Genetic Testing Considerations for Oral Medicine

Abstract

The availability and integration of genetic information into our understanding of normal and abnormal growth and development are driving important changes in health care. These changes have fostered the hope that the availability of genetic information will promote a better understanding of disease etiology and permit early, even pre-symptomatic diagnosis and preventative intervention to avoid disease onset. Expectations for this proactive health care approach are fueled by the technological and scientific advances that have fundamentally changed how we perceive human diseases. Among the clinical applications of this information, genetic testing applications are likely to expand significantly and may broadly impact the clinical practice of dentistry. In this changing environment, it is vital that dental care providers, policymakers, and consumers become aware of important issues related to genetic testing and the incorporation of genetic information into the diagnosis and treatment of common diseases that involve the oral cavity. We must also guard against unrealistic expectations and calls for genetic tests that are not valid. To realize the promise of this new molecular genetics, we must understand the possibilities and responsibly incorporate newly emergent technologies into the evolving discipline of dentistry. This paper overviews many of the important issues that need to be considered in the application of genetic testing to oral medicine. Dr. Hart is Associate Professor,Locus: the position in a chromosome of a particular gene or allele.Mutation: a relatively permanent change in hereditary material involving either a physical change in chromosome relations or a molecular change in the nucleotide composition of a sequence that makes up a gene.Polymorphism: a locus in which two or more alleles have gene frequencies greater than 0.01 in a population. When this criterion is not fulfilled, the locus is considered monomorphic. STRP (short tandem repeat polymorphism): a type of genetic variation (polymorphism) in populations that consist of small repeat units (usually two, three, four, or five nucleotide base pairs) that occur in tandem. Also called a microsatellite repeat polymorphism. SNP (single nucleotide polymorphism): polymorphisms that result from variation at a single nucleotide.Variable clinical expression: a trait in which the same genotype may produce phenotypes of varying severity or expression.Allelic heterogeneity: condition in which different alleles at a locus can produce variable expression of a disease.Locus heterogeneity: refers to conditions in which mutations in different genes (loci) can produce the same disease phenotypes.

Association of susceptible genotypes to periodontal disease with the clinical outcome and tooth survival after non-surgical periodontal therapy: A systematic review and meta-analysis

“…Genomic testing has fueled expectations for more effective prevention, earlier diagnosis, better prognosis and guide for the best individualized treatment protocol. Genetic testing has also promised a more successful treatment outcome for patients ( 62 ). The expectations became higher when the personalized dentistry presented to be the future of dentistry ( 63 ).…”

Informational Paper: Implications of Genetic Technology for the Management of Periodontal Diseases

“…It is much more difficult to identify and rigorously demonstrate an etiologic role for a specific gene in a complex genetic disorder. 42,43 In contrast to simple genetic diseases that may be caused by a single genetic mutation, it is likely that the additive effect of multiple genes is a determinant of disease susceptibility in complex diseases such as chronic periodontitis. 24 Prevailing theoretical models of common, complex genetic diseases suggest that five to 10 different genes may be important determinants of susceptibility.…”

Genome technologies and personalized dental medicine

“…As research continues on the genomic influences on disease etiology and the methods of genomic analysis become increasingly practical for use in the clinic, there will come a point when the utilization of genomic technologies in clinical oral health care becomes unavoidable. Genomic testing could allow risk‐based long‐term planning for more effective dental disease prevention, reduce the uncertainty of diagnosis and prognosis, and guide the selection of drugs or treatment protocols that minimize harmful side effects to ensure a more successful outcome for patients (Hart and Ferrell, 2002).…”