Genetic testing for amelogenesis imperfecta: knowledge and attitudes of paediatric dentists

Genetic testing is increasingly applied across healthcare reflecting the value to diagnosis, clinical decision-making, service organisation and advancement of the research-informed evidence base. Patient expectations are changing. Genetic testing has not been part of dental practice. Introduction of an NHS-targeted gene panel test for amelogenesis imperfecta (AI), a heterogeneous genetic disorder affecting enamel appearance and function, represents a paradigm shift. This impacts on specialists in paediatric dentistry and other members of the dental team delivering longitudinal care for individuals with AI.

To evaluate the opinions of paediatric dentists on genetic testing for dental conditions using AI as the exemplar.

Two focus groups of nine UK NHS paediatric dentists each were audio recorded (September 2016) and transcribed verbatim. Qualitative analysis was undertaken using Interpretative Phenomenological Analysis (IPA).

A wide range of views reflected existing insight and understanding. Three core concepts of justification, ownership and challenges emerged. The clinicians were generally open to involvement with genetic testing in paediatric dentistry, but required more support.

Areas for clarification and professional development were identified as important in ensuring that genetic testing in dentistry, which is currently in its infancy, reaches translational potential and enhances patient care as this area of healthcare continues to advance rapidly.