We had the pleasure to catch-up with Dr. Lasse Folkersen, our latest superhero, who is on a mission to democratise genetic information for general public. Throughout his career, Lasse has been focusing on Genome-Wide Association Studies (GWAS). The premise behind GWAS is to identify genetic variants present in patient cohorts that are absent from healthy individuals. This approach is often referred to as phenotype-first, as patients are first classified according to the clinical manifestations rather than to their genotype. Once genetic associations are determined, this information can be used for developing better diagnosis, treatment and prevention methods to deal with the disease in question.
The problem with consumer genetics
Going from cohort-based studies, where you can have thousands of participants, down to the individual is a challenge in today’s world of bioinformatics. The main issue is that there is no point of reference which requires researchers to become creative in order to set up the appropriate frame of reference. Furthermore, by focusing on the individual, one has to ask, what is the highest quality information I can give them? What information will have the highest impact on a person’s life? These questions are at the forefront of Lasse’s research and of personal genomics, in general.
A natural extension to these questions, and highly relevant to today’s booming market for consumer genetics, is communication. In Lasse’s view, consumer genetics really lacks on the communication to the consumer. Companies, such as 23andme and Ancestry, give clients just a superficial understanding of risks or of their ancestry.
Commercial DNA tests detect single nucleotide polymorphisms (SNPs), which are locations in the human DNA that have been previously shown to vary significantly among people in terms of DNA bases (adenine [A], thymine [T], guanine [G] and cytosine [C]). This means that in a specific location, you may have a C, whereas your best friend might have a T. It is important to note that since you have two sets of autosomal chromosomes inherited from both of your biological parents, you will have two variants at every location.
The fact is, however, that when people are middle-aged and are overall healthy, genetics do not have a huge impact on their lives because they have already lived through the critical early years of their lives. An important exception to this general rule, however, is the BRCA1/2 mutation that can significantly increase a woman’s risk of breast and ovarian cancer later in life.
However, much more information can be extracted from the raw genetic data delivered by these companies. And this is where Lasse comes in to enable the consumers by arming them with the right information.
How Dr. Folkersen has been making consumer genetic information more accessible & useful by disseminating knowledge to the broader public
Lasse is the mastermind behind impute.me, a website that allows individuals to get access to the latest cutting-edge genomic pipelines in order to further analyse their own genomic data. Impute.me’s main premise is to impute, or ‘guess’, millions of SNPs that were not originally measured in the readout provided by consumer genetics companies. The website is divided into dozens of different modules including BRCA (breast cancer), drug response predictions, a rare disease analysis, among many others. An analysis could not be simpler, as the user only has to input their user-id and click run analysis.
By allowing the general public to access these cutting-edge open source tools routinely used in academic and specialised industries, Lasse is contributing to the liberation and dissemination of important information that is often times kept out of the public’s reach because of the lack of education and outreach.
Besides heading the efforts for impute.me, Lasse has also taken it upon himself to disseminate knowledge on consumer genetic testing by authoring a book entitled “Understanding your DNA: A guide”. This book focuses on the world of consumer genetics and how consumers can empower themselves with the information they receive from DNA tests.
Although there are a plethora of genetics books directed to the general public, most of these offer a scientist’s perspective on the molecular basis of genetics. However, with his book, Lasse addresses a gap in general knowledge by discussing the medical and practical implications of direct-to-consumer genetics and walking readers through this new world.
What’s more, this book also takes into account that most genetic studies are focused on patients of Caucasian ethnic backgrounds, which makes the reporting of results quite biased toward other ethnic backgrounds. Therefore, by including both European and Asian examples, Lasse addresses this prevalent issue in today’s world of genetics.
For Lasse, a central dogma in genetic consumer testing, and the only way forward is to provide consumers with high-quality information rather than restricting genetic information.
And we look forward to seeing more initiatives from Lasse!
About Dr. Lasse Folkersen
Dr. Lasse Folkersen is currently a Lead Scientist at the Skt Hans Hospital in Denmark, and is studying the genetic basis of various psychiatric diseases, such as schizophrenia and depression disorder. Because the basis of mental disorders generally are poorly understood, it is a field where there is particularly high hopes for genetics to provide improved care. Previously Dr. Folkersen studied disease genetics for other complex diseases, such as cardiovascular and autoimmune disorders. Dr. Folkersen obtained his PhD in Medicine in 2011 from the Karolinska Institute, Sweden.
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