Gene, genetics and genetic medicines in gastroenterology: Current status and its future

Abstract

The etiopathogenesis of gastrointestinal diseases is varied in nature. Various etiogenic factors described are infective, inflammatory, viral, bacterial, parasitic, dietary and lifestyle change. Rare causative agents are immunological, and others associated as idiopathic, are undiagnosed by all possible means. Some of the rare diseases are congenital in nature, passing from the parent to the child. Many of the undiagnosed diseases are now being diagnosed as genetic and the genes have been implicated as a causative agent. There is a search for newer treatments for such diseases, which is called genomic medicine. Genomic medicine is an emerging medical discipline that involves the use of genomic information about an individual. This is used both for diagnostic as well as therapeutic decisions to improve the current health domain and pave the way for policymakers for its clinical use. In the developing era of precision medicine, genomics, epigenomics, environmental exposure, and other data would be used to more accurately guide individual diagnosis and treatment. Genomic medicine is already making an impact in the fields of oncology, pharmacology, rare, infectious and many undiagnosed diseases. It is beginning to fuel new approaches in certain medical specialties. Oncology is at the leading edge of incorporating genomics, as diagnostics for genetic and genomic markers are increasingly included in cancer screening, and to guide tailored treatment strategies. Genetics and genetic medicine have been reported to play a role in gastroenterology in several ways, including genetic testing (hereditary pancreatitis and hereditary gastrointestinal cancer syndromes). Genetic testing can also help subtype diseases, such as classifying pancreatitis as idiopathic or hereditary. Gene therapy is a promising approach for treating gastrointestinal diseases that are not effectively treated by conventional pharmaceuticals and surgeries. Gene therapy strategies include gene addition, gene editing, messenger RNA therapy, and gene silencing. Understanding genetic determinants, advances in genetics, have led to a better understanding of the genetic factors that contribute to human disease. Family-member risk stratification and genetic diagnosis can help identify family members who are at risk, which can lead to preventive treatments, lifestyle recommendations, and routine follow ups. Selecting target genes helps identify the gene targets associated with each gastrointestinal disease. Common gastrointestinal diseases associated with genetic abnormalities include-inflammatory bowel disease, gastroesophageal reflux disease, non-alcoholic fatty liver disease, and irritable bowel syndrome. With advancing tools and technology, research in the search of newer and individualized treatment, genes and genetic medicines are expected to play a significant role in human health and gastroenterology.

Keywords: Genes; Genetics; Clinical genetic testing; Germline mutation; Somatic mutation; Targeted therapy; Pharmacogenetics; Genetic medicine; Gastroenterology; Gastrointestinal diseases

Core Tip: With advancements in genetics, there are emerging trends in better understanding of diseases and diagnosis of many undiagnosed gastrointestinal disorders. This aids in the search for newer medicines, which are pivotal to the progress of precision medicine. Genetic analysis enables accurate diagnosis, risk stratification, and individualized treatment by identifying germline mutations, somatic alterations, and epigenetic changes. It also plays a crucial role in predicting treatment response and guiding targeted therapies. Gene therapy, gene editing, and clustered regularly interspaced short palindromic repeats -associated protein systems represent promising tools for managing many complex gastrointestinal disorders and also are an aid to the conventional treatment and has a very promising future.