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com

Whole Genome Sequencing


Cost

By ⁠Dr. Brandon Colby MD, a physician-expert in the fields of Genomics and


Personalized Medicine.

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

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billion base pairs in human DNA, and whole genome sequencing (also known by its
acronym WGS) allows you to learn about genetic variants affecting any of
your genes.

Genome sequencing can measure your predisposition to certain conditions,


identify altered chromosomes that can result in rare diseases in your offspring,
and even determine how you’ll react to specific medications.

Just how much does it cost to have your whole genome sequenced? Let’s find out.

How Much Does It Cost to Sequence a


Whole Genome
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 steadily decreased.

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 or less.

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
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stop at $1,000 — costs have dropped even lower since then, and they’re expected
to continue to do so in the future.

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 personalized medicine.

Whole Genome Sequencing Cost in the USA

There are many providers that offer whole genome sequencing tests in the
United States; 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 advertisements in social media
and the internet.

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 your results.

Whole Genome Sequencing Cost in the UK

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 slightly lower.

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
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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 genetic disorders, cancer, and
infectious diseases.

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
healthcare policies.

Whole Genome Sequencing Cost in India

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 the country.

Why Whole Genome Sequencing Costs Less


Than Testing A Single Gene
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 genome sequencing.

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 of dollars.
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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
the future.

Where Can I Get My Genome Sequenced?


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
your DNA. These results may be accurate, but they won’t be as extensive as the
ones you’ll receive through WGS.

Does Sequencing.com Do Whole Genome Sequencing?

Yes. Sequencing.com, as the name implies, offers whole genome sequencing


direct-to-the-consumer. This means anyone can go online and purchase whole
genome sequencing services, and they work directly with CLIA certified labs to
provide clinical-grade 30x sequencing. Learn more

Does 23andMe Do Whole Genome Sequencing?


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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 the test.

Does Ancestry.com Do Whole Genome Sequencing?

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 full genome.

Does MyHeritage Do Whole Genome Sequencing?

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 health markers.

Does FamilyTreeDNA Do Whole Genome Sequencing?

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 entire genome.

Search
Does Color Genomics Do Whole Genome Sequencing?
Recent Blog News Education Center Knowledge Center
No. Color Genomics provides simplified DNA testing that focuses on identifying
Table of Contents
variants that indicate an increased risk for diseases such as cancer, heart disease,
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and pharmacogenomics. Color Genomics offers alternatives that analyze 10 or 74


specific genes.

Does Invitae Do Whole Genome Sequencing?

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
final results.

Does Helix Do Whole Genome Sequencing?

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 diseases and medication
metabolism, but it still provides significantly less information than WGS.

Whole exome sequencing tests obtain data on around 1% of the genome while
whole genome sequencing tests obtain data on 100% of the genome.

About Our Whole Genome


Sequencing Service
At Sequencing, we offer 30x clinical-grade whole genome sequencing at
affordable prices. What can whole genome sequencing detect? 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 your results.

Our Ultimate Genome Sequencing test keeps your data safe while obtaining data
from approximately 3 billion base pairs, which cover possible genetic variations
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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. Learn more here.

Sources and References


1. 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

2. 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

3. 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

4. GUaRDIAN Consortium, Sivasubbu S, Scaria V. Genomics of rare genetic


diseases-experiences from India. Hum Genomics. 2019;14(1):52. Published
2019 Sep 25. https://doi.org/10.1186/s40246-019-0215-5

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

6. 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

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8/27/23, 7:13 PM Whole Genome Sequencing Cost [Updated 2022] | Sequencing.com

7. 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 Colby MD is a US physician specializing in the personalized prevention
of disease through the use of genomic technologies. He’s an expert in genetic
testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of
Sequencing.com and the author of Outsmart 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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