The year was 2001, after over a decade of work and billions of dollars of investment the first human genome was sequenced. At the time it was only a futuristic vision that someone could have their genome sequenced to genetic diseases, to predict risk groups, to tailor personalized medicine specifically to the genetics of a patient. Today we are still not at that point, but genetic diseases and genetic risk groups are becoming much better understood due to large scale genome wide association studies (GWAS) that would have been impossible when the human genome was first sequenced.
Next generation sequencing (NGS) has greatly increased our understanding of diseases. Recently, a group at the Washington University in St. Louis uncovered a network of genes which contribute to Schizophrenia. The researchers performed whole genome sequencing on 4200 individuals with Schizophrenia and 3800 healthy controls to uncover 42 single nucleotide polymorphisms associated with an increased risk for Schizophrenia. This complex network can combine in different ways to produce the wide range of symptoms associated with Schizophrenia.
This advancement of our understanding of a complex and misunderstood disorder would not be possible without next generation technologies. More and more complex diseases, such as Schizophrenia, are only beginning to be understood due to the power of these technologies. These studies have been further simplified and become more reproducible due to high-throughput automated NGS library preparation capabilities.
Will the day come when we finally understand every single genetic disorder? Where a person’s genetic future can be mapped out at birth and medical care can be specifically tailored to that person for their entire life? Possibly, but we are still a long way off. Studies like this one will continue to pave the way to better understanding of our genes and how they interact with one another.