Unearthing Genetic Disorders With Whole Genome Sequencing

From the time of Hippocrates, medical research has always focused on understanding the person who suffers from ailments. Hippocrates famously said – ‘it is far more important to know what person the disease has, than what disease the person has’. Over the course of hundreds of years this has been used to determine the most effective medication for individuals. The study of genetics is now helping the community to understand the genetic of individuals in an effort to pre-determine genetic disorders. Whole exome sequencing is regarded as a research altering breakthrough that determines human genetic makeup.

Next generation sequencing detects disease causing mutations

Next generation sequencing has made it possible to sequence large amounts of DNA permitting identification of variations in protein coding of all genes. This has now made it possible for researchers to quickly identify disease causing mutations by virtue of the ability to screen all the exome in a genome.  To put it in other words, the exome refers to all the exons in a genome and the ability to sequence the exome and by extension, the exons, next generation sequencing offers efficient methods to detect disease.

Genetic changes can be better identified with whole exome sequencing than selective gene sequencing. This is mainly due to the possibility to identify more changes, in whole exome sequencing. Though it is true that all variations may not actually have an impact on health, it helps in understanding the conditions that could be associated with other disorders. Advanced research uses the information to rule out certain conditions and thereby narrow the focus on the variant and its effect on health/disorder.

SNP genotyping offers whole genome data at cheaper costs

The measurement of the genetic variations, also known as SNP genotyping have found increased interest in pharmacogenetics. High resolution SNP genotyping has helped researchers to gain access to quantitative data at cheaper costs. This helps in surveying the whole genome or exome with higher accuracy.

The combined results of advanced research helps researches understand the link between genetic variations and health conditions, helping in diagnosing disease better, resulting in enhanced prognosis.

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