Discussing the impact of genomics on medicine Before we learn the effect of genomics on medicine, we must first know what genomics is. Now to know about genomics, we need to know a few concepts. The area that is involved with the sequencing, as well as the analysis of an organism’s genome, is genomics. The entire DNA content that is present in a cell of an organism is genome. Every single cell in the body constitutes almost 3 billion DNA pairs. Almost the entire part of genomics is concerned with the sequence of molecules that constitutes the genomic deoxyribonucleic acid (DNA). The DNA sequence is present in a chromosome of an organization and it is made up of four bases namely, thymine, guanine, adenine and cytosine. One or more than one of such chromosomes are found in each of the cells of an organism.
The unit of heredity known as genes are found in a chromosome and genes are transferred from a parent to their children. Genes carry the instructions that are required for creating a specific protein or a set of proteins. These proteins are responsible for making up body structures such as organs and tissues. They also carry signals between the cells and regulates the chemical reactions. The human ailment is connected to our genes. Doctors were only able to study genes or genetics in cases of birth defects and few other diseases such as sickle anemia. Anemia had predictable inheritance patterns that are caused by the change in genes. With the advancements of data from the studies conducted such as the Human Genome Project, scientists have discovered more powerful tools that help in understanding the impact of environmental and genetic factors on more complex diseases. The majority of health problems in the United States includes cardiovascular diseases, cancer and diabetes. The Genome-based researchers conducted by medical researchers is helping in developing unique diagnostics and improved strategies, better decision-making tools for the patients and approaches which are evidence-based for clinical efficacy. As discovered, the treatment of a particular patient will be based on the patient’s genomic makeup. Genome-wide association studies (GWAS) is the new area of genetic and genomic research and its main aim is to identify common genetic factors that directly affect health and diseases. These kinds of study have the potential to understand the genetic factors that might ultimately affect human health. The study will also help in improving treatment, diagnosis and screening. A new project has been announced by Japan so that genome sequencing can be used to help patients with various rare diseases. The initiative named as the Initiative on Rare and Undiagnosed Diseases (IRUD) will conduct a genome sequencing and analysis on patients that do not have a medical diagnosis and who might have a unique disease.
This initiative by Japan is similar to the project by the UK named Deciphering Developmental Disorders project. This project is aimed at using genome sequencing technologies so that genetic causes of childhood disabilities can be identified. There are a number of rare diseases which are genetic in origin. The genome sequencing is expanding these groups as very rare and unique harmful genetic variants are linked with specific medical conditions. This will increase the importance of the event of sharing information about diseases with healthcare providers internationally. A major challenge is faced by Japan as they have limited number of experts in the field of clinical genome and sequencing and analysis. The demand for genome
testing is increasing even in other countries such as the US. The people who cannot access testing via their insurers are resorting to the crowd-funding method of accessing genome-based sequencing and analysis.
According to Rare Disease UK, 75% of rare diseases affect children and 30% of such cases dies before their fifth birthday. The genome-based research has enabled medical researchers to formulate improved diagnostics, effective therapeutic strategies and decision-making tools. The role of genomics in healthcare is important and it is changing with time. There is also progress in the field of pharmacogenomics. Pharmacogenomics is the branch of genomics that is concerned with the effect of therapeutic drugs on an individual. With the application of pharmacogenomics, compounds can be screened with very limited variations. Once the target gene is chosen, the compound that can work well with all the subtypes will also be selected. The drug selection is then substituted for patient selection thereby decreasing the uncertainties of patient selection. Genomics can also play a vital role in ascertaining the adverse effects before the drugs are available on clinics. Pharmacogenetic data are important to the time of developing a compound that has a narrow therapeutic index or that has been metabolized from a pro-drug. Such information affects the decision of continuing the development or design trials so that the clinical responses of individual polymorphic can be studied. The various stages of drug development are benefitted by pharmacogenomics. It will also affect the trail design through improved inclusion and exclusion and after the assessment of patient responses. Genes that are linked with drug metabolism can be genotyped in the patients who are recruited for phase I trials. Patients can be screened out based on preclinical studies. The data that are collected during the phase I trials, can be typed in to assess the possibilities of any side-effects or the variations in drug response. Such analysis can also move on to phase II trials thereby enabling companies to undertake phase III trials. These resultant drugs are expected to have a safety profile with better efficacy.
Therefore, the method of patient segmentation and individual profiling is likely to become important. The pharmacogenomics analysis will help in customizing the use of pharmaceuticals for only a specific subgroup of patients. Some of the drugs work better in one patient than in others. Pharmacogenomics will help in determining the drug efficacy for a particular patient as well as the side-effects that might be caused due to the difference in drug metabolism. Such information can also be used to recover failed drugs with the method of repositioning them for the defined set of patients. The knowledge of the genetic basis for drug disposition and response will make it possible to choose medications based on the ability to metabolize and respond to particular drugs. Therefore, it might even be possible to replace the current trial and error-based selection. This will be an important advance particularly for diseases where months or years of treatments may get involved to obtain a positive response. There are very few platforms which facilitate genetic clinical research for the purpose of personalized medicine. PatientMD is one such platform which aims to give back to the society by facilitating genetic clinical research by providing patient data of interested candidates to the research labs with the help of its “Help� token. This will ensure that the patient data is secure with the clinical lab and will facilitate the lab in the research purpose to get a better outcome. Modern genetics will seek to enhance the significant improvements in the practice of healthcare with the process of redefining disease and targeting treatment. It will also result in the discovery of novel targets and treatments. Within a few years, the real impact of genomics can be felt in clinical medicine. It might become possible to combine genetic information along with other factors such as smoking, lack of exercise so as to accurately ascertain the chance of developing serious heart disease. Therefore, it can be concluded that the role of genetics in the world of
healthcare is changing profoundly and it is covering a vast area. It must, however, be noted that in order to move discoveries from the laboratory to a medical clinic takes time, effort and funds. As stated by the biotechnology experts, more than a decade is required for a company to conduct the studies that are required to obtain approval from the Food and Drug Administration.