Genetic Testing for AI
The AI genetic panel test is available within NHS England and should detect relevant variant(s) that is/are causative for AI. There is also ongoing work within the Paediatric specialist dental workforce for access to this test within NHS Scotland.
Justification for AI genetic testing
The primary dentition is often less obviously affected than the secondary dentitions. Most children with AI do not have obvious other health problems at the point of presentation. Early molecular diagnosis to identify those individuals where other healthcare issues should be a consideration. This includes potential to identify genes predictive of future renal disease, skeletal changes or undifferentiated syndromes.
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Other benefits include, but are not limited to:
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A family knowing the cause of AI that is important to their own understanding of themselves, but that may also impact on decision about having a family.
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Prompting targeted investigation and related care in instances that identify potential systemic conditions
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Development of a new classification for AI that is much needed
Genetic Testing Process
The CEN has supported upskilling of the Paediatric Dental workforce in provision of AI genetic testing and has collaborated with the Genomics Education Programme to support this. This includes explanation of this test to families, gaining consent, the genomics testing process and interpretation of results. Local liaison with clinical genetics also forms an important aspect.
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Informed consent can be gained by a trained Paediatric Dentist, a blood sample obtained through local processes and the sample sent for processing to genetics through established pathways. The current timescale for results is up to 6 months. The result is returned to the requesting Paediatric Dentist and can be explained to the family. Clinical genetics may be appropriately involved at any stage of the process.
How to approach genetic consenting process?
Please click on link below to listen to SoundCloud link from Genomics England about how to approach Genomic Testing in Paediatric Dentistry.