Genetics and genomics: A frontier for clinicians.

Abstract

Welcome to the SMJ’s special issue on genetics and genomics. The 21st century bears witness to remarkable advancements in genetics and genomics, a field that is evolving at an ever accelerating and breakneck pace over the recent years. Many will attribute the kick-off to when Watson and Crick cracked the genetic code,[1] marking the start of this century’s genomic revolution.[2] Undoubtedly, the Human Genome Project, which announced the completion of its first working draft in 2000, was only an early landmark in the journey.[3] The costly endeavour, which mapped the human genome for the first time, has given an introduction to the concept of personalised (precision) medicine.[4,5] Today, next-generation whole genome sequencing is routinely available to those who seek it, and at only a fraction of the cost and time compared to the first genome completed in 2000. Nations have entered the community with their population flagship precision medicine programmes,[6] all built upon next-generation genomic sequencing. Ongoing transformative technological development promises to take us further into the future, and the convergence (or translation) between research and clinical practice is an urgent imperative. Despite inroads with genomic technology and discoveries, clinical genetics is not a new specialist field. There are robust training programmes for clinicians who choose to specialise in this domain.[7,8] What the new and more accessible technology has afforded is for multiple disease disciplines and specialists now to consider holistically how genetics (and genomics) play a role in the patients they care for. Besides the clarion call for precision medicine,[9] practising clinicians cannot afford to ignore genetics and genomics. Many of their patients will be seeking genomic answers to their health and conditions. Therefore, with this issue, we hope to raise attention to genetics and genomics, first in the space of rare diseases, where new genomic technology has already started changing practice: prenatal and paediatric genetic diseases,[10,11] inherited eye conditions,[12] cancer genetics,[13] and cardiac and muscular disorders.[14,15] Next, ethical, legal and practice implications are highlighted.[16,17,18] Case examples in a cancer genetic practice illustrate the necessary considerations.[16] ‘Omics in the microbiome’ is a topical companion, especially with growing attention regarding the way it affects health systemically.[19] The piece on genomics data science aims to help clinicians understand how it may be possible to navigate large genomic datasets.[20] Finally, we have used gene therapy as a window into the future in this series.[10,12,19] The future of genomic medicine is already very much at our doorstep. Many areas have not been covered in the current collection. These include: What lies beyond the practice of precision medicine? How can we incorporate other ‘omic’ technologies, apart from genomes and microbiomes? How can we involve artificial intelligence and machine learning tools? How can disease specialities share practice workflow? How are genomic data kept safe in the hospital? How can societies ensure equitable representation and genomic access across ethnicities, gender and creed? These are complex issues requiring resources for evaluating health policies at the national and international levels, and they go hand in hand as we venture to use genetics and genomes in our clinical practice. ‘This is not the end. It is not even the beginning of the end. But it is, perhaps, the end of the beginning’. ― Winston Churchill, The Lord Mayor’s luncheon, Mansion House, November 1942