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Personalized Medicine Through SNP Testing for Breast Cancer Risk: Clinical Implementation
Abstract
Single nucleotide polymorphisms (SNPs) have the potential to improve personalized medicine in breast cancer care. As new SNPs are discovered, further enhancing risk classification, SNP testing may serve to complement family history and phenotypic risk factors when assessed in a clinical setting. SNP analysis is particularly relevant to high-risk women who may seek out such information to guide their decision-making around risk-reduction. However, little is known about how high-risk women may respond to SNP testing with regard to clinical decision-making. We examined high-risk women's interest in SNP testing for breast cancer risk through an online survey of hypothetical testing scenarios. Women stated their preferences for sharing test results and selected the most likely follow-up action they would pursue in each of the test result scenarios (above average and below average risk for breast cancer). Four hundred seventy-eight women participated. Most women (89 %) did not know what a SNP was prior to the study. Once SNP testing was described, 75 % were interested in SNP testing. Participants stated an interest in lifestyle interventions for risk-reduction and wanted to discuss their testing results with their doctor or a genetic counselor. Women are interested in SNP testing and are prepared to make lifestyle changes based on testing results. Women's preference for discussing testing results with a healthcare provider aligns with the current trend towards SNP testing in a clinical setting.
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The willingness and interest to undergo precision medicine interventions and a positive attitude towards them is high among the majority of patients surveyed.
“The willingness and interest to undergo PM interventions and a positive attitude towards them is high among the majority of patients surveyed [29, 63, 65, 69, 73, 74, 77, 91–93].”
From Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis (2021) · cites this paper as [65]
Many patients generally have limited knowledge about precision medicine, genetic testing, and pharmacogenomics.
“However, as other studies have demonstrated, many patients generally have a limited knowledge about PM [65, 71, 99–102], genetic testing [62, 69, 95] and pharmacogenomics [73, 101] and also express difficulties in understanding [51].”
From Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis (2021) · cites this paper as [65]
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Erdmann, A., Rehmann-Sutter, C., & Bozzaro, C. (2021) · BMC Medical Ethics · doi:10.1186/s12910-021-00682-8 · Cited by 86
Metadata
- Authors
- Howe, R., Miron‐Shatz, T., Hanoch, Y., Omer, Z. B., O'Donoghue, C., & Ozanne, E. M.
- Affiliations
- Quinnipiac University (US)
- Ono Academic College (IL)
- University of Plymouth (GB)
- University of Massachusetts Chan Medical School (US)
- Department of Surgery University of Illinois at Chicago Chicago IL USA
- Dartmouth Institute for Health Policy and Clinical Practice (US)
- Corresponding author
- Ozanne, Elissa M.
- Venue
- Journal of Genetic Counseling
- Publisher
- Wiley
- Published
- 2014-12-18
- Volume
- 24
- Issue
- 5
- Pages
- 744-751
- ISSN
- 1059-7700 (ISSN-L)
- 1573-3599
- OpenAlex
- W2057029250
- Cited by
- 26
- References
- 0
- Citations by year
- 2025: 1 · 2024: 5 · 2023: 4 · 2022: 1 · 2021: 4 · 2020: 2 · 2019: 1 · 2018: 4 · 2017: 3
- FWCI
- 0.66
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Genetic Counseling (publishedVersion)
- PubMed (publishedVersion)
- Funders
- American Cancer Society
- National Cancer Institute (CA-97-004, N01-PC-55049-40, CA-97-019)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Health Professions › General Health Professions › Patient-Provider Communication in Healthcare
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- single nucleotide polymorphisms, breast cancer risk, genetic testing, personalized medicine, high-risk women, risk communication, lifestyle intervention, genetic counseling, clinical implementation, patient preferences
- MeSH terms
- Adult, Breast Neoplasms, Decision Making, Female, Genetic Testing, Humans, Middle Aged, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Precision Medicine
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