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We all are made from the information coded in our genes. Whole genome sequencing is an emerging lab process which reveals the complete DNA sequence or make-up of an organism at a single time, thus enabling us to understand different variations within an organism, as well as between different organisms with precision.
The very first Human Genome Project was started in 1990, and completed in 2003. Human genome sequencing has become much more efficient nowadays and a person’s sample can be sequenced in just a matter of few days. At present, most genetic testing focuses on one or a couple of genes instead of the whole genome.
With its declining cost, genome sequencing is being pursued by more and more people. This helps doctors to predict how an individual will respond to a particular treatment. The doctor may study an individual’s unique genetics to look at genes involved in drug metabolism while deciding any drug dosage. This will thus help to develop personalized treatment plans for everyone in the future.
The Impact Of Whole Genome Sequencing (WGS) On Healthcare
The information obtained via whole genome sequencing can help to create a more complete clinical picture of a patient’s conditions. A good example is a recent study that was conducted on 188 families with a genetic history of brain developmental disorders, such as autism, intellectual disabilities, and epilepsy. Researchers initially screened out the families with obvious gene mutations related to the disorder, leaving 118 other families. When the genes of all the individuals from 118 families were sequenced, the scientists found that there were certain gene variations which the affected family members had but others didn’t.
In other words, diagnosis based on WGS suggested a different condition than the medical records. The study found that almost 10 percent of the cases of the brain and nerve disorders were misdiagnosed, thus concluding that genome sequencing will be a more reliable diagnostic tool to understand and treat a whole range of genetic diseases.
Whole-Nation Genome Project: Iceland
Iceland became the first nation to sequence the genomes of its entire population. This helped researchers to identify genetic mutations linked to a number of diseases like thyroid disorders, liver disease, Alzheimer’s, and cancer, and also focus on knockouts (when a working copy of a gene is missing) which are considered to be valuable in understanding the pathway to any disease in individuals.
The study showed that there were around eight percent of Icelanders with knockouts although it does not mean that all of them are prone to any type of disease. There is some level of built-in redundancy in the human genome that allows some genes to lose their function without impacting a person’s overall health. This also explains why a particular disease can make one person sick while another person may remain unaffected by the same condition.