The Evolving Role of the Pathologist in Genomic Medicine

International Pathology Day celebrates the science and skills that underpin diagnosis. Every specimen examined and every slide interpreted helps turn biological evidence into clinical understanding. Pathology has always been at the heart of medicine, but its boundaries are changing fast. Increasingly, the microscope is supported by the sequencer.

In modern diagnostics, molecular pathology plays a decisive role in cancer diagnosis, inherited disease testing, and precision therapy selection. Histology remains essential, but a growing proportion of diagnostic certainty comes from genomic evidence. As the cost of genomic sequencing falls and methods improve, for many laboratories, the challenge lies in interpreting the vast amount of data produced accurately and consistently.

Variant interpretation is now one of the most data-intensive aspects of modern diagnostics. Each variant must be evaluated according to guidelines such as those from the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP), cross-checked against population databases, clinical evidence, and functional studies. The volume and complexity of this information can overwhelm even experienced professionals.

VarSome Clinical brings together over 140 public and proprietary data sources, automates classification based on established guidelines, and documents every evidence path used. This approach helps pathologists and molecular geneticists focus on interpretation rather than data collection, and supports each classification with clear, auditable logic. As laboratories seek IVDR-compliant tools and processes, this traceability becomes as important as analytical accuracy.

The expanding role of the pathologist also requires new collaboration across disciplines. Tumour boards and multidisciplinary review meetings increasingly include molecular scientists and bioinformaticians alongside histopathologists. Modern pathology reports often integrate genomic variants, copy-number changes, and mutational signatures alongside classical findings. The goal remains the same: to explain the biology of disease. But the evidence base has grown dramatically.

For many, this shift feels less like a disruption and more like a natural extension of the profession’s analytical mindset. Pathologists are trained to interpret evidence in context, to weigh conflicting data, and to communicate uncertainty responsibly. 

International Pathology Day is an opportunity to remember how far the field has come. The integration of genomics has not replaced pathology; it has expanded it. By combining molecular insight with morphological expertise, today’s pathologists are helping to define precision medicine, where every diagnosis reflects the genome as well as the slide.

We will be at AMP 2025 in Boston from 11–15 November. Stop by booth 994 to learn how VarSome simplifies variant interpretation and supports confident, evidence-based reporting.