Genomics in Pathology

Genomics is defined as the study of genes and their functions, and related techniques. Genomics is used to provide greater insights into health and disease.

Rapid advances in genomic technologies, and scientific and medical understanding, have had a significant impact in healthcare, especially in the field of cancer diagnosis and treatment.

All cancers are a result of changes to DNA which cause cells to behave abnormally. By comparing the whole genomes of cancer cells with those of healthy cells, more of these changes are now being identified.

Genomics is uncovering new links between variants in particular genes and cancer diagnosis, prognosis and treatments, meaning the number of genes that can be investigated is increasing all the time.

Improvements in technology are paving the way for the use of other molecular biomarkers that can be used to inform cancer treatment, such as RNA and epigenetic factors.

Due to the requirements of modern sequencing technology, there has been a move to the use of fresh tissue for the extraction of DNA in order to ensure greater yield and less chance of artefactual DNA changes.

Genomic technologies complement the use of immunohistochemistry, allowing us to look at both the protein changes and the genetic changes that may cause these protein changes.

Insights into the molecular mechanisms that drive cancer have led to more targeted therapies and huge advances in personalised cancer treatment.

Pathologists continue to report on morphological changes to tissue, as this is the basis of all tumour classification, but are now also involved in integrating genomic data with the morphological information.

Pathologists continue to work with biomedical scientists, clinical scientists and oncologists, and will work increasingly closely with colleagues who use and interpret results from molecular technologies, in order to provide the best care to patients.

The role of healthcare scientists is also changing. The scientific workforce is in ideal position to move into interpretation and reporting of molecular assays.

Biomedical scientists have involvement in dissection and cut up of samples as well as tumour assessment and testing – ensuring sufficient tumour nuclei are present in a sample before DNA is extracted.

Genomics is used to predict drug response. It has allowed for increased subtyping of tumour types, meaning that targeted treatments can be offered where available - for example tyrosine kinase inhibitors (TKI) or anti-epidermal growth factor receptor (EGFR) antibodies.

Clinical teams can in some cases make more informed decisions about the use of radiotherapy and chemotherapy - and the hope is that this will become more common as understanding increases.

The presence of known variations in specific genes can also serve as an indicator of prognosis, and can inform decisions regarding a patient’s care and communication regarding clinical outcomes.

The number of drug targets is increasing all the time and it is only a matter of time before more and more treatments are developed.

Healthcare scientists and pathologists are vital to the provision of high quality care and it is vital to keep apace of changes and new developments.

Embrace the opportunities that genomics brings, and the changing roles of those involved in every facet of patient care.