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ByDr. Brandon ColbyMD, a physician-expert in the fields of Genomics and PersonalizedMedicine.
Your genome sequence contains all your genetic information so that your DNA can be constantly replicated to create new cells and keep your organism running properly. Your DNA is made up of nucleotides — adenine, cytosine, guanine, and thymine — which bind together to create base pairs. There are approximately 3 billion base pairs in human DNA,and whole genome sequencing(also known by its acronymWGS) allows you to learn about genetic variants affecting any of yourgenes.
Genome sequencing can measure your predisposition to certain conditions, identify altered chromosomes thatcan result in rarediseases in your offspring, and even determine how you’ll react to specificmedications.
Just how much does it cost to have your whole genome sequenced? Let’s findout.
How Much Does It Cost to Sequence a WholeGenome
By the time the Human Genome Project was completed, it had cost nearly $3 billion. But as modern sequencing platforms became available, the cost of having your personal genome sequenced has steadilydecreased.
Even before the Human Genome Project was successfully completed, there was a growing interest in DNA sequencing. As a result, numerous bioinformatics companies focused on creating new technologies, sequencers, and consumables that would allow them to offer genetic testing at affordable costs. Everyone from small startups to global companies devotes funds to the development of these new sequencing services, which resulted in what is now called the “$1,000 genome”era.
Companies such as Illumina, Pacific Biosciences, Full Genomes Corp., 454 Life Sciences, Veritas Genetics, Dante Labs, and Solexa started working towards the development of sequencing platforms that would allow them to offer whole genome sequencing for $1,000 orless.
The process took several years, but eventually, Illumina’s HiSeq X Ten System was the first sequencing platform to achieve WGS for less than $1,000. Suddenly, genome sequencing wasn’t a distant fantasy; instead, it became a test that was now accessible to millions of people around the world. But these companies didn’t stop at $1,000 — costs have dropped even lower since then, and they’re expected to continue to do so in thefuture.
Thanks to these newer sequencing platforms, large-scale projects have been undertaken with the goal of sequencing many human genomes to gather information about different areas of human health. For example, the Harvard Personal Genome Project (PGP) was launched by George M. Church (co-founder of Nebula Genomics) in 2006; the project aims to sequence the genomes of 100,000 volunteers to advance research into genomics and personalizedmedicine.
Whole Genome Sequencing Cost in theUSA
There are many providers thatoffer whole genome sequencing tests in the UnitedStates; many of them offer prices that range from $999 to as low as $399. However, since so many companies have started offering genetic testing, it’s important to research each provider before committing to one, since not all of them offer the same quality of testing. It can be overwhelming to choose a single provider, especially when you’re bombarded with advertisem*nts in social media and theinternet.
Many companies offer cheap genetic testing that isn’t necessarily whole genome sequencing and won’t yield the same extensive results as WGS. Other features that you should look for in a provider include the ability to compare your DNA results to an extensive genetic database for an in-depth data analysis of yourresults.
Whole Genome Sequencing Cost in theUK
Just as in the United States, there are different private companies that offer WGS and other types of genetic testing in the United Kingdom. DNA testing prices are similar to those in the United States, or slightlylower.
However, the National Health Service (NHS) has proposed the idea of making whole genome sequencing available as part of their routine procedures. When patients are referred for genetic testing by a specialist, the cost of the test is covered by the NHS. Different institutions in the UK are also taking part in large-scale projects, such as the 100,000 Genomes Project, which aims to sequence the genome of 100,000 individuals suffering from geneticdisorders, cancer, and infectiousdiseases.
Governing authorities in the UK have even proposed the creation of “the most advanced genomic healthcare system in the world, underpinned by the latest scientific advances, to deliver better health outcomes at lower cost”, and the country expects to be able to progressively integrate WGS into their routine healthcarepolicies.
Whole Genome Sequencing Cost inIndia
Whole genome sequencing is available in India, and it can cost approximately 25,000 Rs ($338 USD) to 50,000 Rs ($676 USD). A large-scale genomics project called IndiGen is currently taking place with the objective of sequencing the DNA of thousands of volunteers to determine common genetic traits and combat the incidence of rare genetic diseases in thecountry.
Why Whole Genome Sequencing Costs Less Than Testing A SingleGene
When your DNA undergoes whole genome sequencing, the sequencer can simply analyze the entirety of your DNA. After sequencing, annotations are made to analyze the data. But when single-gene testing is performed, the DNA requires extensive manipulation to isolate the desired gene and deliver precise results. And in some cases, this can make single-gene testing much more expensive than whole genomesequencing.
The cost of single-gene testing can vary widely, ranging from around $100 to several thousand dollars. BRCA testing, for example, traditionally costs $3000 to $4000 for a single gene. WGS, on the other hand, can detect the desired gene in addition to any other genetic variant without costing thousands ofdollars.
So even if you pay slightly less for single-gene testing, you’re getting a much smaller amount of genetic data than you would thanks to whole genome sequencing. WGS is widely expected to replace many single-gene tests in thefuture.
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Where Can I Get My GenomeSequenced?
There are several companies that offer DNA testing, but not all of them perform whole genome sequencing. Many popular DNA testing providers offer other tests that are less comprehensive than WGS and only inspect certain portions of yourDNA. These results may beaccurate, but they won’t be as extensive as the ones you’ll receive throughWGS.
