Paediatric Dentistry Department, Leeds Dental Institute, University of Leeds, United Kingdom.
Harrogate and District Foundation Trust, North Yorkshire Community Dental Services, United Kingdom.
Br Dent J. 2018 Aug 24;225(4):335-339. doi: 10.1038/sj.bdj.2018.641.
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.
遗传检测在医疗保健领域的应用日益广泛，这反映了其在诊断、临床决策、服务组织以及推进基于研究证据的基础方面的价值。患者的期望正在发生变化。遗传检测尚未成为牙科实践的一部分。引入 NHS 针对牙釉质不全（AI）的基因检测面板，这是一种影响牙釉质外观和功能的异质性遗传疾病，代表着范式的转变。这对儿科牙医以及为 AI 患者提供纵向护理的其他牙科团队成员产生了影响。
以 AI 为例，评估儿科牙医对牙科疾病遗传检测的意见。
2016 年 9 月，对英国 NHS 系统的 9 名儿科牙医进行了两次焦点小组访谈（每组 9 名），并进行了逐字转录。使用解释现象学分析（IPA）进行定性分析。
各种观点反映了现有的洞察力和理解。出现了三个核心概念，即正当性、所有权和挑战。临床医生普遍对参与儿科牙科的遗传检测持开放态度，但需要更多的支持。
确定了需要澄清和专业发展的领域，这对于确保牙科领域的遗传检测（目前尚处于起步阶段）实现转化潜力并增强患者护理至关重要，因为该领域的医疗保健正在迅速发展。
