Bioinformatics extracts valuable health information
A few questions for:
Bioinformatiker Christian Decker
Big Data, Algorithmen, Bioinformatik – Schlagworte, die heute scheinbar genauso selbstverständlich zum medizinischen Wortschatz gehören wie OP, Stethoskop und Spritze. Aber was hat computergestützte Datenverarbeitung mit Medizin zu tun? Kann daraus klinischer Nutzen entstehen?
Christian, I increasingly encounter the term bioinformatics in connection with health and medicine. In a nutshell, what is behind it?
Diagnostics generates huge amounts of data. Not all of them are usable. Bioinformatics evaluates and analyses the procedures, processes and changes from health data with self-programmed applications and with the help of fast and modern computers. This results in valuable information that can be used to reliably identify the causes of diseases, comprehensively treat patients and develop new drugs.
What role does bioinformatics play in genetics?
A major role, in my opinion. Genetic diagnostics and personalised medicine are inconceivable without bioinformatics. Bioinformatics combines technical and biological competences. It is crucial to understand the underlying data 100 percent. Only then is it possible to develop an algorithm that delivers the highest information content from the data. This can also reduce false-positive data. This is a particular challenge in whole exome sequencing and whole genome sequencing. In addition to identifying the correct genetic variants, the aim is to minimise false-positive variants so that they do not lead to false statements and, above all, enable the timely analysis of the sample. Let's think, for example, of people suffering from leukaemia or people whose transplantation depends on a prompt result. Bioinformatics is an important pillar of medical care. A solid and flexible information system can only be created through well thought-out planning and, above all, interdisciplinary communication, implementation and interlinking of all departments involved. For results of high clinical benefit. This has enabled us to crack many complex genetic cases in the past. I remember a case in which a patient had a very complex structural variant. Here we were able to successfully identify a larger deletion paired with a reverse insertion, which corresponded to the part of the previously deleted area and was inserted on a different genome segment.
In your opinion, what makes your work special?
We are independent. An individual, creative and self-critical bioinformatics. With the establishment of bioinformatics here in Ingelheim, a separate in-house analysis pipeline was set up, which is constantly being further developed, optimised and updated. In addition to our own developments, we also use internationally recognized tools and programs after extensive testing. An in-house bioinformatics department is a major investment and therefore not a matter of course. But it is a big advantage for diagnostics. Because it makes us flexible. If a tool does not meet our requirements, it is adapted or extended accordingly or is not used at all. Often it is only nuances that make the difference. At Bioscientia we attach great importance to these small differences and subtleties and spare no effort in order to crystallize the best possible results for doctors and their patients. Here a very close cooperation between laboratory and bioinformatics is absolutely necessary. Our own developments enable us to close gaps. The claim to one hundred percent completeness is a great challenge, but only in this way can we do justice to the individuality of patients and their data. Years of experience allow us to get closer and closer to the ideal results and learn from each additional data set. I am firmly convinced that, for the benefit of the patient, tools should never be stopped from being questioned and, above all, from being optimized, own ideas tested and data validated by real and independent systems tested. Every day we have to keep in mind that there is always a human being behind the data.
What happens next with artificial intelligence? Computers beat us in chess, assemble cars, reserve a table in a restaurant for us as personal assistants. Will doctors be replaced by computers in the future?
No. I don't think so. A computer can sort data faster, filter it and spit out results. Artificial intelligence thus helps us to save valuable time and improve results. But the computer must be told which data is relevant, what to look for. Interdisciplinary experts are needed here. For example, in the case of tumours, rare diseases or complex therapy processes. The machine provides the first part, information that supports doctors in their decision-making process. However, the interaction with patients depends on completely different qualities, human qualities. The computer cannot hold a hand; it can neither look into the eyes of the person whose data set it is calculating nor talk to them. There are and will be situations in the future in which human decisions and experience are required. It depends on the interaction of technology and human expert knowledge. This is how the best result can be achieved.
Why did you choose this profession?
With the background that I can help people with my work, it is for me personally no longer a profession but a vocation. Even if it doesn't look that way from the outside, as a bioinformatician I am jointly responsible for diagnoses. My colleagues and I have to keep in mind that every single technical decision is about people. Each genome is unique and the underlying sequence data is correspondingly individual. This is what makes this field of bioinformatics so challenging and interesting. One can rightly speak of genomic detective work. I also find the interdisciplinary cooperation and intensive communication with colleagues enriching. For me, bioinformatics is therefore the perfect combination to combine findings and knowledge from computer science with the life sciences and to generate added value for the individual. Every day I am motivated to identify complex genetic variants with sophisticated algorithms and thus help people.