When you think about genetics it’s easy to picture the cheesy first minutes of a science documentary with 1980's electro beats and images of DNA models surrounded by white coated men with important looking glasses.
In reality, or perhaps more in practice, the work around genetics is far less mysterious than that. But make no mistake; its importance needs to be emphasized, as it is a matter of life and death for countless people around the world, and its development goes hand in hand with the level of health care we have available.
Genetics, in short, aims to fully understand the DNA, the blueprint and foundation of all life on earth. In modern medicine, genetics is used to understand how genetic variation relates to human health, and in practical medicine, genetics are used in important fields such as diagnostics, which translates as the identification of diseases and disorders.
Today, genetics is a large industry where laboratories around the world provide different genetic “products”, which are confirmed knowledge and capacity to deal with specific sets of DNA, for other major medical or chemical enterprises such as hospitals and pharmaceutical manufacturers.
Recent years have been turbulent though; the genetic industry faces the winds of change as new technologies emerge to challenge the old ones. Change takes time, a painfully long time, which is why geneticists hop off the public facilities to build up their own, privately owned, laboratories to work with new wave technology and further speed up the process of transformation.
This is exactly what happened with Blueprint Genetics, a Finnish startup company who specializes in the diagnosis of serious genetic diseases. One of the co-founders and current CTO of Blueprint Genetics, Samuel Myllykangas, has a very personal connection with new technology in genetics, as he himself designed an entirely new method of sequencing the DNA while working on his post-doctorate in the Stanford University of Medicine. This method, called Oligonucleotide-Selective Sequencing, got him published in the Nature journal (the scientific equivalent of the Economist), but also sparkled an idea of his own genetics company where he could put his new invention straight to use.
A few years and a million dollar business angel investment later (and a TEKES funding totaling to €1 million), Blueprint Genetics is one of Finland’s leading private genetics companies with customers from all around the world, mainly from the Nordics and Canada.
Their products are segregation analysis’ of specific diseases, which basically means they can identify several illnesses ranging from neurological disorders to kidney diseases, as long as you provide them with DNA samples. Their customers are mainly hospitals who make diagnoses on patients based on the results received from the Blueprint lab.
My recent interview with Tommi Lehtonen, CEO of Blueprint Genetics, revealed the reasons why companies like Blueprint Genetics are necessary and in high demand, and why most customers return to their services.
The Genetics Industry
First of all it’s necessary to clear out who are their competitors. They are other, privately owned genetic labs and immense hospital labs, who among many other things do genetics related work. Hospital labs are currently a majority, which surprisingly is quite beneficial for Blueprint Genetics.
You see, when I first mentioned the clash between the two generations of technologies in the field of genetics, I wasn't kidding. Most hospitals around the globe still use a DNA sequencing method invented in the 70’s. The method, commonly known as Sanger sequencing (after Frederick Sanger), wasn't out of date for many decades, as it used to provide an easy, safe and relatively cheap way of dealing with DNA.
This has changed since the arrival of new sequencing methods, such as Myllykangas’. Now Hospitals are under pressure to completely reform their DNA labs, which costs a lot of money. This is why many hospitals prefer to outsource their sequencing to companies like Blueprint Genetics, who provide them with better and more affordable results.
So what are the benefits of outsourcing?
While keeping in mind that most hospitals have their own labs, there are three important factors that determine how good the labs product is; price, time of turnover and the reliability of the result.
The latter is perhaps the most important of the three, especially if looked upon from a patients point of view.
When it comes to the diagnosis of a life threatening illness, it’s crucial that the the diagnose is accurate. Because of serious fears of legal actions (especially in the US), results which aren’t definitive enough are automatically deciphered as negative. This can lead to misleading information for patients, which could be cleared with a new set of tests. Because the average price of DNA sequencing (ranging from €2000 up to €6000), hospitals are easily unwilling to rerun tests. Companies like Blueprint Genetics, who are equipped with more advanced technologies, have significantly lower costs on average testing (between €1200 - €1800) and have therefore a competitive advantage. The new technology also comes with more accurate results, meaning less negative results than other labs.
You might ask yourself whether negative results are a good metric to measure the accuracy of a lab, but you have to think about the doctors who make the call for the test. They already have good reasons to believe a disorder might be present in the patient, so on the long run numerous negative lab results would mean the issuing doctors were all wrong, which simply isn't true.
Turnover time is the last important factor when comparing lab competency. Average turnover for most labs is around 10 weeks, while private companies can get the same results for a much shorter turnover time of 3 weeks.
Travelling genetics salesman
It’s no wonder Blueprint Genetics is doing well in market where the biggest challenges aren't the competitors but instead, convincing clients that the company's huge service benefits are actually real.
Lehtonen believes the rise of awareness towards new sequencing technology is just a matter of time and he assures Blueprint Genetics isn't in a hurry. They’re happy with their current client base and steady flow of new clients, but they do spread the word of the benefits of using their services. Stands in medical conventions are a great way to get visibility and then there’s always the traditional path of b2b sales.
In the end, the general direction is clear; new generation methods are gaining the upper hand, which is why the Blueprint Genetics team is happy to have hopped the train on an early stage.
Despite their corporate nature, Blueprint Genetics does a fair share of scientific contribution. In an industry where the upper hand comes only through deeper scientific knowledge, new ways to develop existing and new sequencing methods, as well as charting the human DNA is a constantly ongoing process. They, like many others, submit their research results into public databases such as ClinVar, a database developed and based in the US that shares information for public use.
Currently Blueprint Genetics is on the look for Finnish partnerships, so if you know anyone from the med circles, you know where to direct them!