Literature DB >> 30141472

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

F McDowall1,2, K Kenny1, A J Mighell3, R C Balmer1,2.   

Abstract

Introduction: 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. Aim: To evaluate the opinions of paediatric dentists on genetic testing for dental conditions using AI as the exemplar. Method: 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).
Results: 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.
Conclusion: 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.

Entities:  

Mesh:

Year:  2018        PMID: 30141472     DOI: 10.1038/sj.bdj.2018.641

Source DB:  PubMed          Journal:  Br Dent J        ISSN: 0007-0610            Impact factor:   1.626


  12 in total

1.  The psychosocial impact of developmental dental defects in people with hereditary amelogenesis imperfecta.

Authors:  Kristina D Coffield; Ceib Phillips; Melissa Brady; Michael W Roberts; Ronald P Strauss; J Timothy Wright
Journal:  J Am Dent Assoc       Date:  2005-05       Impact factor: 3.634

2.  Consolidated criteria for reporting qualitative research (COREQ): a 32-item checklist for interviews and focus groups.

Authors:  Allison Tong; Peter Sainsbury; Jonathan Craig
Journal:  Int J Qual Health Care       Date:  2007-09-14       Impact factor: 2.038

3.  How do children with amelogenesis imperfecta feel about their teeth?

Authors:  Susan Parekh; Mohammad Almehateb; Sue J Cunningham
Journal:  Int J Paediatr Dent       Date:  2013-11-27       Impact factor: 3.455

Review 4.  Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification.

Authors:  C J Witkop
Journal:  J Oral Pathol       Date:  1988-11

Review 5.  Interventions for the restorative care of amelogenesis imperfecta in children and adolescents.

Authors:  Mayssoon Dashash; C Albert Yeung; Issam Jamous; Anthony Blinkhorn
Journal:  Cochrane Database Syst Rev       Date:  2013-06-06

Review 6.  Amelogenesis imperfecta.

Authors:  Peter J M Crawford; Michael Aldred; Agnes Bloch-Zupan
Journal:  Orphanet J Rare Dis       Date:  2007-04-04       Impact factor: 4.123

7.  Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Authors:  Graciana Jaureguiberry; Muriel De la Dure-Molla; David Parry; Mickael Quentric; Nina Himmerkus; Toshiyasu Koike; James Poulter; Enriko Klootwijk; Steven L Robinette; Alexander J Howie; Vaksha Patel; Marie-Lucile Figueres; Horia C Stanescu; Naomi Issler; Jeremy K Nicholson; Detlef Bockenhauer; Christopher Laing; Stephen B Walsh; David A McCredie; Sue Povey; Audrey Asselin; Arnaud Picard; Aurore Coulomb; Alan J Medlar; Isabelle Bailleul-Forestier; Alain Verloes; Cedric Le Caignec; Gwenaelle Roussey; Julien Guiol; Bertrand Isidor; Clare Logan; Roger Shore; Colin Johnson; Christopher Inglehearn; Suhaila Al-Bahlani; Matthieu Schmittbuhl; François Clauss; Mathilde Huckert; Virginie Laugel; Emmanuelle Ginglinger; Sandra Pajarola; Giuseppina Spartà; Deborah Bartholdi; Anita Rauch; Marie-Claude Addor; Paulo M Yamaguti; Heloisa P Safatle; Ana Carolina Acevedo; Hercílio Martelli-Júnior; Pedro E dos Santos Netos; Ricardo D Coletta; Sandra Gruessel; Carolin Sandmann; Denise Ruehmann; Craig B Langman; Steven J Scheinman; Didem Ozdemir-Ozenen; Thomas C Hart; P Suzanne Hart; Ute Neugebauer; Eberhard Schlatter; Pascal Houillier; William A Gahl; Miikka Vikkula; Agnès Bloch-Zupan; Markus Bleich; Hiroshi Kitagawa; Robert J Unwin; Alan Mighell; Ariane Berdal; Robert Kleta
Journal:  Nephron Physiol       Date:  2013-02-23

Review 8.  Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.

Authors:  Muriel de la Dure-Molla; Mickael Quentric; Paulo Marcio Yamaguti; Ana-Carolina Acevedo; Alan J Mighell; Miikka Vikkula; Mathilde Huckert; Ariane Berdal; Agnes Bloch-Zupan
Journal:  Orphanet J Rare Dis       Date:  2014-06-14       Impact factor: 4.123

Review 9.  Delivery of a clinical genomics service.

Authors:  William G Newman; Graeme C Black
Journal:  Genes (Basel)       Date:  2014-11-06       Impact factor: 4.096

Review 10.  Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

Authors:  Claire E L Smith; James A Poulter; Agne Antanaviciute; Jennifer Kirkham; Steven J Brookes; Chris F Inglehearn; Alan J Mighell
Journal:  Front Physiol       Date:  2017-06-26       Impact factor: 4.566

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