Psychological impact of receiving negative BRCA1 mutation test results in Ashkenazim

Lc, Friedman; Ja, Webb; Cs, Richards; Gr, Lynch; Al, Kaplan; Fc, Brunicardi; Plon, Sharon E.

doi:10.1097/00125817-199903000-00003

Cited by 15 publications

(10 citation statements)

References 27 publications

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“…For example, in one study, 23 mean scores of 9.0 for intrusion and 9.4 for avoidance were reported at 1 to 2 weeks after receiving a predictive test result, compared with means of 5.9 and 7.1 in this study. Although lower levels were found in the general Ashkenazi sample studied by Friedman et al, 10 it is possible that as all Ashkenazi women were eligible for testing, regardless of personal risk, levels of distress may have been lower than those in an affected group, such as in the present study. It is also possible that the current sample is interpreting their inconclusive result as a potentially negative result and are therefore not particularly distressed by it.…”

Section: Discussioncontrasting

confidence: 62%

“…This may be stressful; for example, a study of Ashkenazi women 9 found that affected women receiving an inconclusive result reported an increase in intrusive ideation. Friedman et al 10 studied the psychological impact of negative or uninformative 185delAG results in Ashkenazi women (with or without a family history of cancer and therefore at differing levels of risk). They found minimal psychological distress overall (although higher levels in the higher risk women), but cancer-specific distress decreased 1 month after the result had been received.…”

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confidence: 99%

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No news is (not necessarily) good news: Impact of preliminary results for BRCA1 mutation searches

Bish

Sutton

Jacobs

et al. 2002

Genetics in Medicine

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Purpose: Many women who have had breast or ovarian cancer who are undergoing tests for the presence of germline mutations in the BRCA1/2 genes will receive a result that is inconclusive. As this continuing uncertainty may have a detrimental effect on their psychological well-being and it is possible that such results will be misinterpreted as indicating that no mutation is present, studying their effect is important. Methods: Sixty-one women undergoing such tests completed questionnaires 2 weeks after their blood was taken and at 1 week and 6 months after receiving a preliminary "inconclusive" result, i.e., indicating that two thirds of the BRCA1 gene had been tested and no mutation had been found so far. Results: Perceived likelihood of having a mutation and perceptions of cancer risk significantly decreased after receipt of the interim result. There were no changes in levels of psychological distress and worry about cancer, in intentions to have mammograms, to carry out breast self-examination, or to have prophylactic surgery. Conclusions: The continuing uncertainty does not seem to have increased distress; however, it is possible that the inconclusive result is being interpreted as a "good news" result, in view of the fact that perceptions of risk decrease after receipt of the result. Genet Med 2002:4(5):353-358. Key Words: BRCA1 results, breast and ovarian cancer genetics, affected women, psychological distress, risk perceptionsThe population risk of developing breast cancer in the UK is 1 in 12, and the risk of ovarian cancer is 1 in 100. A small proportion (approximately 5%-10%) of women who develop breast and ovarian cancers have an inherited susceptibility to these cancers. 1,2 To date, two breast and ovarian cancer predisposing genes have been identified-BRCA1 3-5 and BRCA2. 6 It is possible to detect mutations in these genes in a small number of individuals who have a strong family history of breast or ovarian cancer. Before an unaffected individual can be tested to determine whether or not they have inherited a susceptibility to these cancers, it is first necessary to define the mutation in the family. This involves taking a blood sample from a member of the family who has had breast or ovarian cancer and where there is a high chance of a genetic mutation. The BRCA1 and BRCA2 genes are then analyzed for a mutation. Women undergoing such "mutation search" tests are the focus of the current study. If a mutation is found, a "predictive test" will then be available for close relatives who have not had these types of cancer. Women who have inherited a mutation in the BRCA1 or BRCA2 gene have approximately 80% risk of developing breast cancer over their lifetime, particularly at a young age, and 40%-60% lifetime risk of ovarian cancer. 5 The psychological effect on the first individuals in a family to be tested has tended to be relatively underrepresented in the literature, with research mainly focusing on the effects of predictive testing (which would only occur once a mutation has been found). Affected wo...

