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Human genome DNA test costs – how low can you go?

Human genome DNA test costs – how low can you go?

30/01/2020
Posted by:

Dr.M.Raszek


What do you want from your DNA?

If you are looking at decoding your own genome, there are a plethora of options available to you and if you start doing your research (as we would hope you would!), you will soon discover a very wide range of genetic testing cost options. In fact, so wide, it will be at least a factor of 10! So what gives? What is the appropriate price for decoding your genome?

Well, that depends on what you are looking for...

Are you just looking for the DNA sequence?

Or are you looking for a DNA sequence plus its meaning or its interpretation? For the sake of simplicity, we will only focus on medical interpretations, as anything else you might attempt to decode from your DNA will likely not have any scientifically proven validity behind it - that is to say, if you are not interpreting your DNA for genuine clinical reasons, you are just playing and having fun, which is great, but be mindful of your DNA data security. Or really, the DNA data security of all of your current and future relatives.

And to further clarify about the medical interpretation of DNA, this is not about how you handle vitamins and supplements or how you respond to food (sometimes inaccurately referred to as nutrigenomics). For the most part, none of that is clinically validated at all, stemming from scientific observations that still need to be confirmed for accuracy. What we can currently use our DNA for medically is the diagnosing of certain conditions or more frequently to determine a genetic predisposition to a condition (including cancer predisposition, which is the most frequently discovered). Data can also be used for determining how certain medications can be used based on your DNA profile (pharmacogenetics), and finally, what if you might be a carrier of certain DNA mutations that may affect your children without (usually) impacting you.

Image of Merogenomics article quote on DNA health testing interpretation

So where do we start?

 

Cheapest genome on the planet

Let us introduce Veritas Genetics, a Massachusetts company that became instantly famous as the first one in the world to offer personal genomic tests to be sequenced and interpreted for under $1000, and then became the company that became even more famous for pushing the financial boundaries of what one has to pay to get their genome its interpretation done.

At the time when Veritas announced it would offer a $1000 USD genome package (March 2016), this was an astonishing technological achievement considering that the cost of producing the first human genome sequence was just shy of $3 billion only couple of decades ago. In fact, that price tag is still astonishing! Merogenomics deals with arguably one of the best providers of medical interpretations of human genomes there is, and it has a higher price tag than that! Just the DNA sequencing cost component alone will take a good portion of that $1000 DNA test price (we will not speculate what that is [cough cough, look at the link above] but even assuming the instruments that did the sequencing were already paid off – and they are not cheap –and the company was doing it at cost, you would still be looking at few hundred bucks). And the real deal is always in the interpretation.

Image of Merogenomics article quote on human genome project cost

And Veritas became king when it came to offering the cheapest full genome sequencing and anything that even remotely comes close to clinical interpretation. Earlier this year they announced that they lowered their price down to $600 USD per genome in order to compete with such giants of DNA testing as 23andMe and Ancestry. And if you thought that was pretty good price tag already, a year ago, for a very brief moment, Veritas dropped their prices down to $200 USD, which for now probably holds the record for the lowest price tag. That was only a limited offer that ended up lasting just few hours due to the demand! And the company expects that they will be able to offer this price again in not too distance future.

Except…

In December of 2019, Veritas announced it ceased its US operations! Apparently there were not enough funds from investors who got cold-feet seemingly because some Chinese companies have also invested in Veritas, a bit of a no-no in our current political environment of mistrust between the US and China.

 

Dirty secret: manual curation

With that kind of price, something had to give! It had long been assumed that the price was made possible by a fully automated process with minimal manual curation - meaning the time invested by actual humans pouring over the results was the critical factor in reliability. Manual curations ensure the results are properly matched to the clinical symptoms of the patient as well as making sure to find what is currently understood about the DNA mutations that are uncovered in patients, etc., in order to make the diagnosis as accurate as possible. And sometimes that takes an entire team of medical and scientific professionals! Because Merogenomics is not willing to compromise on having the best quality of interpretation and that requires tremendous resources, we believe that the prices we provide are a very good quality benchmark of what should be considered for a high quality DNA test. Can you get similar quality for lower price? Probably, somewhere that exists but not much lower. If you start seeing costs that are 25% less than our prices, start investigating.

