Highlights of Complete Genomics’ 18th anniversary milestone
Since the Human Genome Project was completed in 2003, the development of tools to uncover valuable insights from genetic data sets has progressed, driven by the need to decipher the human genetic code.
Fast forward to 2023 and genetic sequencing has broken another frontier with genome sequencing for under $100 at a commercial price – an impressive feat considering that in 2010, the cost of sequencing the entire human genome was $5,000.
The completion of the Human Genome Project, coupled with the rapid evolution of the DNA sequencing landscape, have resulted in extraordinary breakthroughs in the field of genomics with innovations that continue to push the boundaries of medical science.
The last 10-15 years have seen deeper insights not only into the inherited genome but also into the immune system, cell-free DNA, and the microbiome, enabling major leaps in supporting healthy aging at the molecular level.
“We, as a society, want to understand how health and cells work at the molecular level in order to be able to use that knowledge to intervene early to prevent disease,” explained Dr. Radoje Drmanac, co-founder and chief scientific officer of Complete Genomics, a US-based life sciences company that has pioneered and developed a series of DNA sequencing platforms in California.
“Even more than health, there is personalization related to learning and parenting. In addition, the same efficient sequencing technologies are also driving genomic advances in the fields of healthier, more accessible foods and a greener and more efficient economy.”
Pioneering genome sequencing
Complete Genomics was instrumental in setting the direction for genome sequencing as it was the company that introduced the $5,000 genome and then the sub-$100 genome sequencing to the industry.
The California-based company is also celebrating 18 yearsth birthday in June, incites Dr. Drmanac to reflect on the impact of Complete Genomics on the US market and the direction of the field of genomics.
“We started the company at a time when the market and economy were a bit sluggish,” he explains. “But we are not only surviving but thriving, advancing genomics and growing in the process. We should all be proud and celebrate this achievement.
“What is the secret of our success? It’s a combination of things, starting with our new approach to sequencing the entire human genome. It had never been done on such a scale and price.
“We proved through biochemistry, heavy bioinformatics and analytics that we can use short reads to achieve the required high genome sequence quality, without cutting corners.
“But it is more than just technology. We don’t want to make huge profits right away. We want to grow the company by cultivating relationships and establishing Complete Genomics as a name people can trust.”
Massive parallel sequencing as a starting point
According to Dr. Drmanac, the success of Complete Genomics would not have been possible without advances made in massive parallel sequencing (MPS), a method he devised and later developed using DNA nanoballs (DNBSEQ™) to enable the simultaneous analysis of millions of DNA segments as genetic markers.
By determining accurate sequences, DNBSEQ MPS is able to characterize true allelic variations without PCR artifacts, elucidate admixtures, and obtain usable profiles of degraded DNA.
However, as a visionary, Dr. Drmanac details the areas where he and Complete Genomics are focusing their efforts and positively influencing the sequencing industry agenda.
“We still have space in front of us,” he said. “We’re leading the way with a sub-hundred-dollar genome and we’ll be the first to get a $10 genome.
“I personally believe we will achieve thousands of base readings. We will read a thousand continuous bases with MPS at an affordable price.
“We increased the read length, which is very important for some applications. We also have a complete whole genome sequencing process (CompleteWGS) that uses our special DNA barcodes that can really help in regions of genomics that need longer reads.”
Complete Genomics Technology
Dr Drmanac referred to the company’s stLFR** Library Prep Kit which uses single tube long fragment reads to provide synthetic or linked long reads in excess of 100kb on the Complete Genomics DNBSEQ platform.
Recently launched in February, this kit is a solution to the limitations of short read lengths and enables high-quality recall of small and large structural variants, haplotype grading of more than 99% of the human genome, Again assembly, and other long fragment applications.
Along with sample preparation and library automation solutions, the Complete Genomics family also includes the DNBSEQ-E25RS* portable sequencer, the DNBSEQ-T20x2RS* high-throughput sequencer, and the DNBSEQ-G400RS* medium-throughput benchtop sequencer.
The development of sequencing technology is a testament to how far Complete Genomics has come since its inception, not only in innovation but also in offering alternative solutions that better suit today’s genome sequencing needs.
“Complete Genomics provides a complete solution for the sequencing laboratory, from samples to variance reports covering automation, libraries and sequencing kits and instruments, as well as analytical software at the end.
“This is reflected in our mission statement which aims to propel and advance the field of genomes for the greater good, to enhance life using our unique, unrivaled, sequencing solutions. It’s not just one product, it’s a truly complete solution.”
The genomics revolution in human health
It wasn’t always like that, as Dr. Drmanac. In its early days, Complete Genomics positioned itself as a sequencing provider, specifically the ability to sequence the entire human genome for $5,000, using patterned DNA sequences from DNA nanoballs, resulting in a much more efficient and higher density sequencing platform.
However, over the past 20 years or so, the pace of genomic change has meant that almost any laboratory is now able to deploy a number of applications that use efficient, accurate, and cost-effective sequencing.
The genomic revolution, according to Dr. Drmanac, has reached a point where its role is fundamental to human health, where deeper data insights are critical to unlocking ways to diagnose and prevent disease.
“Our mission is to drive genomics to achieve a better life with the unique product solutions we provide to sequencing laboratories. For me it was through affordable and accessible large sequencing data. Big data comes from billions of samples and deep analysis of each sample that automation has to handle.
“Nobody believed that we could take the sequence and predict the protein structure. So, the concept is similar to taking all this omics data to reveal what is needed to maintain and regulate various aspects of human health.” added Dr. Drmanac.
“But we realized that if you just have low sequencing costs, it’s not promoting the field because suddenly library preparation, aligning reads with references, or computational aspects become more expensive.
“So we are taking steps to solve all of this, by as much as we can or partnering with other companies to make the complete sequencing process more affordable.”
The future of genome sequencing
Looking to the future, Dr. Drmanac has more to say about this genomics revolution, where the impact of efficient sequencing will be most pronounced on human health in both the very young and the elderly.
There are different levels of prevention such as in the prenatal stage, he highlights, where complete genome sequencing can help in predicting and preventing disease or in in vitro fertilization where it can help select the healthiest embryos.
Then there is the newborn stage, where it is often possible from the genome sequence to determine whether a baby is predisposed to certain conditions. So, doctors can carry out early examinations, early prevention, and then it is clear what medicine to use.
Then there’s sequencing other people – preferably before 50 – to assess cancer and other disease predisposition, including determining more accurate polygenetic scores for various conditions.
“The more requests, the more the ordering fee will drop,” Dr. Drmanac added. “That means the more data we generate and the more knowledge we accumulate, the quicker we can prevent disease and help everyone.”
* Unless otherwise noted, StandardMPS and CoolMPS sequencing reagents, and sequencers for use with these reagents are not available in Germany, Spain, United Kingdom, Sweden, Italy, Czech Republic, Switzerland, and Hong Kong (CoolMPS is available in Hong Kong). Sequencer named with “RS” is for research use only and not for use in diagnostic procedures.
** MGI stLFR products are sold only in the United States, and are for research purposes only.
Image courtesy: MGI International
Author: Wai Lang Chu
