IMMUNOHISTOCHEMISTRY AND GENOMIC PROFILING IN PRECISION DISEASE DIAGNOSIS

Abstract

The low-level of overlap between the molecular and phenotypic features of diseases is increasingly driving the need for integration of both types of information for the purpose of precision diagnostic laboratory medicine. The combined use of immunohistochemistry (IHC) and genomic profiling is the subject of this study and how it contributes to diagnostic accuracy and precision. The results show that IHC can effectively recognize the cellular localization and protein expression patterns; in addition to giving important information at the tissue level, genomic profiling can identify important molecular changes, such as dysregulated pathways and pathogenic mutations. These methods demonstrate better agreement in the diagnosis of the disease when used in combination and in some complicated and borderline cases, the use of these methods results in a marked decrease in the level of diagnostic uncertainty. The integrated analysis showed greater links between the molecular changes and phenotypic expression, allowing for identification of clinically actionable biomarkers and thus personalized therapeutic strategies. In addition, the integrated approach enhanced the ability to stratify prognosis based on genomic signatures and their association with protein level expression patterns that are important for disease progression and treatment response. The results overall validate the use of an integrated IHC–genomic strategy as a more holistic diagnostic tool than traditional single-modality techniques. In this study, the authors reiterate the importance of multimodal diagnostics in precision medicine and encourage their wider use in clinical practice to maximize patient outcomes.