Global digital transformation permeates society as a whole and influences all aspects of our lives; medicine is not an exception. Laboratory diagnostics offer physicians as much as 70% of the information they need to identify an illness. It represents one of the fastest growing specialties in healthcare and the information it provides plays an increasingly important role in ensuring the health of the global population.
Recently, we have predominantly witnessed the growing relevance of genetic testing and personalised genomics. New technology enables an individual’s DNA to be read as well as separate evaluation of the genetic information. Our ability to read the human genome, while using bioinformatics to evaluate the staggering volume of data that comes with it, has essentially transformed medicine. New possibilities have opened up in prevention, diagnostics and treatment of various severe diseases.
Researchers discovered DNA 66 years ago. It represents a huge encyclopaedia with information entered using only four letters: A, C , T, and G. The dream of scientists from the past has become reality, and now Next Generation Sequencing (NGS) technology enables us to read the genetic code at a reasonable price.
But how far have we really got in this field? Are we able to take advantage of this potential to improve the lives of ordinary people?
Despite the enormous progress, we understand only 1.5% of the whole code that we can read. Comprehension of the clinical significance of genetic information is the foundation of the personalised healthcare of the future.
Why is it important?
Genetic code greatly influences the health of not only every single individual but also the whole population. Variations in DNA structure determine differences in our skin colour, height and weight. However, among many other things they also have an impact on our lifespan, influence predispositions to diseases and even govern our responses to medications.
Compared to biochemical or haematological tests, where results are only valid for several hours or days, our genes are a stable currency: the human genetic code remains practically unchanged throughout our lifetimes.
Personalised medicine opens up new possibilities to help prevent hereditary diseases. Current medicine works retrospectively, that is, we look back to the carrier of the genetic mutation for a specific disease. But, in the future, we will be able to prospectively identify mutations, thus preventing the risk of developing of disease altogether.
An important application is the ability to rationalise pharmacotherapy. At present, millions of people take standard dosages of drugs and undergo identical treatments without knowing what is most effective for them. Analysing a patient’s genetic information avoids inefficient and burdensome treatment from the outset. Pharmacogenetic tests are the future of effective pharmacotherapy.
Yet another aspect is non-invasive testing for chromosomal disorders before childbirth. The discovery of foetal DNA in the mother’s blood essentially changed prenatal diagnostics. The TRISOMY test, the result of co-operation between Slovak scientists and Medirex laboratories, allows non-invasive screening of a pregnant woman’s blood for certain chromosomal disorders with over 99% accuracy.
From prenatal diagnostics to oncological diseases
The technology applied in TRISOMY test is being further developed. As with the prenatal analyses, we are currently integrating genetic tests into laboratory practice to identify tumour DNA in a patient’s blood circulatory system. Using a bioinformatic data analysis and a subsequent comparison with our databases, we can subsequently detect potential oncological disease.
And last but not least, information coded in the human genome can also make recommendations for disease prevention and healthy lifestyles. Mobile smart devices help monitor information about the individual’s health or performance. We are heading towards smart healthcare.
A data explosion in 21st century medicine
Reading the human genome is only one part of the job. To ensure that any data can be used in clinical practice, it must first be analysed according to clinical importance and relevance; DNA is enormously complex and there are a huge number of possible combinations. This means a massive demand for storage, cataloguing, accessibility and analysis using bioinformatic algorithms. Our ability to understand data and attribute the right clinical relevance to it is of paramount importance. It is imperative to ensure international exchange of biomedical data and know-how. Founding global databanks and biobanks would support development in bioinformatics as well as to tackle the issue of security and protection of genomic data. So, let’s join forces to support bioinformatics, a new field of science that is making personalised medicine a reality.
What the medical laboratories of the future look like?
Laboratory diagnostics is developing at a tremendous pace. Centralising laboratories is a global trend that concentrates state-of-the-art technology to reduce diagnosis time, making it more effective while also delivering higher quality results and improved accessibility. We protect the data of our patients and supply physicians the information to form accurate diagnoses and choose the best treatment.
Today, laboratories are essentially “invisible” – but they are going to be increasingly indispensable for both patients and physicians. As the volume of health information expands, so too does our understanding of is complex nature, raising questions of ethics, morals, law and indeed religion. In the very near future, health-related information will play much more important role in all of our lives than we can actually imagine.
It is our duty to explore the world around us, but this comes with a responsibility to use the information wisely. It is an opportunity we must not miss.
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