Medically reviewed by Susan Kerrigan, MD and Marianne Madsen on February 2, 2023
Additions/comments provided by Surya Singh, MD
Genes have been called the building blocks of life–and for good reason. The tiny strands of deoxyribonucleic acid (DNA) in every human cell contain, on the most basic level, the billions of lines of code that produce individual attributes and, ultimately, make up the organism in which they reside. Their continued and correct reproduction has long since been proven the most basic process by which a living thing continues to survive. It should come as no surprise, then, that researchers turn to the foundation of the body to understand how to treat the rest of it.
The complete copy of an organism’s DNA is called its genome, and, in humans, it is arranged into 23 chromosome pairs that are reproduced every time a cell divides. This reproduction ensures that the cells in a body contain the same genome and will act and divide in the same way.
Because it governs cell behavior, the genome can be studied to understand cell misbehavior as well. A malfunction on even a single gene can lead to serious medical issues – hemophilia, sickle cell anemia, cystic fibrosis, and Duchenne muscular dystrophy are all examples of monogenic disorders, caused by a single gene malfunctioning. Polygenic or complex disorders exist as well, where the issue appears either on multiple genes or has external contributing factors; these include such chronic conditions as hypertension, diabetes, and osteoarthritis.
According to the National Human Genome Research Institute, the ability to visually identify faulty genes and compare them against a table of known genetic disorders is critical to rapid diagnosis and treatment of many diseases. A study conducted by the same institution, known as the Human Genome Project, was completed in 2003 and assembled a sizable database of genomes to provide a baseline for future researchers to compare and contrast genetic samples and pick out chromosomal deformities before effects begin to manifest.
Using this database, researchers have been able to prove the genetic origin of far more diseases than originally thought to have a genetic basis. While it had been thought that a limited number of clearly hereditary syndromes were genetic in nature, medical practitioners the world over are now able to locate the genomic origins or contributions of a number of other maladies as well. Studying the genetic sequence of a patient can assist clinicians in developing a more accurate diagnosis and plan of treatment; while there are many possible causes of a symptom or a finding on radiologic imaging, a deformity in the patient’s DNA is often used to find a direct causal relationship.
Like most of medicine, the end goal of genomic analysis is to help individuals prevent issues, improve health, and successfully treat the diseases that afflict them–not merely to find their origins for the sake of knowledge. By precisely identifying and treating for the consequences of variants in the patient’s genome that either directly cause or predispose that patient to developing a certain condition, practitioners can manage or cure conditions once thought irreversible in a manner both more lasting and complete than current medicine allows. In some instances, using genetically-based interventions to cure a condition may also mean the end of chemical or radiological treatments that, while often effective, have sometimes proved so damaging to the rest of the body that patients refuse them.
Though the Human Genome Project and subsequent studies went a long way towards completing our understanding of the genome, genomics as a science continues to expand and evolve with every year. New methods and tools for analyzing the genome and applying genomics to the world at large are in continual development, promising the world a future of genomics-powered medical treatments that will far outshine older, chemical-based medicines and treatments in both cost and effectiveness.
