There are over 6000 types of genetic diseases that have been identified. These diseases can affect one organ, like the heart or brain, or the whole body. Genomic testing searches for changes in small sections to the size of the whole genome for mutations that lead to disease.
What does it mean when we say that sequencing “searches” for changes? The genome is composed of a long chain of code with each link translated to a unique letter of either A, C, G, or T. The code includes “genes” and other DNA elements that genomic scientists recognize as important for health of the cell and body.
BioAro is able to sequence multiple genes at the same time by using ‘next generation sequencing’ (NGS) or ‘massively parallel sequencing’. Once the DNA is sequenced the resulting sequences can be analyzed and risk of health conditions can be interpreted.
The genome is the entire DNA code of a person, which includes genes and other DNA. All of your chromosomes from both parents are considered and it includes ~3 billion bases.
While we have a lot of DNA code, not all of it encodes our genes. Only ~1-2 % of our genome is “coded” to make the genes that we are familiar with and these coded sequences are called the exome.
The sequences of the exome have the most recognized associations to disease but the remaining genome is also important. The future of genomic science in the next decade will be uncovering the secrets beyond the exome. Your health future will benefit from going big.
Though genome sequencing is more costly in both time and money to perform it is for good reason. With a genome sequence will be receiving 100x the amount of DNA sequence information than you would with exome sequencing. This allows you to future proof the information you have about your DNA and allows lifetime access to use this information to receive personalized healthcare. After you have passed away your genetic legacy will still be able to live on by enabling your future generations to access your DNA information and use it to learn about their own risks.
Will I still get future benefit from exome sequencing? YES! By getting your genome or exome sequenced you can provide your kids, grandkids, and further descendants with medical and genetic insights into their health. Genetic history can save future lives and enable preventative care. With exome sequencing you can still enrol in the genetic monitoring program (GMP) and receive updates when they are available for the sequencing information that you have.
Large scale sequencing (exome or genome) allows for more accurate analysis of your DNA sequence and expands the scope of analysis massively. Instead of looking at 100 genes for a handful of health conditions, we can look at 1000s of genes for any health condition. Our genetic analysis ensures your risk analysis for any disease is comprehensive and includes all relevant genes, not just the popular ones.