Abstract
Genome wide association studies have identified a number of common genetic variants - single nucleotide polymorphisms (SNPs) – that combine to increase breast cancer risk. SNP profiling may enhance the accuracy of risk assessment and provides a personalized risk estimate. SNP testing for breast cancer risks may supplement other genetic tests in the future, however, before it can be implemented in the clinic we need to know how it will be perceived and received. Semi-structured qualitative interviews were conducted with 39 women who had previously had a breast cancer diagnosis and undergone BRCA1/2 testing, participated in the Variants in Practice (ViP) study and received personalized risk (SNP) profiles. Interviews explored their understanding and experiences of receiving this SNP information. Women reported feeling positive about receiving their personalized risk profile, because it: provided an explanation for their previous diagnosis of cancer, vindicated previous risk management decisions and clarified their own and other family members’ risks. A small group was initially shocked to learn of the increased risk of a second primary breast cancer. This study suggests that the provision of personalized risk information about breast cancer generated by SNP profiling is understood and well received. However, a model of genetic counseling that incorporates monogenic and polygenic genetic information will need to be developed prior to clinical implementation.
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Acknowledgements
We thank all the women who participated in the ViP study, particularly those who took part in the psychosocial study.
This work was supported by the Australian National Health and Medical Research Council (2012-2014, APP1023698). A Cancer Council Victoria postgraduate scholarship supports Miss Sarah D Sawyer.
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Mary-Anne Young declares that she has no conflict of interest.
Laura Elenor Forrest declares that she has no conflict of interest.
Victoria-Mae Rasmussen declares that she has no conflict of interest.
Paul James declares that he has no conflict of interest.
Gillian Mitchell declares that she has no conflict of interest.
Sarah Dilys Sawyer declares that she has no conflict of interest.
Katrina Reeve declares that she has no conflict of interest.
Nina Hallowell declares that she has no conflict of interest.
Human Studies and Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.
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No animal studies were carried out by the authors for this article.
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Young, MA., Forrest, L.E., Rasmussen, VM. et al. Making Sense of SNPs: Women’s Understanding and Experiences of Receiving a Personalized Profile of Their Breast Cancer Risks. J Genet Counsel 27, 702–708 (2018). https://doi.org/10.1007/s10897-017-0162-z
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DOI: https://doi.org/10.1007/s10897-017-0162-z