Background
Amelogenesis Imperfecta (AGI) is a hereditary dental condition affecting enamel quality and
quantity, with significant functional and psychosocial consequences. Although genetic testing
is available within NHS dental pathways, little is known about how parents perceive and
experience this process when it is offered for their child.
Aims
This study aimed to explore parents’ views, motivations, concerns, and experiences in
relation to AGI genetic testing, with particular attention to the perceived benefits and barriers
influencing decision-making.
Methods
A qualitative study was undertaken using semi-structured interviews with 14 parents whose
children had been offered genetic testing for AGI via an NHS targeted 21-gene panel test.
Participants included parents who both accepted and declined testing, allowing for a range of
perspectives. Interviews were conducted virtually via Zoom between November 2022 and
April 2023. Each interview lasted approximately 45–60 minutes and was audio-recorded and
transcribed verbatim. Data were analysed using reflexive thematic analysis (RTA). Ethical
approval was granted by the UK Research Ethics Committee (IRAS Project ID: 293839) and
the Leeds Research and Innovation Department (R&I No: DT22/148476). Verbal consent
was obtained and recorded in line with ethical guidance and COVID-19 safety procedures.
Results
Four themes were developed from the data: (1) wanting an “explanation” for tooth
appearance; (2) not feeling “listened to” or taken seriously by their dentist; (3) increasing
awareness of AGI through diagnosis; and (4) AGI not viewed as a “serious condition”.
Parents’ decisions were shaped not only by clinical considerations, but also by emotional and
social factors. For many, genetic testing provided validation, reassurance, and relief from
guilt by helping to reframe the condition as hereditary rather than attributable to parental
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actions. It also strengthened parents’ confidence in advocating for their child and navigating
care. However, some parents questioned the necessity of testing, particularly when AGI was
perceived as mild or manageable. Hesitations were influenced by practical concerns,
including the invasiveness of blood testing, uncertainty about what the results might reveal,
and limited guidance from general dental practitioners.
Conclusion
This study shows that parents’ decisions about AGI genetic testing are shaped by more than
clinical rationale alone. Genetic testing was experienced not simply as a diagnostic
procedure, but as a source of legitimacy, reassurance, and support for advocacy within both
healthcare and family contexts. Even among parents who declined testing, many recognised
its broader value for family awareness, future generations, and research. The findings
highlight the importance of family-centred and psychologically informed approaches to
genetic testing in dentistry, supported by clear communication, professional understanding,
and appropriate support for decision-making.
