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  • Development of a person-centred digital platform for the long-term support of people living with an adult-onset genetic disease predisposition: a mixed-methods study protocol

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Genetics and genomics
Protocol
Development of a person-centred digital platform for the long-term support of people living with an adult-onset genetic disease predisposition: a mixed-methods study protocol
  1. Stephanie Best1,2,
  2. Abdullah Al Mahmud3,
  3. Shivani Tyagi4,
  4. Jack C W Wheeler5,
  5. Abdur Rahim Mohammad Forkan6,
  6. Alexandra Lewis5,
  7. Nadeem Shuakat6,7,
  8. Rohit Kaul6,
  9. Aisha Ward5,
  10. Nilmini Wickramasinghe7,8,
  11. Prem Prakash Jayaraman6,
  12. Alison H Trainer1,5
  1. 1Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia
  2. 2Department of Health Services Research, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia
  3. 3Centre for Design Innovation, Department of Architectural and Industrial Design, Swinburne University of Technology, Hawthorn, Victoria, Australia
  4. 4Department of Communication Design, School of Design and Architecture, Swinburne University of Technology, Hawthorn, Victoria, Australia
  5. 5Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia
  6. 6Department of Computing Technologies, Swinburne University of Technology, Hawthorn, Victoria, Australia
  7. 7Department of Health Sciences and Biostatistics, School of Health Sciences, Swinburne University of Technology, Hawthorn, Victoria, Australia
  8. 8Iverson Health Innovation Research Institute, Swinburne University of Technology, Hawthorn, Victoria, Australia
  1. Correspondence to Dr Alison H Trainer; Alison.Trainer{at}Petermac.org

Abstract

Introduction Individuals at an inherited high-risk of developing adult-onset disease, such as breast cancer, are rare in the population. These individuals require lifelong clinical, psychological and reproductive assistance. After a positive germline test result, clinical genetic services provide support and care coordination. However, ongoing systematic clinical follow-up programmes are uncommon. Digital health solutions offer efficient and sustainable ways to deliver affordable and equitable care. This paper outlines the codesign and development of a digital health platform to facilitate long-term clinical and psychological care, and foster self-efficacy in individuals with a genetic disease predisposition.

Methods and analysis We adopt a mixed-methods approach for data gathering and analysis. Data collection is in two phases. In phase 1, 300 individuals with a high-risk genetic predisposition to adult disease will undertake an online survey to assess their use of digital health applications (apps). In phase 2, we will conduct focus groups with 40 individuals with a genetic predisposition to cardiac or cancer syndromes, and 30 clinicians from diverse specialities involved in their care. These focus groups will inform the platform’s content, functionality and user interface design, as well as identify the barriers and enablers to the adoption and retention of the platform by all endusers. The focus groups will be audiorecorded and transcribed, and thematic and content data analysis will be undertaken by adopting the Unified Theory of Acceptance and Use of Technology. Descriptive statistics will be calculated from the survey data. Phase 3 will identify the core skillsets for a novel digital health coordinator role. Outcomes from phases 1 and 2 will inform development of the digital platform, which will be user-tested and optimised in phase 4.

Ethics and dissemination This study was approved by the Peter MacCallum Human Research Ethics Committee (HREC/88892/PMCC). Results will be disseminated in academic forums, peer-reviewed publications and used to optimise clinical care.

  • Cancer genetics
  • Cardiology
  • Information technology
http://creativecommons.org/licenses/by-nc/4.0/

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

https://doi.org/10.1136/bmjopen-2022-071492

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    Footnotes

    • PPJ and AHT are joint senior authors.

    • Contributors AHT, SB, PPJ, AAM, ST, ARMF and NW designed this study and in conjunction with JCWW, AL, NS, RK and AW were instrumental in obtaining HREC approval. All authors were responsible for drafting, editing and finalising this manuscript. The manuscript has been approved by all authors.

    • Funding This work was supported jointly by Peter MacCallum Cancer Centre, Swinburne University of Technology and Digital Health CRC Limited (DHCRC). Grant award number: DHCRC -0131. DHCRC is funded under the Commonwealth’s Cooperative Research Centres Program.

    • Competing interests None declared.

    • Patient and public involvement Patients and/or the public were involved in the design, or conduct, or reporting, or dissemination plans of this research. Refer to the Methods section for further details.

    • 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.