Laboratory diagnostics in personalised medicine - 36th Symposium of the Croatian society of medical biochemistry and laboratory medicine.
This symposium overview summarizes lectures on laboratory-enabled personalized medicine, including hereditary variants, CFTR modulators, newborn screening, spinal muscular atrophy diagnostics, cancer genetics, and pharmacogenetics.
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This symposium overview summarizes lectures on laboratory-enabled personalized medicine, including hereditary variants, CFTR modulators, newborn screening, spinal muscular atrophy diagnostics, cancer genetics, and pharmacogenetics.
Research significance
The record supports the general premise that genetic and laboratory diagnostics can enable earlier treatment or more individualized therapy; it does not provide direct evidence that a specific diagnostic or therapeutic strategy improves outcomes in pediatric cancer.
Source abstract
Personalised medicine has become a central paradigm in modern healthcare, aiming to tailor prevention, diagnosis, and therapy to each patient's unique molecular and clinical profile. This paper provides a comprehensive overview of the lectures presented at the 36th annual Symposium of the Croatian society of medical biochemistry and laboratory medicine. It highlights key topics including the role of disease-causing variants in hereditary disorders, the development of cystic fibrosis transmembrane conductance regulator (CFTR) modulators, the evolution of newborn screening programs and spinal muscular atrophy diagnostics, emphasizing early detection and timely initiation of therapy, advances in cancer genetics, pharmacogenetics, and the translation of other laboratory-based innovations into clinical practice. Altogether, these advances reaffirm the central role of laboratory diagnostics as the cornerstone of personalised medicine, bridging genetic discovery with clinical translation and transforming modern healthcare into a predictive, preventive, and truly patient-centred discipline.