Participants’ Views and Experiences of Genetic Testing in AI

  • Research type

    Research Study

  • Full title

    Participants’ Views and Experiences of Genetic Testing in Amelogenesis Imperfecta

  • IRAS ID

    293839

  • Contact name

    Raghad Al Attal

  • Contact email

    Dnrzaa@leeds.ac.uk

  • Sponsor organisation

    University of Leeds

  • Clinicaltrials.gov Identifier

    N/A, N/A

  • Duration of Study in the UK

    0 years, 10 months, 4 days

  • Research summary

    Amelogenesis Imperfecta (AI) is a hereditary condition characterised by unusual teeth formation affecting baby and adult teeth to a varying extent. AI can result in teeth of unpleasant appearance or/and of poor function. Chronic conditions such as AI can seriously affect the whole family by increasing psychological stress and financial burden while seeking treatment. Moreover, AI has a significant impact on an individual's quality of life.
    AI follows a hereditary pattern and has no definitive cure. Genetic testing is a reliable tool to confirm the diagnosis of hereditary conditions, like AI. Reaching an accurate diagnosis can reassure patients and provide practitioners with more confidence when identifying treatment options. For that purpose, the NHS has launched a diagnostic gene test, "the 21-gene panel" or AI gene test, to confirm AI diagnosis. The AI gene test is the first gene test implemented in dentistry, and the thoughts on its implementation are still unclear. Exploring these thoughts will support dentists and involved families to work hand-in-hand in achieving the uttermost benefits of this test. Hence, it is crucial to involve families and investigate their awareness and validation of a gene test offered as an option to confirm a diagnosis of hereditary teeth conditions. For that purpose, this project will explore families' thoughts, i.e. expectations and concerns on having genetic testing for AI.

  • REC name

    Wales REC 6

  • REC reference

    22/WA/0083

  • Date of REC Opinion

    11 Mar 2022

  • REC opinion

    Favourable Opinion