Mainstreaming genomics in the National Health Service in England: a survey to understand preparedness and confidence among paediatricians.

Background: The National Health Service in the UK is the first national healthcare system to offer genomic sequencing for rare disease diagnosis as routine care. Non-genetic medical specialists, including paediatricians, can now request genomic testing for certain clinical indications. The primary purpose of this study was to evaluate the preparedness and confidence of paediatricians providing genomic sequencing in England. In addition, we assessed current practice, perceived utility of testing, barriers and enablers, prior genomics education and training preferences.

Methods: A 26-item electronic survey for completion by paediatric specialists. Participants were recruited through national associations and a conference. Quantitative items were analysed using descriptive and inferential statistics. Open-ended question responses were analysed by qualitative content analysis.

Results: 157 responses were included in the analysis. Only 49.0% reported feeling prepared for mainstreaming despite 75.0% reporting they had requested testing in the past 12 months, 47.7% indicating they had returned genomic sequencing results and 67.1% feeling genomic testing was useful. Mean confidence scores were lowest for tasks including using human phenotype ontology terminology on test request forms (3.9/10), interpreting genomic test results (4.8/10), discussing complex genomic results with patients and families (4.3/10) and integrating test results into patient care (4.7/10). Significantly higher average ranked genomic confidence was identified among those who had requested testing in the last 12 months compared with those who had not (Z=5.063, p<0.001, r=0.412). The most frequent barriers to mainstreaming were lack of training and knowledge (43.3%), determining patient eligibility (28.0%), lack of time (27.4%) and confidence (25.5%). Webinars (48.4%), followed by continued professional development meetings and/or conferences (38.9%), were the preferred mode of training.

Conclusions: Our data suggest that preparedness and confidence among paediatricians in genomics is currently lacking. Support from clinical genetics services, simplified referral forms and webinar training sessions could improve current practice.