ArticleJournal of genetic counseling2018
Making Sense of SNPs: Women's Understanding and Experiences of Receiving a Personalized Profile of Their Breast Cancer Risks.
Article in Journal of genetic counseling, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 41 citations in OpenAlex.
- Polygenic risk scores in the clinic: a systematic review of stakeholders' perspectives, attitudes, and experiences.European journal of human genetics : EJHG · 2025Pooled it
- Psychosocial and behavioral outcomes of genomic testing in cancer: a systematic review.European journal of human genetics : EJHG · 2019Pooled it
- The psychosocial impact of receiving a polygenic risk score informing risk of prostate cancer.Hereditary cancer in clinical practice · 2026Article
- Awareness, knowledge, and attitudes toward polygenic risk scores for breast cancer in multiethnic high-risk cohorts of women.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Considering Clinical Implementation of Polygenic Scores in Hereditary Cancer Risk Assessment: Recipients' Perspectives on Influencing Factors and Strategies.The patient · 2025Article
- Standardization, Education, and Resourcing: The Way Forward for Implementing Polygenic Risk Scores in Hereditary Breast and Ovarian Cancer.Clinical and translational science · 2025Article
- How is Value Defined in Molecular Testing in Cancer? A Scoping Review.Applied health economics and health policy · 2025Article
- SNP's use as a potential chemotoxicity stratification tool in breast cancer: from bench to clinic.Functional & integrative genomics · 2025Review
- Article
- The role of polygenic risk scores in breast cancer risk perception and decision-making.Journal of community genetics · 2023Article
- A qualitative study exploring the consumer experience of receiving self-initiated polygenic risk scores from a third-party website.European journal of human genetics : EJHG · 2023Article
- Article
- Need for numbers: assessing cancer survivors' needs for personalized and generic statistical information.BMC medical informatics and decision making · 2022Article
- Perceptions of causal attribution and attitudes to genetic testing among people with schizophrenia and their first-degree relatives.European journal of human genetics : EJHG · 2022Article
- Perspectives of diverse Spanish- and English-speaking patients on the clinical use of polygenic risk scores.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant.Breast (Edinburgh, Scotland) · 2021Article
- Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors.Journal of medical genetics · 2021Article
- Women's responses and understanding of polygenic breast cancer risk information.Familial cancer · 2020Article
- Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field.Breast cancer research : BCR · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.