By Dr. Brandon Colby MD, a physician-expert in the fields of Genomics and Personalized Preventive 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 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.
Once upon a time — or really, a few short decades ago — sequencing a single human genome was an extraordinarily expensive endeavor. In fact, the Human Genome Project represented the first time in history that the base pairs of human DNA were sequenced in their entirety. It took 13 years to complete (from 1990 to 2003), and it required the collaboration of dozens of research centers, universities, and scientists hailing from different continents.
The Human Genome Project was groundbreaking for its time. It used sequencing methods that were amazingly innovative then but have fallen out of use over time, such as Sanger sequencing. Sanger sequencing, along with other first-generation sequencing methods, were time-consuming and expensive since they were only able to sequence small DNA fragments. This technique has since been improved upon, and while it’s still used for very specific purposes, it would be practically impossible to make genetic testing widely available if other techniques hadn’t been developed.
That’s where next-generation sequencing (NGS) or high-throughput sequencing methods come into play. Over time, biotechnology companies and genomic researchers have developed sequencing platforms that have become increasingly automated and can sequence longer DNA fragments in one go — thus making DNA sequencing faster and cutting sequencing costs. Thanks to these advances, it’s now possible to sequence an entire genome in a short period of time and for a reasonable cost.
Whole genome sequencing (also known as WGS) can be used for many different purposes. Some people choose to get their genome sequenced to learn more about their ancestry, whereas others want to have more control and knowledge over their potential health risks. Genetic information can also be used by prospective parents for genetic counseling or prenatal testing. Sequencing data can also be used to achieve a personalized approach to healthcare, and to create public health programs that are tailored to each community’s requirements.
As newer sequencing technologies have become available, more and more companies have started to offer consumer genetic testing to the general public. It’s important to conduct your own research before choosing a company that provides genetic tests. If you’re interested in DNA testing, it can also be a good idea to ask a geneticist for recommendations. Some DNA tests are available on a direct-to-consumer basis, whereas others may require a physician’s prescription.
You should always consider reviewing your results with a specialist who can help you understand the significance of the information contained in your genetic data.
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 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.
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.
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 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 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.
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.
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.
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.
Yes. Sequencing.com, as the name implies, offers whole genome sequencing direct-to-the-consumer. This means that anyone can go online and purchase their whole genome sequencing service, which is called ‘Ultimate Genome Sequencing.’ Learn more
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.
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.
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.
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.
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 specific genes.
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.
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.
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 such as Single Nucleotide Polymorphisms (SNPs), Insertions and Deletions (INDELs), Structural Variations (SVs), Copy Number Variations (CNVs) and Mitochondrial Heteroplasmy (MITO).
Learn more about our tests and how they work here.
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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).