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Journal of Genetic Counseling

, Volume 27, Issue 5, pp 1055–1066 | Cite as

Development and Pilot Testing of a Decision Aid for Genomic Research Participants Notified of Clinically Actionable Research Findings for Cancer Risk

  • Amanda M. Willis
  • Sian K. Smith
  • Bettina Meiser
  • Mandy L. Ballinger
  • David M. Thomas
  • Martin Tattersall
  • the International Sarcoma Kindred Study (ISKS)
  • the Kathleen Cuningham National Consortium for Research into Familial Breast Cancer (kConFab)
  • Mary-Anne Young
Original Research

Abstract

Germline genomic testing is increasingly used in research to identify genetic causes of disease, including cancer. However, there is evidence that individuals who are notified of clinically actionable research findings have difficulty making informed decisions regarding uptake of genetic counseling for these findings. This study aimed to produce and pilot test a decision aid to assist participants in genomic research studies who are notified of clinically actionable research findings to make informed choices regarding uptake of genetic counseling. Development was guided by published literature, the International Patient Decision Aid Standards, and the expertise of a steering committee of clinicians, researchers, and consumers. Decision aid acceptability was assessed by self-report questionnaire. All 19 participants stated that the decision aid was easy to read, clearly presented, increased their understanding of the implications of taking up research findings, and would be helpful in decision-making. While low to moderate levels of distress/worry were reported after reading the booklet, a majority of participants also reported feeling reassured. All participants would recommend the booklet to others considering uptake of clinically actionable research findings. Results indicate the decision aid is acceptable to the target audience, with potential as a useful decision support tool for genomic research participants.

Keywords

Cancer Germline genomic testing Decision aid Decision support Genetic counseling Hereditary cancer Notification 

Notes

Acknowledgements

We thank Leigh Webb and Ross Pagram for their invaluable contribution to the decision aid development as consumers, Emma Galligan for her help with study coordination, and the study participants for giving their time to review the decision aid and provide feedback. We acknowledge the support of ISKS collaborators and staff and thank the patients and their families for their contributions to the research study. We also wish to thank Heather Thorne, Eveline Niedermayr, all the kConFab research nurses and staff, the heads and staff of the Family Cancer Clinics, and the Clinical Follow Up Study (which has received funding from the NHMRC, the National Breast Cancer Foundation, Cancer Australia, and the National Institute of Health (USA)) for their contributions to this resource, and the many families who contribute to kConFab. kConFab is supported by a grant from the National Breast Cancer Foundation and previously by the National Health and Medical Research Council (NHMRC), the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. This research was conducted in partial fulfillment of a PhD degree for Amanda Willis, who is supported by an Australian Government Research Training Scholarship.

Funding

This study was funded by a Cancer Australia Priority-Driven Collaborative Cancer Research Grant, APP1067094. Bettina Meiser is a National Health and Medical Research Council Senior Research Fellow (ID 1078523). David Thomas is a National Health and Medical Research Council Principal Research Fellow (ID 1104364).

Compliance with Ethical Standards

Conflict of Interest

Amanda M. Willis, Sian K. Smith, Bettina Meiser, Mandy L. Ballinger, David M. Thomas, Martin Tattersall, the International Sarcoma Kindred Study (ISKS), the Kathleen Cuningham National Consortium for Research into Familial Breast Cancer (kConFab), and Mary-Anne Young declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

Supplementary material

10897_2018_223_MOESM1_ESM.docx (18 kb)
ESM 1 (DOCX 18 kb)

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Copyright information

© National Society of Genetic Counselors, Inc. 2018

Authors and Affiliations

  • Amanda M. Willis
    • 1
  • Sian K. Smith
    • 1
  • Bettina Meiser
    • 1
  • Mandy L. Ballinger
    • 2
  • David M. Thomas
    • 2
  • Martin Tattersall
    • 3
  • the International Sarcoma Kindred Study (ISKS)
  • the Kathleen Cuningham National Consortium for Research into Familial Breast Cancer (kConFab)
    • 4
  • Mary-Anne Young
    • 2
    • 5
  1. 1.Psychosocial Research Group, Prince of Wales Clinical SchoolUNSW AustraliaSydneyAustralia
  2. 2.The Kinghorn Cancer Centre and Cancer DivisionGarvan Institute of Medical ResearchDarlinghurstAustralia
  3. 3.Department of Cancer MedicineSydney Medical School, Royal Prince Alfred HospitalCamperdownAustralia
  4. 4.The Peter MacCallum Cancer Center and The Sir Peter MacCallum Department of OncologyThe University of MelbourneMelbourneAustralia
  5. 5.Familial Cancer Centre, The Peter MacCallum Cancer CentreMelbourneAustralia

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