Cancer genetic risk assessment for individuals at risk of familial breast cancer

Hilgart, Jennifer; Coles, Bernadette; Iredale, Rachel

doi:10.1002/14651858.cd003721.pub3

Cited by 64 publications

(59 citation statements)

References 120 publications

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“…However, if respondents' reports of changes to anxiety are correct, then a large majority of respondents had no increase in health anxiety. These results are similar to findings from studies investigating the effects of BRCA testing for susceptibility to breast cancer and ApoE testing for susceptibility to Alzheimer's disease (Hilgart et al 2012;Roberts et al 2011). However, it is important to note that some respondents, albeit a small minority, reported an increase in health anxiety.…”

Section: Discussionsupporting

confidence: 85%

Effect of Direct‐to‐Consumer Genetic Tests on Health Behaviour and Anxiety: A Survey of Consumers and Potential Consumers

Egglestone

Morris

O’Brien

2013

Journal of Genetic Counseling

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Direct‐to‐consumer (DTC) genetic tests can be purchased over the internet. Some companies claim to provide relative genetic risks for various diseases and thus encourage healthy behaviour. There are concerns that exposure to such information may actually discourage healthy behaviour or increase health anxiety. An online survey was conducted (n = 275). Respondents were composed of individuals who had purchased a DTC genetic test and received their results (consumers, n = 189), as well as individuals who were either awaiting test results or considering purchasing a test (potential consumers, n = 86). Consumers were asked if their health behaviour or health anxiety had changed after receiving their results. Respondents’ current health behaviour and health anxiety were queried and compared. In total, 27.3 % of consumers claimed a change in health behaviour, all either positive or neutral, with no reported cessation of any existing health behaviour. A change in health anxiety was claimed by 24.6 % of consumers, 85.3 % of which were a reduction. Consumers had significantly better health behaviour scores than potential consumers (p = 0.02), with no significant difference in health anxiety. This study points towards an association between receipt of DTC genetic test results and increased adoption of healthy behaviours for a minority of consumers based on self‐report, with more mixed results in relation to health anxiety.

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Section: Discussionsupporting

confidence: 85%

Effect of Direct‐to‐Consumer Genetic Tests on Health Behaviour and Anxiety: A Survey of Consumers and Potential Consumers

Egglestone

Morris

O’Brien

2013

Journal of Genetic Counseling

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“…However, because the majority of women in the RGCT group were expected to receive counseling and testing, and because approximately 90% of them were expected not to carry a pathogenic BRCA1/2 mutation, lower levels of perceived risk at follow-up might be expected. 25 We observed a greater decline in perceived risk of having hereditary breast cancer in the RGCT group than the UC group. This suggests that RGCT may have induced a more realistic view of the chance of having hereditary breast cancer.…”

Section: Discussionmentioning

confidence: 53%

Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? results from a randomized clinical trial

Wevers

Ausems

Verhoef

et al. 2016

Genetics in Medicine

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Original research article IntroductIonFemale breast cancer patients who carry a BRCA1 or BRCA2 gene mutation have an increased risk of 20-55% for developing a second primary breast cancer 1 and are at increased risk for ovarian cancer. The risk of contralateral breast cancer is highest for carriers who were diagnosed with their first breast cancer at a young age. 1 Between 18 and 29% of carriers with a favorable prognosis opt for immediate or, more often, delayed contralateral prophylactic mastectomy (CPM) to reduce their risk of a second breast cancer. [2][3][4] Several studies have shown that a CPM leads to a large reduction (up to 95%) in the risk of contralateral breast cancer, with increasing evidence of improved breast cancer-specific survival. 5,6 Advances in the technology and logistics of genetic testing of the BRCA1 and BRCA2 genes have made it possible to offer high-risk breast cancer patients the opportunity to undergo rapid genetic counseling and testing (RGCT) during the time period between diagnosis and primary surgery. Women who Purpose: Female breast cancer patients carrying a BRCA1/2 mutation have an increased risk of second primary breast cancer. Rapid genetic counseling and testing (RGCT) before surgery may influence choice of primary surgical treatment. In this article, we report on the psychosocial impact of RGCT. Methods:Newly diagnosed breast cancer patients at risk for carrying a BRCA1/2 mutation were randomized to an intervention group (offer of RGCT) or a usual care control group (ratio 2:1). Psychosocial impact and quality of life were assessed with the Impact of Events Scale, Hospital Anxiety and Depression Scale, Cancer Worry Scale, and the EORTC QLQ-C30 and QLQ-BR23. Assessments took place at study entry and at 6-and 12-month follow-up visits.results: Between 2008 and 2010, 265 patients were recruited into the study. Completeness of follow-up data was more than 90%. Of the 178 women in the intervention group, 177 had genetic counseling, of whom 71 (40%) had rapid DNA testing and 59 (33%) received test results before surgery. Intention-to-treat and per-protocol analyses showed no statistically significant differences between groups over time in any of the psychosocial outcomes. conclusions:In this study, RGCT in newly diagnosed breast cancer patients did not have any measurable adverse psychosocial effects.

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“…The psychosocial impact of predictive genetic testing in women with a strong family history is well documented 13,14 and there is also an emerging body of literature on the impact of TFGT. 15,16 Generally these studies, conducted almost exclusively among women with a family history, found that while distress among carriers increased shortly after receiving results it returned to pretesting levels over time.…”

Section: Introductionmentioning

confidence: 99%

“…15,16 Generally these studies, conducted almost exclusively among women with a family history, found that while distress among carriers increased shortly after receiving results it returned to pretesting levels over time. [13][14][15][16] In women with no, or minimal, knowledge of a family history, a mutation-positive TFGT result is likely to be unexpected. These women may be particularly vulnerable to psychological distress following TFGT.…”

Section: Introductionmentioning

confidence: 99%

When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer

et al. 2016

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for the TFGT Collaborative Group 15Selection of women for treatment-focused genetic testing (TFGT) following a new diagnosis of breast cancer is changing. Increasingly a patient's age and tumour characteristics rather than only their family history are driving access to TFGT, but little is known about the impact of receiving carrier-positive results in individuals with no family history of cancer. This study assesses the role of knowledge of a family history of cancer on psychosocial adjustment to TFGT in both women with and without mutation carrier-positive results. In-depth semistructured interviews were conducted with 20 women who had undergone TFGT, and who had been purposively sampled to represent women both family history and carrier status, and subjected to a rigorous qualitative analysis. It was found that mutation carriers without a family history reported difficulties in making surgical decisions quickly, while in carriers with a family history, a decision regarding surgery, electing for bilateral mastectomy (BM), had often already been made before receipt of their result. Long-term adjustment to a mutation-positive result was hindered by a sense of isolation not only by those without a family history but also those with a family history who lacked an affected relative with whom they could identify. Women with a family history who had no mutation identified and who had not elected BM reported a lack of closure following TFGT. These findings indicate support deficits hindering adjustment to positive TFGT results for women with and without a family history, particularly in regard to immediate decision-making about risk-reducing surgery.

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Cancer genetic risk assessment for individuals at risk of familial breast cancer

Cited by 64 publications

References 120 publications

Effect of Direct‐to‐Consumer Genetic Tests on Health Behaviour and Anxiety: A Survey of Consumers and Potential Consumers

Effect of Direct‐to‐Consumer Genetic Tests on Health Behaviour and Anxiety: A Survey of Consumers and Potential Consumers

Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? results from a randomized clinical trial

When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer

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