The Era of the Genome and Dental Medicine

Abstract

Understanding the “code of life” and mapping the human genome have been monumental and era-defining scientific landmarks—analogous to setting foot on the moon. The last century has been characterized by exponential advances in our understanding of the biological and specifically molecular basis of health and disease. The early part of the 20th century was marked by fundamental theoretical and scientific advances in understanding heredity, the identification of the DNA molecule and genes, and the elucidation of the central dogma of biology. The second half was characterized by experimental and increasingly molecular investigations, including clinical and population applications. The completion of the Human Genome Project in 2003 and the continuous technological advances have democratized access to this information and the ability to generate health and disease association data; however, the realization of genomic and precision medicine, to practically improve people’s health, has lagged. The oral health domain has made great strides and substantially benefited from the last century of advances in genetics and genomics. Observations regarding a hereditary component of dental caries were reported as early as the 1920s. Subsequent breakthroughs were made in the discovery of genetic causes of rare diseases, such as ectodermal dysplasias, orofacial clefts, and other craniofacial and dental anomalies. More recently, genome-wide investigations have been conducted and reported for several diseases and traits, including periodontal disease, dental caries, tooth agenesis, cancers of the head and neck, orofacial pain, temporomandibular disorders, and craniofacial morphometrics. Gene therapies and gene editing with CRISPR/Cas represent the latest frontier surpassed in the era of genomic medicine. Amid rapid genomics progress, several challenges and opportunities lie ahead. Importantly, systematic efforts supported by implementation science are needed to realize the full potential of genomics, including the improvement of public and practitioner genomics literacy, the promotion of individual and population oral health, and the reduction of disparities.

Biologically informed stratification of periodontal disease holds the key to achieving precision oral health

“…From the discovery of the structure of DNA in 1953 3 to the emergence of the term “genomics” in 1990, 4 the era of genomics and the understanding of the association between the human genome and health and disease outcomes is still relatively new. Indeed, the Human Genome Project was completed in 2003, and the first genome‐wide association study (GWAS) related to oral health was published in 2009.…”

“…Timeline of genomics evolution and selected landmarks events in dental medicine and periodontal disease. From ref 4…”

Searching Deep and Wide: Advances in the Molecular Understanding of Dental Caries and Periodontal Disease

“…Another major thrust forward has been delivered via the emerging individual susceptibility knowledge base that is being generated in the current era of the genome (Divaris 2019). During the past decade, several efforts from multiple groups around the world have investigated the genomic basis of caries (Shaffer et al 2011; Shaffer et al 2013; Zeng et al 2013; Divaris 2017b; Ballantine et al 2018; Morelli et al 2019) and periodontitis (Schaefer et al 2009; Schaefer et al 2010; Bochenek et al 2013; Divaris et al 2013; Teumer et al 2013; Offenbacher et al 2016; Sanders et al 2017; Schaefer 2018; Morelli et al 2019).…”

Undiagnosed and rare diseases: current challenges, perspectives and contribution of oral cavity examination

“…In this context, is highlighted research on the hereditary components of dental caries; the genetic basis of third molar agenesis, periodontal diseases, and dentofacial development in general; the geneticÀenvironmental interaction in the development of oral clefts, for which a deletion in the amelogenin gene has been identified as a causative factor in Xlinked amelogenesis imperfecta; mutation of CFTR, the cystic fibrosisÀcausing gene, which also causes enamel defects; an association between the interleukin-1b genotype and periodontal disease; and the discovery of the role of PAX9 in tooth organ development and palatogenesis, among others. 4 One of the oral features that may be important in the diagnosis of rare diseases is the presence of dental anomalies, which frequently occur in a number of genetic disorders and are a major sign in these disorders. 5 During clinical examination of patients with undiagnosed and rare diseases, the presence of hypodontia, oligodontia, anodontia, solitary median maxillary central incisor, mesiodens, supernumerary teeth, enamel pearls, supernumerary cusps, natal tooth, Leung cusps, microdontia, and macrodontia, among other conditions, should be investigated.…”