25 Genomic medicine in paediatric care for neurodevelopmental disorders: An assessment of practices, attitudes and education needs of Ontario paediatricians
Bibliographic record
Abstract
Abstract Background Non-geneticist healthcare professionals are increasingly responsible for delivering genetics-informed care to individuals and their families affected by neurodevelopmental disorders (NDDs). Developing education tools to support their continuing education will require an understanding of physicians’ current approaches, attitudes and desired resources regarding genomic medicine, in the context of their specialty and healthcare system. Objectives Our goal was to assess paediatricians’ current practices, attitudes, and education needs regarding the provision of genomic medicine to individuals with NDDs in Ontario. Design/Methods We distributed an anonymous electronic questionnaire between April 2023 and June 2023 using online dissemination strategies. Inclusion criteria were paediatricians who self-identify as providing care to patients with NDDs. A multi-disciplinary team of genetic and non-genetic experts and a family partner developed the questionnaire. It had four sections: 1) demographic and clinical practice information, 2) experience with providing genomic medicine, 3) attitudes about providing genomic medicine, 4) education needs. Results One hundred and thirty paediatricians completed the questionnaire (estimated response rate of 10%, based on estimated 1300 Ontario paediatricians with varied practices). General paediatricians comprised 76% of responders; 50% of responders practiced outside a large urban centre. In terms of experience with genomic medicine: 58% of responders always/often discuss genetic testing options with families. Barriers to ordering genetic testing included lack of knowledge, confidence, access to lab services and time. Rates of ordering genetic testing varied by NDD and genetic test. Some paediatricians endorsed outdated testing practices (e.g., 9% order karyotype for patients with autism). Paediatricians also order genetic tests outside of standard clinical guidelines (e.g., 38% order a genetic test for patients with isolated language delay). In terms of attitudes regarding genomic medicine: majority believe that it is important to become educated about delivering genetic services to patients with NDDs. Over 60% strongly agree/agree that a genetic diagnosis may offer improved health management and research access, and about 50% strongly agree/agree that it may offer improved access to medical services and positive psychological impact for families. Commonest barriers to integrating genomic medicine in paediatric care were concerns about unanticipated genetic results, lack of local resources/logistical challenges, and competing psychosocial considerations. In terms of genetic education needs: paediatricians expressed strongest interest in learning about genetic testing (e.g. utility, interpretation, management) and advances in genomic technologies. Conclusion Ontario paediatricians integrate aspects of genomic medicine in the care of individuals with NDDs, though sometimes outside of clinically recommended contexts. They desire more support in optimizing this integration as genomic technologies and information evolve. Our study provides valuable information to guide the creation of genetic education tools to enhance collaborative healthcare for children and youth with NDDs.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.008 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.003 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".