The scientific community continually searches for ways of detecting potentially serious illnesses before they strike and precipitate significant illness or even death. One specific action gaining traction is known as next-generation sequencing.
What is Next-Generation Sequencing?
Next-generation sequencing is a form of technology enabling scientists to study genetic components or entire genetic structures like DNA and RNA.
The Process
Next-generation sequencing is completed over a multi-step process including:
Library Construction
The operation’s first phase involves the creation of a sequencing library from the collection of genetic material to be explored. Once the sample has been obtained, said material is divided into sections called fragments. Fragments are then placed in the appropriate sequence. A grouping of sequenced fragments is formerly known as a library.
Clonal Amplification
In order to improve the genetic material’s signal during the sequencing process, aforementioned samples must undergo clonal amplification. Completing this procedure requires each individual library fragment be bound to a solid surface. This enables scientists to create cloned replicas of each fragment.
Library Sequencing
This process is executed using specialized tools and involves stages beginning with the creation of a single strand of genetic material, the detection of a solid base, and concluding with the removal of reactants that could adversely impact said substances or interfere with clinical investigations.
Data Analysis
Next-generation sequencing undertakings result in the accumulation of significant amounts of complex data. The analysis process is divided into three phases, primary, secondary, and tertiary.
Primary analysis is derived from the signals genetic materials give off, which are then processed by specialized equipment and formulated into digital data. Secondary analysis is the stage in which collected information is read, sorted through, and filtered. The final or tertiary leg is where researchers interpret results and offer hypotheses or assertions based on their findings.
Associated Benefits
Since its inception in 2007, next-generation sequencing, which is sometimes abbreviated as NGS, has been highly touted because it provides numerous benefits.
Studying genetic material had been performed prior to NGS. However, such endeavors enabled scientists to only examine small quantities of genetic material at one time. NGS’s advent allows said medical professionals to study and sequence many millions of genetic fragments during the same period.
Such capabilities save the scientific industry time and a great deal of money. The Human Genome Project, which was the first endeavor involving any type of human genetic sequencing lasted for a decade and cost an astonishing $3 billion. NGS allows a single genome to be sequenced in a single day at less than $5,000.
From a practical standpoint, many researchers maintain that NGS will prove revolutionary in finding better treatments and potentially cures to serious, potentially fatal illnesses, such as cancer, diabetes, and mental health disorders. Moreover, said scientific endeavor might also help the medical community find more suitable therapeutics for pathogenic diseases caused by bacteria and viruses.
Who Performs NGS?
Typically, NGS is executed by highly trained scientists like geneticists and bioiformatic specialists. Fortunately, developing technology enables this work to be performed in locations like hospital laboratories and research institutions.