Personalized Genomics in Healthcare

What is personalized genomics?

Personalized genomics is an area of study within the field of genomics that focuses on sequencing and analyzing an individual's genome and developing a personalized medical treatment plan accordingly. A person's genome basically encompasses the entirety of his or her genetic information. Analyzing an individual’s genome can provide in-depth information about his or her physiology, susceptibility to disease, patterns of inheritance, and even ancestry. By uncovering this information, your healthcare provider can better understand your unique genetic makeup, take precautions to become aware of potential genetic risk factors, and even prematurely treat and decrease the risk of developing certain genetically transmitted diseases.

How long has personalized genomics been around?

The first individuals to ever have their genomes sequenced were James Watson, the co-discoverer of the DNA double helix structure, and Craig Venter, the founder of Celera Genomics. Even Steve Jobs paid $100,000 to have his DNA sequenced in 2011 when his pancreatic cancer relapsed, in hopes that his genetic data would help him find treatments better suited to treat his unique cancer pathology in the context of his own unique genetic makeup. Unfortunately, cancer treatment and personalized genomics at the time were not nearly as advanced as they are today. Unprecedented strides in the field of genomics have provided individuals the opportunity to sequence their entire genome or parts of it with the goal of understanding their potential health risks, living a lifestyle catered to avoid them, and being better prepared mentally and physically to deal with them if they arise. Not to mention, it costs much less to have your entire genome sequenced now than it did a decade ago. 

What are some applications of personalized genomics?

One of the most common uses for personalized genomics is to predict or confirm genetic diseases, such as breast cancer, specifically the type caused by the presence of a mutated BRCA1 or BRCA2 gene. Inherited breast cancer accounts for about 5 to 10% of cases worldwide. Being able to determine whether or not your genome contains a mutated BRCA1 or BRCA2 gene, especially in those with a family history of breast cancer, has changed the face of oncology. If a woman finds that her genome contains the mutant gene, she may decide to undergo a mastectomy to move any at-risk tissue, decreasing her chances of developing cancer in the future. Personalized genomics can also be used to guide couples who would like to have children. Genetic disorders can be very complex to track as they can result from chromosomal abnormalities, single-gene mutations, or multifactorial origins. Additionally, genetic disorders are passed down differently depending on their specific inheritance pattern. For example, autosomal recessive disorders only occur when two copies of a disease-causing gene are passed down to offspring (one from each parent). Autosomal dominant disorders, on the other hand, occur when just one copy of the disease-causing gene is passed down to offspring. There are also sex-linked genetic disorders that are passed down to offspring through the X and Y sex chromosomes. Although genetic disorders seem to pose a challenge for families at risk, personalized genomics has made it possible to keep track of disease-causing genes within families and gives those couples at risk of passing down a genetic disorder to their children more information to make healthcare decisions. 

In conclusion

Personalized genomics is growing to play a larger role in medicine and is already being used by various healthcare professionals, such as oncologists and geneticists. Even pharmacologists have started to take advantage of personalized genomics and can use your genetic data to uncover any drug sensitivities/allergies and determine which drugs are the most optimal and effective for you. With initiatives like the Personal Genome Project, which launched in 2005, more and more genetic data is being collected from volunteers worldwide, allowing research within the field of genomics to move at an accelerated pace. Personalized genomics has become a beacon of hope for individuals with a family history of fatal or debilitating genetically linked disease and will only expand in its applications within medicine as time goes on. 

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Author: Nawal Panjwani

Editor: Ospina Medical Team