Personalized Medicine: Decoding the human genome and its medical implications

Every person on this planet has a unique genetic makeup.
Comprehensively, this whole genetic makeup is called a person’s genome. Sequencing is the technology that determines the precise order of nucleotide in a person’s DNA.



This technology allows us to analyze and decode a person’s genome. Scientists were first able to sequence and analyze all the genes in a human genome through The Human Genome Project in 2003. This large-scale project has been a breakthrough in medicine because today, we can refer to this huge database of all genes a human can possibly possess and compare to an actual human genome. With this technology, scientists are now able to sequence and decode a patient’s genome in order to diagnose and treat diseases. This method of medicine is called personalized medicine.

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Recent research has caused a breakthrough in personalized medicine. Through personalized medicine, doctors can now diagnose and treat patients with more accuracy and precision. To utilize personalized medicine in disease treatment, first, we need to sequence a patient’s genome. There are different ways to sequence the human genome. Sequencing an individual’s genome can be done using the same technology that forensic scientists use to find culprits for a crime. First, a DNA sample from the patient is taken through blood or skin tissue. With the sample, scientists can sequence the patient’s genome as well as compare it with a database to identify mutations and disease-causing genes. Different methods of sequencing such as PCR, Sanger Sequencing, RNA-Seq, and ChIP give us different information about a patient’s genome.

Depending on the disease or nature of diagnosis, doctors can recommend patients to sequence whole or parts of their genomes. Once diagnosed, doctors can specifically target the mutation or disease-causing gene to alleviate or eliminate symptoms. As of now, specific drugs are being developed to target disease-causing genes and by stopping such genes from acting, scientists are now able to use sequencing to treat diseases such as Leukemia, Cerebral Palsy etc.

Personalized medicine has many benefits. Knowing the patient genome gives the opportunity to deliver accurate drugs depending on the mutations or genes that cause the disease. Personalized medicine allows for accurate diagnosis of chronic and genetic diseases such as cancer, lupus and cerebral palsy. Knowing one’s genome can also give information on what drugs and drug dosages can be the most effective to a patient. This reduces the risk of drug side effects or overdose. For example, certain individuals have no effect on common anti-inflammatories such as Ibuprofen or paracetamol. Personalized medicine can identify these individuals and prescribe them alternate medicines.

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Although there are many advancements in personalized medicine, conventional medicine is still the main approach to disease treatment due to a lack access to such facilities. Only a few countries in North America and Europe are practicing this revolutionary kind of medicine. It is especially inaccessible in developing countries such as Bangladesh. Despite the slow transition into clinics, personalized medicine shows promise in the near future. Biotech companies such as Illumina are making sequencing technology cheaper and more available. Further research is however needed to utilize application methods so that an individual’s sequenced genomes can be used for treatments. Since sequencing, depending on the type, can take anywhere from a few days to weeks, personalized medicine is impractical to approach in medical emergencies.



If patients have their sequence information readily available and take preventative measurements, personalized medicine can eliminate health emergencies altogether. This is, however; not applicable for accidents such as car collisions.
Personalized medicine is paving the way for the future of medicine. With new technology to optimize sequencing and being able to decode the human genome further, we can truly understand how diseases work and how to effectively treat them. With novel technologies such as CRISPR, in the future, we can potentially even edit and correct patient genomes to treat diseases. Although it seems too far-fetched of an idea to imply in developing countries, we need scientists and health practitioners to advocate for and make personalized medicine more of a reality worldwide.

Written by- Nowshin Tabassum

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