Image of Merogenomics article quote on accuracy of genetic testing

Thus $1000, or even $600 for obtaining what can be considered to be some of the most medically precious information about yourself and your DNA, including its medical interpretation, was just an astounding price. Furthermore, the results were supposedly available to the customer on a phone app (that is another whole can of worms)! Veritas reportedly did have some human oversight of the results before the final reports were released, but the question remains, what is enough and what is too little? When it comes to medical information, artificial intelligence can only do so much (albeit we agree, the very important process of filtering through so much information that can be detected in your genome is where AI is a must). Ultimately, human medical oversight based on quality experience with real-world patient data is also needed. It is these intuitive connections that only a human mind can provide that cannot be substituted by a machine. Recognizing a surprising pattern through linking obscure memories from past observations that might solve unusual riddles - this is where human intelligence and experience is unmatched.

The “give” might have also been the number of medical conditions considered for interpretation and reporting based on the full genome. In other words, this sounds like your full genome might have been fully decoded, but they would only partially analyze it. By one account, Veritas might only have looked at 200 genetic predispositions. Well, would it surprise you that you can potentially interpret the genome for a magnitude higher amount of conditions? The number keeps growing actually all the time, but so does the understanding of how DNA mutations are to be interpreted and doing this for thousands of conditions across the entire genome is quite a task. Furthermore, another factor might have been the level of inquiry, without the ability to provide a thorough analysis even in the scrutinized regions, such as certain types of DNA structural variants (alterations of DNA spanning large stretches). Veritas has previously commented on the reduced breadth of their DNA test compared to other offerings on the market.

Image of Merogenomics article quote on interpreting DNA results

 

War on the DNA test cost

While we wondered about the features of their offer, the price war for full genome sequencing is also exciting news because it confirms that the trend towards the public’s acceptance of genome sequencing is accelerating and is expected to reap financial rewards in the future. There are other companies offering similar price ranges to Veritas. The financial investment by Veritas must have been monstrous considering that only since 2014 the Illumina, the world’s biggest producer of DNA sequencing machines, announced the ability to produce a $1000 genome, not including its interpretation! And in order to obtain such a price point with the latest available technology from Illumina at that time, tens of millions of dollars of investment had to be made for the instruments and running the machines.

Well, Veritas did mention on their site that they invested millions. According to Allseq, a California based online sequencing marketplace for researchers, at the time, in order to reach $1000 human genome DNA test cost, one needed an initial investment of $10 million just for the equipment, and to run these machines non-stop 24 hrs/day for 4 straight years (which means analysis of minimum 72 000 human genomes at an operating cost of $62 million, not counting any other running costs). And that was just to get the DNA sequencing cost down to that level! While improvements in sequencing chemistry and machine capacity have reduced the costs further, we are still talking about an enormous financial investment. The human genome sequencing machines are truly produced for high population scale sequencing.

No wonder some people might be scratching their heads as to how Veritas is capable of delivering such a service at the moment and make a profit! That might have been another reason behind the cheap offering - that the company was simply bleeding money from this initial investment in order to capture the market share, hoping for the payout later in other revenues, either through DNA data re-interpretation for the customer (potentially a life-long service), or by partnering with other interested parties in gaining access to the pooled DNA data of customers (like 23andMe’s partnership with a pharmaceutical giant GlaxoSmithKline). But for now, it seems that Veritas could not make it last to that moment.

But it clearly establishes that the interest in making genome sequencing publicly accessible has started, and the competition is heating up! A $1000 genome has long been considered a necessary milestone required for genome sequencing to go mainstream. While thousands of individuals are estimated to have had their genome sequenced in the process of scientific discovery, it is a mass scale population sequencing that is believed to be required to uncover the intricate variation that leads to complex phenotypes including diseases such as cardiovascular diseases or diabetes.

