This was an essay I wrote for my Molecules in Medical Sciences course to answer the question: Briefly describe the use and benefits of genomic medicine in treating disease. I enjoyed researching it and thought it would be informative for my readership to share it on this platform. Enjoy and do get in touch if something in here interests you!
Genomic medicine is the study of all genes and their interrelationships in order to identify their combined influence on the health of individuals and populations. Unlike genetics which focuses on the study of a single gene in organisms, genomics is the study of the entire genomes made possible due to recent advances in technology allowing rapid whole genome sequencing using increasingly cheaper and portable analytic devices, and initiatives such as the 100,000 Genomes Project and, more recently, the COVID-19 Genomics Consortium. Genomic medicine has the potential to quicken the pace of improving patient outcomes and scientific advances in medicine, some of which are already being realised in practice. This essay will explore the use and benefits of genomic medicine in understanding diseases, assessing risk, preventing illness, and developing better therapies, all of which are contributing to the development of treating disease with precision medicine.
Sequencing the genomes of patients can facilitate research which can improve our understanding of disease processes. The ability to rapidly interrogate genetic variation across whole genomes can allow scientists to understand rare diseases by discovering more genetic variants. Furthermore, investigations into interactions between genes can take place, exploring phenomena such as Pleiotropy, the nature of which requires examining relationships between genes and the resulting impact on calculating the risk of an individual developing certain illnesses. An increasing burden on healthcare services in the developed world are non communicable diseases such as myocardial infraction and diabetes. Such illnesses are complex to treat due to the relating disease progression with the environment and their polygenic nature. Genomic medicine offers the tools to begin to understand the heritable nature of developing risk factors such as high LDL or obesity which are associated with such conditions. Furthermore, areas of research interested in the nature of ethnic difference amongst populations and. their health outcomes, can be further addressed, the potential of which can be far reaching to provide a better understanding of racial difference in disease which can influence more scientifically robust clinical practice to improve outcomes for BAME patients.
Genomic medicine also has the potential to increase the accuracy of calculating risk, from a small scale, such as done by an oncologist for their patient, to a larger population wide level. Screening tests, such as prenatal screening, risk stratified cancer screening and newborn screening provide information to clinicians that can be used to inform healthcare plans that are tailored to individuals. For example non invasive prenatal screening tests are used to screen expectant mother’s blood to determine whether their baby has Downs Syndrome ( the most reliably predictable condition) or other conditions such as Edward’s or Patau’s Syndrome. Nationwide screening programs, such as the Fetal Anomaly Program, can provide data to form population profiles which can better inform the allocation of funding and resources to areas of public health services. Furthermore they can also contribute standardised data to open databases, which can be used by researchers to improve the quality of their research- needless to say this has the potential to benefit patients in the future.
By analysing risk effectively, genomic medicine can allow clinicians to intervene earlier and put in place a preventative therapeutic plans with their patients. Bringing genomic medicine into primary healthcare settings is becoming more realistic with the innovation of smaller portable laboratory devices, allowing more consistency in correctly identifying a condition. Also the increasing availability of consumer genomic testing may accelerate the rate by which general practice integrates such tests into data collection, allowing such services to be accessed more readily. Furthermore, the rising field of epigenomics can reconfigure the way we think about impacting disease progression through lifestyle choices by providing a ‘new paradigm for disease etiology and basic mechanisms in toxicology and evolution not previously appreciated’ (Skinner) .
Finally, genomic medicine can be used to develop better treatments and therapies. Sequencing the genomes of viruses and bacteria can allow scientists to identify different strains and develop potential medications or vaccines to treat them. Particularly useful for finding solutions for pressing issues such as antibiotic resistance or COVID-19 vaccine. Furthermore genomic sequencing can allow identification of patient zeros therefore providing more precise epidemiological information which better equips public health services to develop policy and implement preventative measures. Furthermore, pharmagenomics is a burgeoning field which requires the growth of genomic medicine as it provides information allowing us to understand the heritable nature of patient’s react to drugs- particularly useful in the development and prescription of cancer treatments.Eventually this has the possibility to move away from one drug treats all to more precise synthesis and distribution of drugs to different patient populations.
To conclude, the role of genomics is becoming more profound in medicine as the field moves towards a more precise, personalised approach to treating disease. As outlined in the essay there are a plethora of uses for genomic medicine, however as they stand currently, there are ethical and logistical factors that must also be addressed comprehensively ,such as the role of genetic counselling and methods of biometric data storage, going forth if we want to realise all the benefits that genomic medicine has the potential to offer to improving patient outcomes.
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