Skip to main content
Log in

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

Journal of Genetic Counseling

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4

References

  • Abhyankar, P., Volk, R. J., Blumenthal-Barby, J., Bravo, P., Buchholz, A., Ozanne, E., et al. (2013). Balancing the presentation of information and options in patient decision aids: an updated review. BMC Medical Informatics and Decision Making, 13(Suppl 2), S6.

    Article  PubMed  PubMed Central  Google Scholar 

  • Australian Bureau of Statistics. (2015). Education and work, Australia, cat. no. 6227.0. viewed 17 November 2016, http://www.abs.gov.au/AUSSTATS/abs@.nsf/Lookup/6227.0Main+Features1May%202015?OpenDocument.

  • Ballinger, M. L., Goode, D. L., Ray-Coquard, I., James, P. A., Mitchell, G., Niedermayr, E., et al. (2016). Monogenic and polygenic determinants of sarcoma risk: an international genetic study. Lancet Oncology, 17(9), 1261–1271.

    Article  PubMed  Google Scholar 

  • Beauchamp, T. L., & Childress, J. F. (2009). Principles of biomedical ethics. New York: Oxford University Press.

    Google Scholar 

  • Berkman, N. D., Sheridan, S. L., Donahue, K. E., Halpern, D. J., & Crotty, K. (2011). Low health literacy and health outcomes: an updated systematic review. Annals of Internal Medicine, 155(2), 97–107.

    Article  PubMed  Google Scholar 

  • Bleiker, E., Wigbout, G., van Rens, A., Verhoef, S., Van't Veer, L., & Aaronson, N. (2005). Withdrawal from genetic counselling for cancer. Hereditary Cancer in Clinical Practice, 3(1), 19–27.

    Article  PubMed  PubMed Central  Google Scholar 

  • Bollinger, J. M., Scott, J., Dvoskin, R., & Kaufman, D. (2012). Public preferences regarding the return of individual genetic research results: findings from a qualitative focus group study. Genetics in Medicine, 14(4), 451–457.

    Article  PubMed  PubMed Central  Google Scholar 

  • Braithwaite, D., Emery, J., Walter, F., Prevost, A. T., & Sutton, S. (2004). Psychological impact of genetic counseling for familial cancer: a systematic review and meta-analysis. Journal of the National Cancer Institute, 96(2), 122–133.

    Article  PubMed  Google Scholar 

  • Clerehan, R., Buchbinder, R., & Moodie, J. (2005). A linguistic framework for assessing the quality of written patient information: its use in assessing methotrexate information for rheumatoid arthritis. Health Education Research, 20(3), 334–344.

    Article  PubMed  Google Scholar 

  • Coulter, A., Stilwell, D., Kryworuchko, J., Mullen, P. D., Ng, C. J., & van der Weijden, T. (2013). A systematic development process for patient decision aids. BMC Medical Informatics and Decision Making, 13(2), S2.

    Article  PubMed  PubMed Central  Google Scholar 

  • Crook, A., Plunkett, L., Forrest, L. E., Hallowell, N., Wake, S., Alsop, K., et al. (2015). Connecting patients, researchers and clinical genetics services: the experiences of participants in the Australian Ovarian Cancer Study (AOCS). European Journal of Human Genetics, 23(2), 152–158.

    Article  PubMed  Google Scholar 

  • Delikurt, T., Williamson, G. R., Anastasiadou, V., & Skirton, H. (2015). A systematic review of factors that act as barriers to patient referral to genetic services. European Journal of Human Genetics, 23(6), 739–745.

    Article  PubMed  Google Scholar 

  • Durand, M. A., Witt, J., Joseph-Williams, N., Newcombe, R. G., Politi, M. C., Sivell, S., et al. (2015). Minimum standards for the certification of patient decision support interventions: feasibility and application. Patient Education and Counseling, 98(4), 462–468.

    Article  PubMed  Google Scholar 

  • Gillon, R. (1994). Medical ethics: four principles plus attention to scope. BMJ, 309(6948), 184.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Greene, J., & Hibbard, J. H. (2012). Why does patient activation matter? An examination of the relationships between patient activation and health-related outcomes. Journal of General Internal Medicine, 27(5), 520–526.

    Article  PubMed  Google Scholar 

  • Halbert, C. H., Kessler, L., Collier, A., Weathers, B., Stopfer, J., Domchek, S., et al. (2012). Low rates of African American participation in genetic counseling and testing for BRCA1/2 mutations: racial disparities or just a difference? Journal of Genetic Counseling, 21(5), 676–683.

    Article  PubMed  PubMed Central  Google Scholar 

  • Hallowell, N., Alsop, K., Gleeson, M., Crook, A., Plunkett, L., Bowtell, D., et al. (2013). The responses of research participants and their next of kin to receiving feedback of genetic test results following participation in the Australian Ovarian Cancer Study. Genetics in Medicine, 15(6), 458–465.

