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Design and evaluation of a visual genomic explainer: a mixed-methods study
  1. Grainne Butler1,2,
  2. Camilla Andersen3,
  3. Jim Buttery4,5,
  4. Asheeta Gupta1,6,
  5. Melissa M Martyn5,7,
  6. Zornitza Stark8,9,
  7. Ella Wilkins5,10,
  8. Kushani Jayasinghe5,11,
  9. Catherine Quinlan5,12
  1. 1Kidney Regeneration, Murdoch Children's Research Institute, Parkville, Victoria, Australia
  2. 2Centre For Health Analytics, Royal Children's Hospital Melbourne Department of General Medicine, Parkville, Victoria, Australia
  3. 3School of Law, University of Western Australia Faculty of Law, Perth, Western Australia, Australia
  4. 4Infectious Diseases, Royal Children's Hospital Melbourne, Parkville, Victoria, Australia
  5. 5Murdoch Children's Research Institute, Parkville, Victoria, Australia
  6. 6Paediatrics, University of Bristol, Bristol, UK
  7. 7MGHA, Melbourne Genomics Health Alliance, Melbourne, Victoria, Australia
  8. 8Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia
  9. 9Department of Paediatrics, University of Melbourne, Parkville, Melbourne, Australia
  10. 10Victorian Clinical Genetics Services Ltd, Parkville, Victoria, Australia
  11. 11Nephrology, Monash Health, Clayton, Victoria, Australia
  12. 12Nephrology, Royal Children's Hospital Melbourne, Parkville, Victoria, Australia
  1. Correspondence to Dr Grainne Butler; grainne.butler{at}mcri.edu.au

Abstract

Objective To design and assess a visual genomic explainer focusing on plain language and engaging imagery. The explainer aimed to support doctors’ comprehension of complex genomic concepts and results and act as a resource promoting the integration of genomic testing into mainstream care.

Design Prospective genomic resource development and questionnaire.

Setting Regional and tertiary hospitals in Australia and Ireland, private and community-based clinicians in Australia.

Participants Recruitment of paediatricians and nephrologists in Australia and paediatricians in Ireland was multi-faceted. Emails with survey links were circulated through training bodies, advanced trainee networks, departmental heads, and professional societies.

Main outcome measures Comprehension, engagement and perception of the visual explainer.

Results Most clinicians surveyed (95% (53) Australian group, 100% (29) Irish group) felt that genomics would be a useful tool in their practice. 77% of Australian paediatric respondents and 73% of Irish paediatric respondents felt that genomics was underutilised. Challenges encountered with genomic testing included poor patient comprehension of the testing process and results along with difficulties perceived by clinicians in explaining complex results. 89% of Australian paediatricians and 100% of Irish paediatricians surveyed would recommend the use of the explainer to other professionals in their field.

Conclusion This genomic resource was acceptable to clinicians and could be a useful tool to support paediatricians integrating genomic testing into mainstream care.

  • Paediatrics
  • Genetics
  • Child Health

Data availability statement

Data are available upon reasonable request.

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Data availability statement

Data are available upon reasonable request.

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Footnotes

  • KJ and CQ contributed equally.

  • Contributors GB, CA, JB, AG, MMM, ZS, EW, KJ and CQ were involved in the conception and design of the project. GB, CA and CQ specifically designed the initial format of the resource with genetic oversight from ZS and EW. The first draft of the manuscript was written by GB. All authors contributed to the data interpretation, revised the manuscript, approved the final version and meet the four criteria for authorship as outlined by the ICMJE. GB is the overall guarantor.

  • Funding This research project, encompassing the design and assessment of a visual genomic explainer, was generously funded by the Melbourne Genomics Health Alliance.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.