What's the right price of whole exome sequencing?
This is one of the most frequent questions I am being asked and one of the most searched on the internet: what's the price of whole exome sequencing (which consists in the sequencing of all human genes)? Of note, whole exome sequencing does not consist in the sequencing of the entire genetic heritage of an individual (that is only done by whole genome sequencing), yet it warrants high detection rates because it sequence the regions where about 85% of all pathogenic mutations are falling: the coding genes! The prices of whole exome sequencing and whole genome sequencing seems to be a vanishing information, as genetic testing companies usually gives prices on demand only.
NGS: scalable but not flexibile
Next Generation Sequencing (NGS) based on Illumina and other platoforms is based on a methodology which is sort of "scalable" but very little flexible. Even the same manufacturer produces platforms of different capacity in terms of (1) number of samples that can be loaded on each run and (2) amount of data obtainable for each sample. So, for a smal lab, for instance, a small platform may be convenient if you want to run just few samples for few multigene panels a week. On the other side, if that same lab needs one day to perform whole exome sequencing on one single sample, that platform will turn out to be totally uneconomic. To make the idea clearer, you could think of each DNA sample like the passenger of an airplane. Suppose you have 10 passengers who needs to be carried every day from Rome to Madrid: a small jet will perfectly fulfill the need. By contrast, think now that you have 400 passengers to be carried from London to New York: in this case, either you do 40 round-trips with your small jet or you buy a larger aircraft to accomplish the task in just one trip. Which one of the two solutions do you think is the most economical one to move 400 passengers at a time? The second one of course! So, to do whole exome sequencing (and whole genome sequencing) at reasonable prices and turnaround times, you need a large sequencing platform! Not only: you also need a large number of samples to be sequenced every week, because you certainly do not want your large Boeing or Airbus carrying just 10 or 20 passengers at a time, right?
Commercial genetic testing and public health systems
Another factor strongly influencing the price of high throughput sequencing (whole exome sequencing and whole genome sequencing) is the testing arena (private vs public). Obviously genetic testing at public health systems may come free of charge, although one usually has to face with (1) extreme difficulty in getting the prescription and (2) very long TATs (up to one year or two in some cases). Commercial genetic testing is usually very tough in turnaround time. Even when the queue is long, a private lab should not make you wait more than 7-9 weeks (for a more general discussion on turnround time of genetic testing, you may read our post here). When talking about the difference in genetic testing price at private vs public institutions, there is also another factor to be taken into account: in the public health system, the "zero" price for the patient reflects in a price for the community, which is generally quite high, certainly higher than the cost of whole exome sequencing for one single patient at a private lab. Such a difference is based on a series of several and complcitated aspects, which we'll not address here.
So, coming to numbers...
So, coming to numbers, I've seen anything from 600 USD to more than 4,000 EUR (five years ago the upper limit was even higher). Such a big difference is mostly due to the topics discussed above, but also depends from other important factors such as the geographical region, the type of customer (private patient vs large institution) and by the number of samples given per each order. Eventually, maybe above all previous ones, I think there remains the question of quality. We know that, still today, artificial intelligence is not able to produce a robust genetic diagnosis starting from a simple list of genetic variants. Although artificial intelligence may be of help, a refined genetic diagnosis is still a matter of knowledge, experience and capacity of human Clinical Scientists and Medical Geneticists, who are called to finally interpret the clinical significance of the genetic variants.
Likewise the impact on turnaround time, the human capacity and the professional touch of an experienced lab team, will have its impact on the final price. At the end, what's the advantage in getting an exome result for 600 USD if you know that the result is just the product of some algorithm or, even worse, just a list of ClinVar annotated variants? Would you trust the results of your your brain magnetic resonance exam without the interpretation and the signature of a Radiologist?
The right price at the right lab
As a start-up, we know that every newcomer has to come to the market with double the ability and a competitive price. Nevertheless, even in consideration of a customer's size and the possible amount of their orders, the price for genetic testing cannot drop under certain levels. If the entire analysis costs even the less than sample sequencing only (without any bioinformatics and human inerpretation), questions may arise about the reliability or clinical consistency of that test. If you are interested in real genetic testing based on whole exome sequencing or whole genome sequencing performed by a team of experienced Professionals looking into it, please do not hesitate to contact us. At Breda Genetics we know the importance of giving access to high throughput sequencing to as many people as possible, without, however, comprimising on reliability and quality of the final Medical Report. Whether you are a private patient, a physician looking for a test for their patient, or a large institution looking for a partner, please do not hesitate to contact us!