Picture: Duncan Hull/Flickr In contrast with the quiet and humble reputation, Finland has a rapidly developing technology sector with world class services in greentech, mobile communications, gaming and biotechnology. Helsinki-based Blueprint Genetics has established itself as a leading company in the Nordic region within the field of diagnostic DNA sequencing, with sharp eyes on the American market. DNA sequencing is a method of detecting a nucleotide sequence in a DNA strand which is converted into a decipherable code. The information from this scan can be used to find (with the help of some serious computing power) any abnormalities or mutations that may be occurring currently or are likely to in the future. This can assist with not only the diagnosis of disease but also provide valuable information on taking a more personalised approach to treatments. Deadly disease – a thing of the past? When the entire human genome was sequenced 11 years ago (The Human Genome Project), there were ripples of excitement that we were on the cusp of a biotech revolution where serious diseases were going to be a thing of the past. The initial fanfare eventually faded and the public went back about their daily business. However, the genomics community has been toiling away to get us now to a point where the excitement of the past starts to look more justified. A major advancement has been the gradual surge in sequencing power and a drop in sequencing costs. This ‘more power for less buck’ means that independent companies like Blueprint have been able to establish their own in-house sequencing operations from what was predominantly the domain of large academic research institutions. “DNA sequencing is evolving at such an astonishing pace and doubling of the sequencing power is even surpassing Moore’s Law. A printout of genomes For the present day, DNA sequencing is still too expensive for the private consumer, so the bulk of clientele for these independent companies come from hospitals, both in Finland and abroad – who outsource their work. Samuel Myllykangas, the chief technology officer at Blueprint, is cautiously optimistic that this technology will eventually enter the private consumer field. “DNA sequencing is evolving at such an astonishing pace and doubling of the sequencing power is even surpassing Moore’s Law (which means that processor speeds, or overall processing power for computers will double every two years). This development is driven by new types of sequencing technologies designated as the ‘Next Generation’ that are making the DNA sequencing process much faster, more efficient and cheaper than ever.” Clinical DNA sequencing is at this stage limited to testing a few hundreds of known diseases-related genes instead of the whole genomes. Does he envision a time when the individual could simply get a printout of their entire genome with all information on the possibility of any diseases or mutations? “Yes that is possible, but there are many things that need to be addressed before we could be at that point. The pricing needs to be reduced even further and there needs to be a lot more confidence in interpreting the genetic information that is extracted.” Myllykangas points out that at the moment the results from a genetic test act as guidance for reaching a diagnosis for a patient with a suspicion of an inherited disease and in some cases to help determine what action could be taken clinically. A personal DNA saliva kit It is still too early to screen healthy individuals by sequencing and use the genetic information to predict future diseases or define preventive treatments. This is also when ethics become involved because great care needs to be taken with the information that may indicate an increased risk of serious disease or any action that follows. One recent example that could be highlighted is from an American based company called 23andMe. For 99 USD they were offering a direct-to-consumer personal DNA saliva kit that required a spit sample, which was to be returned to their lab. The results, a rather long list that contained information ranging from ancestral lineage to more critically, possible biomarkers for elevated risk for cancers or Alzheimer’s disease. These were then emailed back to the customer without proper genetic counselling or follow-up. Because of concerns about the consequences of inaccurate testing results, a year ago, the US Food and Drug Administration banned the use of 23andMe’s test for clinical genetic evaluation as it lacked any clinical and analytical validation. High-quality genetic testing There are a number of companies that do DNA analysis here in the Nordic region and the diseases, genes and mutations as well as the approaches all vary. Blueprint Genetics focus their attention on a number of genetic disorders such as cardiovascular, metabolic and immunologic as well as tests for kidney, neurological and eye diseases. There is an ongoing process to develop gene testing for a range of other inherited diseases. They work with a method called Oligonucleotide-Selective Sequencing (OS-seq™) that Myllykangas developed whilst at Stanford. His approach is a novel next-generation sequencing technique that enables efficient and high-quality genetic testing applications. With Myllykangas’ technology expertise, he joined forces with two fellow Finnish researchers Juha Koskenvuo and Tero-Pekka Alastalo who were also at Stanford doing their post doctorates (and who now are both medical directors at Blueprint Genetics). Upon their return to Finland in 2011, they founded Blueprint Genetics with the aim of providing the whole service from a sample through to testing and concluding with clinical reporting, all under one roof. With all the developments happening within the genomics world and in particular, DNA sequencing, what would Myllykangas consider the most exciting part of working in this field? “There are some really exciting stories coming from the results of genetic testing. Even though it’s just a sample, that sample tells a story of not only the individual it belongs to but also to the people closest as it affects them too. For example, in the case of hereditary diseases, it means that one test result can give an indication of other family members that should maybe be considered for treatment(s).” The age of preventive medicine One of the most promising developments in the field of genetic sequencing is a term that is being used more and more which is referred to as ‘personalised medicine’. This means that diagnosis and treatment will be more tailor made to deal with each patient’s individual make up making it much more effective. This is contrary to the more blanket approach that has been utilised up until recently. Eventually when all the creases have been ironed out, we can quite possibly be in the age of preventative medicine which will mean being able to act on a disease that hasn’t even happened yet. After all is said and done, its still easy though to get ahead of ourselves with excitement but Myllykangas and his colleagues are more grounded in their enthusiasm “It’s ultimately a societal progress and it happens slower than the futurists, technologists and researchers tend to expect but we are definitely on the right path.” More than a decade after the results of the Human Genome Project and its promise of a revolution in medicine, it could now be said with confidence that we are in the midst of that revolution. And we will all benefit. 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