Genomics On Colorectal Surgery: An Interview with Frank McDermott
An interview by Miguel Cunha
ESCP dedicated this November to raising awareness for hereditary colorectal cancer syndromes and genetics.
Interview with Mr Frank McDermott - Consultant Colorectal Surgeon (Exeter, UK) and Cancer lead for the Genomics Medicine Service Alliance Southwest England) @mcfark
Miguel Cunha: Thank you Mr. McDermott for sharing with us your expert view on Genetics and Colorectal Surgery. We all recognize you as an expert on colorectal genetics. The word “omics” is now part of our daily life. In a short sentence, can you help us to define and differentiate Genetics from Genomics, metabolomics and transcriptomics?
Frank McDermott: All of these words are becoming more commonly used by healthcare professionals including colorectal surgeons. Genetics is the study of genes and inheritance whereas genomics comprises all of an organism’s genes, how they interact and impact on function. There are many other ‘omic’ disciplines such as transcriptomics which is the study of the RNA transcripts that are transcribed from the genome. It’s a simplification, but in sequence you could describe it as Genomics (DNA), transcriptomics (RNA), Proteomics (Proteins), metabolomics (Metabolites) and ultimately the phenotype.
MC: As colorectal surgeons, what is the importance of these definitions on our daily practice?
FM: The appeal of colorectal surgery for me was the need to look after our patients in a holistic fashion. We need to understand anatomy, physiology, evidence-based practice, communicate with our patients as well as have the technical skills to deliver surgery. Genomics is another part of this holistic care and helps personalise care for our patients. To do this we need to understand the terminology and some of the science that underpins it to be able to communicate with other healthcare professionals as part of multidisciplinary care and counsel our patients.
MC: Do you think we can improve the way we deliver surgery with a better knowledge of the patients genomics?
FM: Undoubtedly, 21st century medicine will increasingly further personalised care. No longer will disease A have a trial of treatment A. We will further personalise care but use these new technologies including genomic profiles will help with this. This might be better understanding the molecular profiles of colorectal disease such as IBD and cancers. We will diagnose more patients with germline (heritable) variants such as Lynch syndrome that impact on surgical management, surveillance, chemoprophylaxis and testing relatives. Understanding the immunogenic profile to see if immunotherapy would be beneficial. In addition, the multiple other omic disciplines will impact on patient care such as pharmacogenomic and microbiomics (a prime example being DPYD testing prior to prescribing 5-fluorouracil chemotherapy).
MC: That brings us to the end of the interview! I would like to thank you for sharing with us your insight and expertise in this area. I would like to ask you a final question: What are the potential future applications we can expect for genomic knowledge?
FM : Although there are many exciting potential future applications there is some much that we can do now. This field is rapidly expanding as we try to understand the 3 billion pieces of code that make up the human genome. There are many genomic applications that are already being used internationally including in the management of colorectal diseases. Circulating tumour DNA has potential applications in screening, surveillance such as detection of minimal residual disease and for identifying when cancer clones have changed during treatment with chemotherapy. This means being able to detect new variants and personalize treatment accordingly. Better treatments mean better outcomes for our patients, and I see there being more and more patients having earlier diagnosis and complete clinical response to treatments that we see in a proportion of rectal cancer. Our big challenge is equitable access to these new technologies and mainstreaming which means that as a colorectal surgical community we need to champion genomics!
MC: Thank you so much for sharing your knowledge with us.