| Abstract: | The use of molecular pathology is becoming more evident every year, with 92% of pathologists stating that they use molecular pathology on a regular basis when reporting diagnostic work. This growth has been led not just through service development and improvement, but also with the introduction of new treatments offering patients significant improvement and overall better survival from cancer. These new treatments tend to require a targeted genomic test to identify specific cohorts of patients that will benefit. This has led to a reform of genomic and molecular pathology testing across the four nations of the United Kingdom, with the introduction of new regional testing hubs. These centres mainly use next generation sequencing platforms, to test for both the inherited and somatic mutations which drive disease. Next generation sequencing offers high-throughput cost effective sequencing of DNA, either via sequencing; individual genes, groups of genes, coding DNA known as Exome sequencing and whole genome sequencing to analysis every base pair in the patients DNA. This technology comes with new ways of working within the laboratory and relays heavily on the data analysis via bioinformatic analysis to; analyse, manipulate, quality control and interpret the vast about of data from these platforms. With the regionalization of testing to the genomic hubs, and with the increased movement of diagnostic cytopathology towards near patient sampling, this opens an opportunity for cytopathology departments to work in partnership with the new genetic testing hubs, to make sure that both parties can avail off the superior benefits offered by cytology samples; safe procurement, formalin free, high diagnostic value, rapid, minimally invasive and a high DNA yield. Cytopathology can also offer a rapid report based on sample suitability for molecular testing based on cellular content, but this to will change with the possible presence of cell-free DNA (cfDNA) which has been reported to be present in abundance in serous fluid supernatants. This supernatant that is normally discarded in the preparation of samples may hold vast diagnostic potential in the move to NGS testing. |