Does Sequencing.com Do Whole GenomeSequencing?
Yes. Sequencing.com, as the name implies, offers whole genome sequencing direct-to-the-consumer. Thismeansanyone can go onlineand purchasewhole genome sequencing services, and they work directly with CLIA certified labs to provide clinical-grade 30xsequencing.Learn more
Does 23andMe Do Whole GenomeSequencing?
No. 23andMe — similarly to many other DNA testing companies — relies on a process called DNA genotyping rather than DNA sequencing. Genotyping is only meant to determine which genetic variants are present in your DNA, but it doesn’t sequence the entirety of your base pairs. Since genotyping doesn’t analyze your whole genome, these tests require you to previously identify variants of interest in order to be able to spot them on thetest.
Does Ancestry.com Do Whole GenomeSequencing?
No. Ancestry.com uses a technique called autosomal DNA testing. Although autosomal testing analyzes a large portion of your chromosomes, these tests usually examine approximately 1 million SNPs out of 3 billion possible base pairs, meaning that it still only inspects a small portion of your fullgenome.
Does MyHeritage Do Whole GenomeSequencing?
No. MyHeritage uses microarray-based autosomal DNA testing to look for genetic variants which are associated with particular traits or ethnicities. Rather than sequencing your entire DNA, MyHeritage rapidly scans for markers across your genome to identify your ancestry and certain healthmarkers.
Does FamilyTreeDNA Do Whole GenomeSequencing?
No. FamilyTreeDNA offers different types of genetic tests, including whole-exome sequencing, Y-chromosome DNA testing, and mitochondrial DNA testing rather than WGS. These tests can provide a large amount of genetic data, but they still won’t be able to sequence your entiregenome.
Does Color Genomics Do Whole GenomeSequencing?
No. Color Genomics provides simplified DNA testing that focuses on identifying variants that indicate an increased risk for diseases such as cancer, heart disease, and pharmacogenomics. Color Genomics offers alternatives that analyze 10 or 74 specificgenes.
Does Invitae Do Whole GenomeSequencing?
No. Invitae relies on whole exome sequencing (also known by its acronym WES) to identify genetic variants that can increase your risk for certain diseases. WES is combined with parental testing and clinical observations to provide the finalresults.
Does Helix Do Whole GenomeSequencing?
No. Helix provides whole exome sequencing; additionally, it also inspects specific fragments of non-coding DNA and mitochondrial DNA. This test is meant to identify variants that can be associated with certain diseasesand medication metabolism, but it still provides significantly less information thanWGS.
Whole exome sequencing tests obtain data on around 1% of the genome while whole genome sequencing tests obtain data on 100% of thegenome.
About Our Whole Genome SequencingService
At Sequencing, we offer 30x clinical-grade whole genome sequencing at affordableprices. What can whole genome sequencingdetect? This test provides significantly more genetic data than any of the aforementioned services; additionally, you will be able to upload your DNA test results — from Sequencing or other providers — directly to our DNA analysis apps to get personalized insights and evidence-based information that will help you understand yourresults.
Our Ultimate Genome Sequencing test keeps your data safe while obtaining data from approximately 3 billion base pairs, which cover possible genetic variations such as Single Nucleotide Polymorphisms (SNPs), Insertions and Deletions (INDELs), Structural Variations (SVs), Copy Number Variations (CNVs) and Mitochondrial Heteroplasmy(MITO).
Our clinical-grade 30x sequencing bundles start $379. Learnmorehere.
Sources and References
- Heather JM, Chain B. The sequence of sequencers: The history of sequencing DNA. Genomics.2016;107(1):1-8. https://doi.org/10.1016/j.ygeno.2015.11.003
- DePristo MA. The $1,000 Genome: The Revolution in DNA Sequencing and the New Era of Personalized Medicine. Am J Hum Genet.2010;87(6):742. https://doi.org/10.1016/j.ajhg.2010.10.027
- Phillips KA, Pletcher MJ, Ladabaum U. Is the ”$1000 Genome” really $1000? Understanding the full benefits and costs of genomic sequencing. Technol Health Care.2015;23(3):373-379. https://doi.org/10.3233/THC-150900
- GUaRDIAN Consortium, Sivasubbu S, Scaria V. Genomics of rare genetic diseases-experiences from India. Hum Genomics. 2019;14(1):52. Published 2019 Sep25. https://doi.org/10.1186/s40246-019-0215-5
- Wetterstrand, K. (2020) The Cost of Sequencing a Human Genome. National Human Genome Research Institute. Retrieved on December 17,2020. https://www.genome.gov/about-genomics/fact-sheets/Sequencing-Human-Genome-cost
- Check Hayden, E.(2014) Technology: The $1,000 genome. Nature: International weekly journal of science. Retrieved on December 17,2020. https://www.nature.com/news/technology-the-1-000-genome-1.14901
- Genome UK: the future of healthcare. (September 20, 2020). Gov.uk. Retrieved on December 16,2020. https://www.gov.uk/government/publications/genome-uk-the-future-of-healthcare/genome-uk-the-future-of-healthcare
About The Author
Dr. Brandon ColbyMDis a US physician specializingin the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, andprecision medicine. Dr. Colby is alsothe Founder of Sequencing.com and the authorofOutsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics(ACMG), an Associate of the American College of Preventive Medicine(ACPM), and a member of the National Society of Genetic Counselors(NSGC).
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