For the duration of the 21st century, next generation sequencing (NGS) has transformed the way scientists approach research into diseases, treatments and vaccines.

Sparked by the transformative impact of the Human Genome Project, which began in 1990, innovative technologies continue to drive better sequencing practices, more accurate and precise results, and solutions to some of the world’s most debilitating illnesses.

Here’s a look at some of the key milestones in technology advancements related to NGS.

1998 – Nucleic Acid Amplification

This method, developed by scientists at the Geneva Biomedical Research Institute, allowed for greater functionality in sequencing, screening, diagnosis the monitoring of gene expression and nucleic acid fingerprinting. It’s considered a major development that led to future NGS technologies.

2000 – Massively Parallel Signature Sequencing

This technique allowed for in-depth profiling by analyzing the expression levels of nearly all the genes in a sample. It does so by counting the individual mRNA molecules that are produced by each gene. It allowed for creation of complete datasets to help in experiments at the dawn of digital biology.

2004 – Pyrosequencing

The Roche GS20 was the first platform introduced to the marketplace and was launched three years later. Pyrosequencing was different from the traditionally used Sanger sequencing techniques. It detects luminescence when pyrophosphates are released on nucleotide incorporation, opposed to chain termination with dideoxynucleotides. The technology revolutionized the work of DNA sequencing because it could produce as many as 20 million base pairs of nucleic acids that pair together, creating another rung on the DNA ladder.

2014 – HiSeq X Ten

This new technology claimed it produced the first $1,000 genome for human whole-genome sequencing, but neglected the millions of dollars in investments needed to reach that milestone. The $1,000 threshold had become a key milestone for the industry, with many companies striving to be the first to reach the mark.

The solution combined 10 instruments that delivered more than 18,000 human genomes annually. The underlying technology, developed by Illumina, created the first genome at 20x coverage, the first genome sequenced in one day and the first cancer genome. The system provided large throughputs using synthesis chemistry and clustering that ensured that ensured a single DNA template would bind and form a cluster within a well, resulting in optimal data output.

2018 – Reduced Costs for Sequencing

Veritas Genetics, which had also reached the $1,000 genome price point, lowered its price to just $199 for the first 1,000 buyers who wanted a personalized genomic profile.

The company was one of the first to offer a consumer version of sequencing. Initially the price was $999 and included a phone app and on-demand genetic counseling. Today, many companies, including 23andMe and Ancestry, offer consumer genetic profiling.

2019 – Beating Moore’s Law

Moore’s Law is a notion popular in technology that states that computing power doubles every two years. A similar model was used in DNA sequencing, with the cost of fully sequencing the human genome halving every two years. When NGS began in earnest at the turn of the century, the cost was $100 million, but by 2011 had dropped to $10,000.

The National Human Genome Research Institute, which tracks the cost per genome, noted that the price of the NGS process dropped to $942 in 2019, beating Moore’s Law.

The Future

Scientists and researchers have urged continued reductions in the time and cost of NGS. One such technology under active development is third generation sequencing, which can sequence single DNA molecules without amplification.

Given the transformational impact of NGS on identifying causes of disease and treatments, the interest in advancing NGS technology will undoubtedly continue.