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Development and Evaluation of a Telephone Communication Protocol for the Delivery of Personalized Melanoma Genomic Risk to the General Population

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

Communicating personalized genomic risk results for common diseases to the general population as a form of tailored prevention is novel and may require alternative genetic counseling service delivery models. We describe the development and evaluation of a communication protocol for disclosing melanoma genomic risk information to the asymptomatic general population and assess participants’ satisfaction and acceptability. Participants (n = 117) were aged 22–69 years, living in New South Wales, Australia and unselected for family history. They provided a saliva sample and had genomic testing for melanoma for low to moderate penetrant melanoma susceptibility variants in 21 genes. Participants could choose to receive their results from a genetic counselor via telephone, followed by a mailed booklet or to receive their risk result via mailed booklet only with a follow-up call for those at high risk. A follow-up questionnaire was completed by 85% of participants 3-months later. Most participants (80%) elected to receive their result via telephone. Participants were highly satisfied with the delivery of results (mean 3.4 out of 4, standard deviation 0.5), and this did not differ by delivery mode, risk category, age or sex. On follow-up, 75% accurately recalled their risk category, 6% indicated a preference for a different delivery mode, either electronic or face-to-face. The process of disclosing genomic risk results to the general population over the telephone with accompanying written material was feasible and acceptable, and may be useful for communicating polygenic risk for common diseases in the context of increasing demands for genomic testing.

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Acknowledgements

The study would like to thank Elvira Zilliacus for her contribution. This study received funding from Sydney Catalyst Translational Cancer Research Centre and The University of Sydney Cancer Strategic Priority Area for Research Collaboration (SPARC) Implementation Scheme. A.E. Cust received Career Development Fellowships from the National Health and Medical Research Council of Australia (NHMRC; 1063593) and Cancer Institute NSW (15/CDF/1-14). A.K. Smit received a Research Training Program (RTP) Stipend Scholarship and a Merit Top Up Scholarship from the University of Sydney, and a Top Up Scholar Award from the Sydney Catalyst Translational Cancer Research Centre.

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Authors and Affiliations

  1. Cancer Epidemiology and Prevention Research, Sydney School of Public Health, The University of Sydney, Level 6 – North, The Lifehouse, 119-143 Missenden Rd, Camperdown, NSW, 2050, Australia

    Georgina L. Fenton, Amelia K. Smit, Lucinda Freeman, Caro Badcock & Anne E. Cust

  2. The Centre for Genetics Education, NSW Health, Sydney, Australia

    Kate Dunlop

  3. Centre for Medical Psychology and Evidence-based Decision-making, School of Psychology, The University of Sydney, Camperdown, Australia

    Phyllis N. Butow

  4. Crown Princess Mary Cancer Centre, Westmead Hospital, Sydney, Australia

    Judy Kirk

  5. Sydney Medical School, The University of Sydney, Camperdown, Australia

    Judy Kirk

  6. Centre for Cancer Research, The Westmead Institute for Medical Research, Sydney, Australia

    Judy Kirk

  7. Melanoma Institute Australia, The University of Sydney, Camperdown, Australia

    Anne E. Cust

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  1. Georgina L. Fenton
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  2. Amelia K. Smit
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  3. Lucinda Freeman
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  4. Caro Badcock
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  5. Kate Dunlop
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  6. Phyllis N. Butow
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  7. Judy Kirk
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  8. Anne E. Cust
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Correspondence to Anne E. Cust.

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Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible institutional review committees of the collaborating institutions, national guidelines, and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all individual participants included in the study.

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

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Fenton, G.L., Smit, A.K., Freeman, L. et al. Development and Evaluation of a Telephone Communication Protocol for the Delivery of Personalized Melanoma Genomic Risk to the General Population. J Genet Counsel 27, 370–380 (2018). https://doi.org/10.1007/s10897-017-0183-7

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  • DOI: https://doi.org/10.1007/s10897-017-0183-7

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