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Section: Discussioncontrasting

confidence: 62%

mentioning

confidence: 99%

No news is (not necessarily) good news: Impact of preliminary results for BRCA1 mutation searches

Bish

Sutton

Jacobs

et al. 2002

Genetics in Medicine

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“…Eleven groups of studies dealt with psychosocial aspects of genetic testing for breast and ovarian cancer among Jewish women: two from Israel [53,62], seven from the US [64,[67][68][69][70][71][72][73][74][75] and two from Australia [76][77][78] (Table 1). No studies were found on these topics for Jewish women in Europe.…”

Section: Breast Cancer Edp Among Jewish Womenmentioning

confidence: 99%

Screening of high-risk groups for breast and ovarian cancer in Europe: a focus on the Jewish population

et al. 2010

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Low breast cancer screening rates are often found among ethnic minority groups and those born outside the host country. This is of particular concern for high-risk groups, who should benefit from ongoing trials aimed at optimizing screening strategies for breast, as well as ovarian cancer. Both of these issues are germane for Jewish women in Europe. We systematically review the literature concerning breast cancer early detection practices (BCEDP) among Jewish women, and examine European surveillance studies of high-risk for breast and/or ovarian cancer that had imaging in the surveillance protocol, in order to assess the likelihood of adequately including women from minority ethnic groups. No studies were found about BCEDP among Jewish women in Europe. Twenty-one research groups from Israel or the US addressed BCEDP among Jewish women. Some Jewish women in the US and Israel, including recent immigrants, are under-screened. Twenty-four research groups reported imaging surveillance of women at increased risk for breast and/or ovarian cancer in Europe. There was a clear benefit to magnetic resonance imaging and/or more intensive screening for women with increased breast cancer risk. Some of these surveillance studies considered ethnic minority groups at high risk, including Jewish women, but none provided adequate outreach to ensure that these groups were included in their programs. The specific screening needs of Jewish and other high-risk ethnic minority groups in Europe have not been met regarding breast and ovarian cancer. A European-wide, population-based approach is suggested, with cultural sensitivity being vital for these efforts.

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“…A public health strategy based on genetic screening could be ineffective for HH, and perhaps for other conditions for which genetic tests become available, if a sizable proportion of people are averse to genetic testing. Past studies have assessed the acceptability of genetic screening for HH, 30,31 but these studies are applicable only to the countries in which they were conducted and have not assessed participants' behavior to see if it matched their stated intentions.…”

Section: Introductionmentioning

confidence: 99%

Patient acceptability of genotypic testing for hemochromatosis in primary care

Anderson

Press

Tucker

et al. 2005

Genetics in Medicine

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Purpose: Genetic screening can enable timely detection and treatment of hereditary hemochromatosis (HH). Little is known about patient acceptability of DNA testing as compared to conventional phenotypic testing. Methods:Within the HEIRS Study, a large primary-care screening study of HH and iron overload, we randomly assigned participants to receive brief information on either HH genotypic or phenotypic testing, and assessed the willingness to accept this test. The study was designed to recruit an equal number of African Americans and Caucasians.Results: A total of 2500 participants were recruited from waiting rooms of primary care practices; 2165 participants who self-identified as African Americans and Caucasians were included in the analyses. Overall, 56% had accepted a genotypic test versus 58% for a phenotypic test. Adjusting for Field Center (FC), age, gender, race, educational attainment, global health rating, and knowledge of the test, the odds ratio of accepting a genotypic versus phenotypic test was 0.85 (95% CI: 0.71, 1.02; P ϭ 0.078). Characteristics associated with test acceptance were age 45-64 years, female gender, Caucasian race, self-rated health less than ''very good'', and knowledge of the test. Test acceptance was associated with interest in knowing more about health (81%) and in helping family members (71%). Refusal reasons included a need to talk with a doctor (44%), concern about privacy (32%), and dislike of blood drawing (29%). Conclusion: In this diverse sample of primary care patients, stated acceptance of genotypic testing for HH mutations was similar to phenotypic testing for blood iron. Patient education regarding the nature of test, importance of disease detection, and privacy protection appear to be essential for achieving high rates of screening participation. Genet Med 2005:7(8):557-563.

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Psychological impact of receiving negative BRCA1 mutation test results in Ashkenazim

Abstract: Receipt of negative DNA test results does not have a deleterious psychological impact, whether results are informative or uninformative.

Cited by 15 publications

References 27 publications

No news is (not necessarily) good news: Impact of preliminary results for BRCA1 mutation searches

No news is (not necessarily) good news: Impact of preliminary results for BRCA1 mutation searches

Screening of high-risk groups for breast and ovarian cancer in Europe: a focus on the Jewish population

Patient acceptability of genotypic testing for hemochromatosis in primary care

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