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G630(P) The paediatrician as a clinical geneticist – how confident are paediatricians in this new role?
  1. F Price-Kuehne
  1. Paediatrics, Cambridge University Hospitals, Cambridge, UK

Abstract

Background The field of Genetics is no longer restricted to the work of a Clinical Geneticist. Paediatricians are now routinely requesting genetic testing, receiving genetic reports and reporting results back to families. However, the vast majority of Paediatricians have no specific training or experience in Clinical Genetics.

Aims

  • Identify current practices in seeking consent/assent for genetic testing in Paediatric specialties

  • Assess how confident Paediatricians are explaining genetic tests to families, children and young people

Methods An online, anonymous survey was sent to Paediatric trainees and consultants in Spring 2018.

Results 50 Paediatricians participated. The majority (40%,n=20) were from General Paediatrics, with the other 60% representing Paediatric Neurology, Rheumatology, Gastroenterology, Oncology, Neonatology and Community Paediatrics. 44% of participants were Paediatric Consultants and 56% were Paediatric Trainees.

Only 20% of participants were using an official consent form when requesting genetic testing, and the majority (62%) of participants did not seek assent from the child or young person.

Confidence in explaining genetic testing was low, with up to 78% of participants not confident in explaining different types of testing to families (table 1).

Abstract G630(P) Table 1

Conclusions This study demonstrates a lack of consistency in seeking consent/assent from children and young people for genetic testing.

Strikingly, the study also highlights a distinct lack of confidence amongst Paediatricians in explaining genetic testing to families.

As genetic testing becomes commonplace in Paediatrics, there is an urgent need to educate the paediatric workforce in preparation for this.

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