The genetic testing industry has been growing rapidly over the past decade. The global Next-Generation Sequencing market is expected to reach USD 7.37 billion in 2022 and is estimated to grow at a compound annual growth rate (CAGR) of 16.1% from 2022 to 2030.

By increasing the genome sequencing programs, applications of NGS, and healthcare expenditure, the global NGS market is rapidly growing. But the most important contributing factor is the decline in the price of sequencing. This has focused the attention to the testing of rare diseases. The increasing need for early and rapid diagnosis has led to the bolstering of the market size.


Why the Whole Genome Sequencing cost dropped down rapidly?

The Whole Genome Sequencing cost quickly fell during the course of the Human Genome Project, and in the years that followed. The rapid drop is similar to the cost of computing power expressed through Moore's Law. However, the cost at that time was extremely high likely around $3 billion and the difference between being cheap quickly and being cheap enough to sequence many genomes seemed daunting.

However, in 2004, a new sequencing technology, Next-generation sequencing (NGS), became available and costs suddenly decreased. It is massively parallel method that can provide high speed and large scle squencing. The cost of a human genome sequence decreased from an estimated $1 million in 2007, to $1000 in 2014, and today it is approximately $600. As a result, the amount of data that the Big Genome Center can produce has increased dramatically. The number of related academic publications has also increased by more than 15 times between 2004-2014.

Whole Genome Sequencing cost 2023

Sequencing now is much cheaper. And the NGS market is characterized by extreme competition among the key market players. The major market leader Illumina, which controls about 80% of the global DNA sequencing market, unveiled the NovaSeq X series, which will reduce the cost to $200 per human genome while providing results at twice the speed. Illumina CEO Francis de Soza says that a more powerful model could sequence 20,000 genomes a year. (The current machine can sequence about 7,500 genomes.)

New companies are also trying to develop tests that cost less. Earlier this year, a startup company, Ultima Genomics, stated that its machine could sequence the genome for as little as $100, thereby applying pressure on Illumina. In response the Illumina CEO stated that more steps were required to reach the $100 genome mark, but the technological advances of the NovaSeq X series have brought Illumina much closer to that goal. Illumina will start selling theses new machines early next year.

Whole Genome Sequencing for rare diseases

Establishing a definite diagnosis for rare diseases is a major challenge for clinicians, and therefore significant healthcare expenditures are incurred worldwide. However, with the advent of NGS technology considerable research has been conducted in the field of diagnostics. NGS not only improved the diagnostic workflow, but it also played a vital role in providing unprecedented strategies for the decoding of new disease-related genes.

New developments in genomic medicine, like Whole Genome Sequencing, might increase the number of patients that have a genetic test performed for their condition. NGS dominated the rare disease genetic testing market with a 35.4% sales share in 2021. The high penetration of Whole Exome Sequencing (WES), combined with the introduction of new tests based on Whole Genome Sequencing (WGS), drove the segment share in 2021.

The Key factors driving the growth of the rare disease genetic testing market include a sharp drop in the cost of sequencing, the expansion of patient registrations with rare diseases, the launch of an advanced program for diagnosing rare diseases. Although Whole Genome Sequencing is a more expansive than traditional genetic testing methods, the use thereof for diagnosis of numerous rare diseases is becoming a more cost-effective process. This would require additional clinical considerations for the direct application to patients, and it will be important for more clinicians to recognize and utilize the newly developed technology. Most importantly, all guidelines and proposals should be firstly considered for patients with rare diseases.

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