    Article  CAS  PubMed  Google Scholar 

  • Hawley, S. T., Zikmund-Fisher, B., Ubel, P., Jancovic, A., Lucas, T., & Fagerlin, A. (2008). The impact of the format of graphical presentation on health-related knowledge and treatment choices. Patient Education and Counseling, 73(3), 448–455.

    Article  PubMed  Google Scholar 

  • Heshka, J. T., Palleschi, C., Howley, H., Wilson, B., & Wells, P. S. (2008). A systematic review of perceived risks, psychological and behavioral impacts of genetic testing. Genetics in Medicine, 10(1), 19–32.

    Article  PubMed  Google Scholar 

  • Houts, P. S., Doak, C. C., Doak, L. G., & Loscalzo, M. J. (2006). The role of pictures in improving health communication: a review of research on attention, comprehension, recall, and adherence. Patient Education and Counseling, 61(2), 173–190.

    Article  PubMed  Google Scholar 

  • Institute of Medicine. (2004). Health literacy: a prescription to end confusion. Washington, DC: The National Academies Press.

    Google Scholar 

  • Joseph-Williams, N., Newcombe, R., Politi, M., Durand, M. A., Sivell, S., Stacey, D., et al. (2014). Toward minimum standards for certifying patient decision aids: a modified Delphi consensus process. Medical Decision Making, 34(6), 699–710.

    Article  PubMed  Google Scholar 

  • Kasparian, N. A., Meiser, B., Butow, P. N., Simpson, J. M., & Mann, G. J. (2009). Genetic testing for melanoma risk: a prospective cohort study of uptake and outcomes among Australian families. Genetics in Medicine, 11(4), 265–278.

    Article  PubMed  Google Scholar 

  • Keogh, L. A., Southey, M. C., Maskiell, J., Young, M. A., Gaff, C. L., Kirk, J., et al. (2004). Uptake of offer to receive genetic information about BRCA1 and BRCA2 mutations in an Australian population-based study. Cancer Epidemiology, Biomarkers and Prevention, 13(12), 2258–2263.

    PubMed  Google Scholar 

  • Mai, P. L., Vadaparampil, S. T., Breen, N., McNeel, T. S., Wideroff, L., & Graubard, B. I. (2014). Awareness of cancer susceptibility genetic testing: the 2000, 2005, and 2010 National Health Interview Surveys. American Journal of Preventive Medicine, 46(5), 440–448.

    Article  PubMed  PubMed Central  Google Scholar 

  • Maio, M., Carrion, P., Yaremco, E., & Austin, J. C. (2013). Awareness of genetic counseling and perceptions of its purpose: a survey of the Canadian public. Journal of Genetic Counseling, 22(6), 762–770.

    Article  PubMed  PubMed Central  Google Scholar 

  • McAllister, M., & Dearing, A. (2015). Patient reported outcomes and patient empowerment in clinical genetics services. Clinical Genetics, 88(2), 114–121.

    Article  CAS  PubMed  Google Scholar 

  • McBride, K., Hallowell, N., Tattersall, M. N., Kirk, J., Ballinger, M., Thomas, D., et al. (2016). Timing and context: important considerations in the return of genetic results to research participants. Journal of Community Genetics, 7(1), 11–20.

    Article  PubMed  Google Scholar 

  • McCaffery, K. J., Holmes-Rovner, M., Smith, S. K., Rovner, D., Nutbeam, D., Clayman, M. L., et al. (2013). Addressing health literacy in patient decision aids. BMC Medical Informatics and Decision Making, 13(Suppl 2), S10.

    Article  PubMed  PubMed Central  Google Scholar 

  • McPherson, C. J., Higginson, I. J., & Hearn, J. (2001). Effective methods of giving information in cancer: a systematic literature review of randomized controlled trials. Journal of Public Health Medicine, 23(3), 227–234.

    Article  CAS  PubMed  Google Scholar 

  • Meiser, B. (2005). Psychological impact of genetic testing for cancer susceptibility: an update of the literature. Psycho-Oncology, 14(12), 1060–1074.

    Article  PubMed  Google Scholar 

  • Metcalfe, A., Werrett, J., Burgess, L., & Clifford, C. (2007). Psychosocial impact of the lack of information given at referral about familial risk for cancer. Psycho-Oncology, 16(5), 458–465.

    Article  PubMed  Google Scholar 

  • Mitchell, G., Ballinger, M. L., Wong, S., Hewitt, C., James, P., Young, M. A., et al. (2013). High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. PLoS One, 8(7), e69026.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Molster, C., Charles, T., Samanek, A., & O'Leary, P. (2009). Australian study on public knowledge of human genetics and health. Public Health Genomics, 12(2), 84–91.

