Artificial intelligence and modern genetic methods are changing how we approach the diagnosis and treatment of cancer. A panel of experts from the field agreed that NGS and liquid biopsy enable more precise decision-making and offer a chance for more targeted treatment. In Slovakia, however, their broader use is hindered mainly by reimbursement and the absence of clear rules.
NGS: what it is and what it offers
NGS, that is, massively parallel sequencing, can analyze in a single run a large number of genetic changes defined by the selected panel. In practice, targeted panels are used for clinically actionable findings as well as broad profiling that looks for patterns across the genome. The result is more precise diagnostics, for example distinguishing subtypes in diffuse large B-cell lymphoma, which translates into treatment selection. Thanks to this, drugs can be targeted where they have a chance to work, and ineffective therapy can be avoided in most patients.
NGS also conserves scarce tissue material because it replaces repeated single-gene tests with a single comprehensive examination. With small samples, the rule is to get as much as possible out of the little you have, which NGS enables better than a series of sequential tests. Moreover, the combined cost of multiple markers tested sequentially can exceed the cost of a single broader panel. And finally, “tissue-agnostic” therapies are on the rise, where treatment is guided by a specific genetic alteration across tumor types; a typical example is NTRK gene alterations approved by European and U.S. regulators.
Liquid biopsy: blood as a window into the tumor
Liquid biopsy examines tumor DNA/RNA in blood and is especially valuable when resistance to treatment emerges or when reoperation is not possible. In lung cancer or colorectal carcinoma, it enables detection of new mutations and adjustment of therapy without invasive procedures. The approach is minimally invasive, fast, and suitable for ongoing monitoring of treatment effectiveness. For severely ill patients, this means less burden and potentially faster decisions.
In lymphomas, it is becoming clear that liquid biopsy may be more accurate than PET/CT in assessing response. If PET/CT is positive but the liquid biopsy is negative, the prognosis approaches that of patients with negative PET/CT, which can prevent unnecessarily aggressive treatment. In practice, this can save tens to hundreds of thousands of euros and spare the patient demanding therapy, such as CAR-T. This is also why liquid biopsy has made its way into international recommendations, where it is considered a promising tool for clinical practice.
Between vision and reality: reimbursement, organization, and the role of AI
In Slovakia, NGS is so far only partially reimbursed, often from grants and donors, and clear rules and designated centers are lacking. In the Czech Republic, they rely on multidisciplinary tumor boards that indicate comprehensive profiling and the insurer reimburses it; in Belgium there are clear lists of biomarkers and hospitals are obliged to report NGS data centrally. Turnaround time can be two to three days under ideal conditions, but this requires capacity, bioinformatics support, and batch testing for economic reasons. Diagnostics, meanwhile, accounts for only a fraction of the budget, even though it influences a large share of clinical decisions.
Artificial intelligence is already entering the interpretation of results and can speed up analysis, especially with rare tumors and monitoring minimal residual disease. At the European level, efforts are underway to harmonize approaches, but implementation remains in the hands of member states. Caution is warranted with very early cancer detection to avoid overdiagnosis and unnecessary burden on patients. The panel’s consensus is clear, however: if rules, reimbursement, and data are set up sensibly, NGS and liquid biopsy can markedly improve treatment outcomes for cancer patients.
