Genomics is one of the most promising areas of health care. As of 2022, more than 20 years has passed since the completion of the Human Genome Project, one of the most important scientific research projects in human history. Since then, due to the various advancements made in the field, a vast amount of genomic data has been generated.
In the past couple of years, with the emergence of HealthTechs specializing in genomics, obtaining information on an individual’s genetic setups has become way more accessible. Genomic medicine techniques are entering more and more hospitals and health care facilities. It’s certain that the trend of incorporating genetic information to better target and treat rare and chronic diseases is here to stay.
In the next couple of chapters, we give you a quick overview of the top areas of genomics used in health care:
An increasing number of HealthTechs offer direct-to-consumer (DTC) genetic testing. It provides information on an individual’s genetic setup, physiology and risk for medical conditions. The process usually goes as follows: You order a test kit to your home, according to the instructions you collect saliva and send back the sample to the company. After examinations, you receive your personal report online.
“Pharmacogenomics is a field of research that studies how a person’s genes affect how he or she responds to medications”. This field also belongs under precision medicine, and its long-term goal is to treat patients with the adequate drugs and doses based on their individual needs. Therefore, pharmacogenomics has the potential to improve patient safety, health care costs and efficiency.
Genomics & Artificial Intelligence
In order to analyze and understand hidden patterns in the vast amount and complex genetic data sets, researchers increasingly apply computational methods in their projects, such as artificial intelligence (AI). This allows researchers to interpret genomic data quicker and turn it into actionable insights. Two subfields of AI, machine learning and deep learning are the most often used technologies.
Precision oncology is the molecular profiling of tumors, that allows for the creation of a treatment plan based on a patient’s genetics. Its premise is that there is no “one size fits all” treatment, especially as cancer is an extremely heterogeneous disease. Precision oncology is an emerging field that is used more and more in traditional oncology practice.
Experts estimate that there are more than 26 million people worldwide who have completed their genetic ancestry testing. This is made possible by the increasing number of DTC companies offering this service. Genetic ancestry provides information about an individual’s ancestral roots and geographic origins. It can also give valuable insights for the risk assessment of some heritable conditions.
Genome editing is a method that allows scientists to modify the genes of many living organisms. It can be used to correct, introduce, or delete almost any DNA sequence. This can lead to making changes in physical traits and to prevent and treat diseases in humans. Thanks to various new methods, genome editing has become a faster, cheaper, and more efficient process. The most known technology is called CRISPR-Cas9, that is more customizable and cost-effective than other methods.
What Does The Future Hold?
It is certain that the most attractive promise of genomic medicine is the possibility for fully personalized medical patient treatment. However, experts suggest that for adequate medical treatments, information from genomic data in itself is insufficient. It should be taken into consideration together with other lifestyle factors (such as eating and sleeping habits, living conditions, daily habits). Additionally, the various innovations in genomic medicine, especially in genome editing, also brought up a number of ethical and safety concerns, that need to be addressed before the real-life adaptation of these techniques.
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