Making Sense of SNPs: Women's Understanding and Experiences of Receiving a Personalized Profile of Their Breast Cancer Risks

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.

Psychosocial and behavioral outcomes of genomic testing in cancer: a systematic review

“…No studies assessed the outcomes of WGS or WES. Of the studies that returned the SNP result, five returned polygenic risk score [11][12][13][14][15], with the remaining studies reporting individual SNP result [16][17][18]. Eleven articles assessed the outcomes of somatic testing [19][20][21][22][23][24][25][26][27][28][29].…”

High-risk women’s risk perception after receiving personalized polygenic breast cancer risk information

“…In addition to disclosing participants' polygenic risk, the inheritance of SNPs and risk to family members were also discussed during the feedback session. Participants' understanding of the inheritance of SNPs and risk to family members has been described in a companion paper (Young et al 2017).…”

“…Research examining hypothetical interest towards SNP testing consistently indicates that participants with and without personal and family histories of cancer possess positive attitudes towards being offered genomic testing for cancer risk (Graves et al 2011;Hall et al 2015;Henneman et al 2011;Leventhal et al 2013). More recently, cancer SNP testing has been offered to research participants to examine the psychosocial implications of genomic risk profiling and provide evidence for future translation of this testing from research to clinical settings (Bancroft et al 2015;Nusbaum et al 2013;Yanes et al 2017;Young et al 2017). Participants in a prostate cancer screening study who all had a family history of prostate cancer could accurately recall their personalized risk result, did not experience distress, and were reassured by their risk profile information (Bancroft et al 2014;Bancroft et al 2015).…”

Women’s preferences, willingness-to-pay, and predicted uptake for single-nucleotide polymorphism gene testing to guide personalized breast cancer screening strategies: a discrete choice experiment

“…Furthermore, little is known about women perspectives regarding SNP gene testing for breast cancer risk. 21 – 23 Increasingly, regulators such as the United States Food and Drug Administration as well as the European Medicines Agency have been working on incorporating risk–benefit perspectives of patients in regulatory assessments. 24 , 25 Likewise, in the health technology assessment process, the engagement of end-users broadens the perspective of recommendations given to decision makers 26 and provides a real-world understanding of the benefits and risks of health technologies and possible future uptake.…”