    Article  CAS  PubMed  Google Scholar 

  • Nelson, H. D., Pappas, M., Zakher, B., Mitchell, J. P., Okinaka-Hu, L., & Fu, R. (2014). Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation. Annals of Internal Medicine, 160(4), 255–266.

    Article  PubMed  Google Scholar 

  • Ratnayake, P., Wakefield, C., Meiser, B., Suthers, G., Price, M., Duffy, J., et al. (2011). An exploration of the communication preferences regarding genetic testing in individuals from families with identified breast/ovarian cancer mutations. Familial Cancer, 10(1), 97–105.

    Article  PubMed  Google Scholar 

  • Smit, A. K., Keogh, L. A., Hersch, J., Newson, A. J., Butow, P., Williams, G., et al. (2016). Public preferences for communicating personal genomic risk information: a focus group study. Health Expectations, 19(6), 1203–1214.

    Article  PubMed  Google Scholar 

  • Stacey, D., Legare, F., Col, N. F., Bennett, C. L., Barry, M. J., Eden, K., et al. (2017). Decision aids for people facing health treatment or screening decisions. The Cochrane Database of Systematic Reviews, 4, CD001431.

    PubMed  Google Scholar 

  • Thorne, H., Mitchell, G., & Fox, S. (2011). kConFab: a familial breast cancer consortium facilitating research and translational oncology. Journal of the National Cancer Institute. Monographs, 2011(43), 79–81.

    Article  PubMed  Google Scholar 

  • Vadaparampil, S. T., Quinn, G. P., Miree, C. A., Brzosowicz, J., Carter, B., & Laronga, C. (2009). Recall of and reactions to a surgeon referral letter for BRCA genetic counseling among high-risk breast cancer patients. Annals of Surgical Oncology, 16(7), 1973–1981.

    Article  PubMed  Google Scholar 

  • Wakefield, C. E., Meiser, B., Homewood, J., Peate, M., Kirk, J., Warner, B., et al. (2007). Development and pilot testing of two decision aids for individuals considering genetic testing for cancer risk. Journal of Genetic Counseling, 16(3), 325–339.

    Article  PubMed  Google Scholar 

  • Wakefield, C. E., Ratnayake, P., Meiser, B., Suthers, G., Price, M. A., Duffy, J., et al. (2011a). “For all my family’s sake, I should go and find out”: an Australian report on genetic counseling and testing uptake in individuals at high risk of breast and/or ovarian cancer. Genetic Testing and Molecular Biomarkers, 15(6), 379–385.

    Article  PubMed  Google Scholar 

  • Wakefield, C. E., Watts, K. J., Meiser, B., Sansom-Daly, U., Barratt, A., Mann, G. J., et al. (2011b). Development and pilot testing of an online screening decision aid for men with a family history of prostate cancer. Patient Education and Counseling, 83(1), 64–72.

    Article  PubMed  Google Scholar 

  • Wakefield, C. E., Thorne, H., Kirk, J., Niedermayr, E., Doolan, E. L., & Tucker, K. (2013). Improving mutation notification when new genetic information is identified in research: a trial of two strategies in familial breast cancer. Genetics in Medicine, 15(3), 187–194.

    Article  PubMed  Google Scholar 

  • Weingart, S. N., Zhu, J., Chiappetta, L., Stuver, S. O., Schneider, E. C., Epstein, A. M., et al. (2011). Hospitalized patients’ participation and its impact on quality of care and patient safety. International Journal for Quality in Health Care, 23(3), 269–277.

    Article  PubMed  PubMed Central  Google Scholar 

  • Willis, A. M., Smith, S. K., Meiser, B., Ballinger, M. L., Thomas, D. M., & Young, M. A. (2017). Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review. Clinical Genetics, 92(2), 121–133.

    Article  CAS  PubMed  Google Scholar 

  • Young, M. A., Herlihy, A., Mitchell, G., Thomas, D. M., Ballinger, M., Tucker, K., et al. (2013). The attitudes of people with sarcoma and their family towards genomics and incidental information arising from genetic research. Clinical Sarcoma Research, 3(1), 11.

    Article  PubMed  PubMed Central  Google Scholar 

Download references

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).

Author information

Authors and Affiliations

Authors

Consortia

Corresponding author

Correspondence to Amanda M. Willis.

Ethics declarations

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.

Electronic supplementary material

ESM 1

(DOCX 18 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Willis, A.M., Smith, S.K., Meiser, B. et al. Development and Pilot Testing of a Decision Aid for Genomic Research Participants Notified of Clinically Actionable Research Findings for Cancer Risk. J Genet Counsel 27, 1055–1066 (2018). https://doi.org/10.1007/s10897-018-0223-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10897-018-0223-y

Keywords

Navigation