most of the times, I have associated our difference to the phrase- “few differences can make a huge difference”. It depends upon how one interprets it.
For instance, I have always wondered how my friend has a slender figure even though we both eat a lot and almost never engage in any physical activity. Though it is a tactless example I’m not the only one wrapped in such thoughts. The answer is their faster metabolism rate. Similarly, the working of medicine, i.e. the pharmacokinetics, and the pharmacodynamics varies from one person to another. For example, the hepatic CYP2D6 enzyme plays a vital role in the process of metabolization and elimination of the quarter of the drugs prescribed to us. There is a significant variation in the effectiveness and quantity of CYP2D6 enzyme generated among people. For drugs metabolized by CYP2D6 (i.e., CYP2D6 substrates), some people will rapidly eliminate these medicines (ultrarapid metabolizers) while others will slowly eliminate these drugs (bad metabolizers). If a drug is metabolized too rapidly, the effectiveness of the drug may be reduced while toxicity may result if the drug is metabolized too slowly. Thus, the drug’s dose may need to be adjusted to reflect the speed at which CYP2D6 metabolizes it. The adjustments can be precisely done if there is a meticulous interpretation of the genetics of the individual. This is because we inherit our response to drugs. For example, some people are deficient of this enzyme. A CYP2D6 enzyme deficiency is inherited as an autosomal recessive characteristic; these individuals are categorized as poor metabolizers (7% of Caucasians, about 1% of Orientals).
At present, there are ceaseless developments that are taking place in the various divisions of biology and in technology. When these two fields are knitted together, it will bring about a revolution in the healthcare sector. The breakthrough of genomic medicine in the domain of oncology has taken us aback with its positive consequences. With the aid of big data analysis, genome sequencing has become a simple task. The first-ever complete genome sequencing in the year 2003 is a worthwhile step. It took nearly fifteen years and almost $2.7 billion to sequence the first genome (i.e. the human genome containing 3 billion base pairs).
If a comparison is to be drawn between the year 2003 and today, the cost of genome sequencing has drastically come down, i.e. close to a $1000 and the genome sequence is available in about four days. In further years, the present numbers might even reduce. The existing technology can pinpoint the misplaced base pairs or can identify any defect in the genome. If the disease is a known one, then the existing treatment and medication can be provided, but where the disease is not known or the treatment proves to be ineffective, then there is hope in the developing field of immunotherapy. The latter also seeks the assistance of technology to look into the proteins on the cells apart from the genetic sequence. This enables the ability to engineer a person’s immune system, i.e. after a series of cell profiling; the immune system can be targeted to attack the cells (here, tumor cells). This has made cancer a potentially curable disease and has restored smiles in several faces that have undergone the experience and also their family, friends, and close ones.
Apart from cancer treatments, pharmacogenomics can be adopted to other health-related issues in the prescription of drugs, treatment, etc. Setting-up a genetic database can realize this utopian, yet a practical dream. For example, the genetic database can be utilized to sort the existing drugs in accordance to the groups that should have access to it and also enlist the groups which should not, i.e. in the order of risks known and predictable. There is also an interesting chance to use the profound understanding of the disease genetics and its drug action to develop a new and even personalized genome-based drug.
When the physicians were asked what would they use genetics to prescribe drugs, their replies were all positive. But it was accompanied by a subsequent reaction that they do not have proper guidelines and do not feel educated enough to do it. There are many research groups today that are engaged in the purpose of implementation of pharmacogenetics. One such group is the Clinical Pharmacogenetics Implementation Consortium (CPIC). It is an international coalition of individual volunteers and a small committed team interested in enabling the use of pharmacogenetic tests for the patient are. One barrier to pharmacogenetic testing being carried out in the clinic is the difficulty in interpreting the results of genetic laboratory testing into implementable prescribing choices for affected drugs. The objective of CPIC is to tackle this obstacle to the clinical performance of pharmacogenetic trials by generating, curating, and posting free, peer-reviewed, evidence-based, updated, and comprehensive guidelines for clinical practice of genes/drugs. CPIC guidelines follow standardized formats, include systematic grading of proof and clinical suggestions, use standardized terminology, peer review, and are published in a leading journal (in collaboration with Clinical Pharmacology and Therapeutics) with concurrent posting to cpicpgx.org, where they are frequently updated. This consortium is gradually creating a drug/gene literature which will enable us to implement this routinely in clinical practice.
Many private organizations have endeavored to take this noble task of assuring an exciting future of pharmacogenetics, whereas the State is far behind the private sector. It is often said and is evident that the private sector prioritizes profit over welfare while the State exists for the welfare of the people alone. Hence, the State owes a responsibility to oversee and be a part of these new developments. Because the new features in the healthcare sector propose the creation of a genetic database which is highly potential to extract any health-related information of that person and also his or her family. Thus, it is significant to ensure the following issues that are of high concern-
- Whether the information will go to a safe database?
- Who will have access to the database?
- How to cope with the risks of privacy issues?
A warranted approach to ensure positive answers to the above-mentioned questions is the public-private partnership. State incorporation in such operations guarantees the protection and safety of the individuals for whom the entire activity is carried out and the private sector paves the way for competitiveness that eliminates monopoly and improves efficacy.