DNA testing companies DNA testing companies competition

 

Doctors and DNA testing: an indispensable blend

However, in order for a customer to sequence their genome with Veritas, customer’s doctor will still have to request it on their behalf. This might be an impediment to some, and not all service providers require such a route, but Veritas may have opted this way for benefit of decreased chances of a FDA crack down over the strict regulations and the added benefit of doctors having immediate access to clients’ results, ensuring the correct medical interpretation and action if needed. The requirement of a doctor for the receipt of results is now a general standard, and if no doctor is required, one should carefully take a second look at what that particular DNA testing company actually delivers. Here are the minimal criteria that a DNA test should have to satisfy a physician and therefore the end user as well.

One potential issue with doctor oversight is the need for privacy protection over one’s DNA data. That should include the doctor with the exception of results where it is known that medical action is necessary. Making only pertinent DNA information available to the doctor would help to limit another often cited criticism of direct-to-consumer genomic services, that it will overburden the healthcare system with DNA information not expected to have clinical validity or utility. In an appropriately designed system the overseeing health care practitioner can focus on only the most pressing (thus verified) results - those that are marked as either pathogenic, or likely to be pathogenic. This is exactly how the reports offered from the DNA test providers that Merogenomics collaborates with are structured. Doctors can gain access to further genetic information as needed, but that rarely will be required beyond what is conveyed in the report to them.

Image of Merogenomics article quote on DNA and healthcare

Veritas, on the other hand, made the sharing of results easy, and even used to promote the idea of delivering them to your fitness coach! The last time we checked, fitness coaches hardly had any professional training in DNA analysis interpretation. What was impressive though was the easy access that Veritas provided to any customer with a genetic counselor, a very important service that every customer should absolutely consider before and after the test.

While we are obviously prejudiced towards supporting public access to genome sequencing considering that we endeavour to create the best consulting company to educate clients on their choice of sequencing services, until our medical system establishes the use of genome sequencing for preventative purposes (and plenty of trends point to this already), an individual should have the right to educate her or himself about the potential benefits of discovering the information encoded in their DNA.

Just remember though, cheaper is not always better and when it comes to full genome sequencing, there are many aspects that come into play. If you want the best current clinical interpretation, then cheaper DNA tests may dictate a simple viewpoint that needs to be professionally reconsidered: what information are you willing to have omitted along the way? The rule of thumb is, you get what you pay for.

Image of Merogenomics article quote on DNA results

 

Don’t wait too long or it might be a long wait

Are we going to go any lower with the cost of DNA testing?

Definitely genome sequencing tests will continue to get cheaper! Technological breakthroughs driving this will continue. However, at some point we will have to reach a limit governed by the cost of human involvement. Until our interpretation of the genome is so profound that such a component can be entirely removed, there will always be the additional cost of a medical geneticist overseeing the test results if you want the best DNA test.

Plus you cannot know when that price drop might occur as it depends on industry-wide efforts - it might happen soon, or it might take long time, depending on what the focus is. Lately, the goals of the industry was not price reduction but the speed of obtaining the data, and that is an entirely different focus, and so the cost of DNA sequencing has flatlined for a number of years.

Image of Merogenomics Blog Figure on Human genome sequencing cost

 Adapted from https://www.genome.gov/about-genomics/fact-sheets/DNA-Sequencing-Costs-Data

Then the next question is, are you willing to wait? If you seem healthy, the answer might be simple (although be mindful of how often presumed healthy people uncover genetic issues), and we already know what their acceptable genome sequencing cost is. But if you have a family history of a disease, or a surprise condition and you have not been able to gain any clinical confirmation, DNA testing might be a very important option. And the final questions is, how valuable is that information to you now? How valuable would that information be to any of us if we knew it could save our life?

No doubt, decoding your own DNA for health information is always a gamble. But you might as well stack the odds in your favour as much as you by selecting a high quality DNA test experience, like the one with which Merogenomics strives to provide you.

 

This article has been produced by Merogenomics Inc. and edited by Jason Chouinard, BSc. Reproduction and reuse of any portion of this content requires Merogenomics Inc. permission and source acknowledgment. It is your responsibility to obtain additional permissions from the third party owners that might be cited by Merogenomics Inc. Merogenomics Inc. disclaims any responsibility for any use you make of content owned by third parties without their permission.

 

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