Summary of evidence for attitudes towards/uptake of genetic testing in women with a family history of breast cancer and/or BRCA1/2 mutations

StudyDesign: originPopulationOutcome measuresResults
Bernhardt et al (1997)Qualitative study (focus groups): US229 women aged 21–60 at higher-risk (one 1st- and two 2nd-degree relatives with breast cancer in same line) and lower-risk (negative family history or ≥1 distant affected relatives).Semi-structured discussion guide. Topics included: assessment of risk/benefits of testing; interest in testing; expectations of how testing decisions should be made; preferences for learning about testing.Women would most want to learn about test accuracy, practicalities of testing, options if result was positive. Perceived benefits of testing: information leading to risk reduction, relief of uncertainty, more responsible parenting, assisting in research. Perceived risks: discomfort of testing, costs, anxiety after positive result. Insurance discrimination rarely mentioned. Women would want clinicians to make recommendations, rather than be non-directive.
Bowles Biesecker et al (2000)Follow-up: US172 adult (≥18 years) men/women from families with BRCA1/2 mutations and either: at least 2 cases of ovarian cancer in 1st-degree relatives; or 3 cases of breast cancer and at least 1 case of ovarian cancer; or at least 4 cases of breast cancerFactors affecting decisions to undergo genetic testing, in terms of sociodemographics, personality traits and family functioningAfter pre-test education and counselling, 135 (78%) chose to undergo genetic testing and 37 (22%) chose not to be tested. Those who chose testing were more likely to be older (≥40 years), to be less optimistic and to report higher levels of cohesiveness in their families.
Cappelli et al (2001)Cohort: Canada108 women: Group 1 (n=58) had at least 1 female relative with breast cancer diagnosed within past 2 years; Group 2 (n=50) from general population aged 18–50 years with no history of any cancer or family history of breast cancer.Breast Cancer Survey; Health Belief Model (HBM); perceived benefits/costs of genetic testing; intent to be tested.Women from Group 1 were more likely to want genetic testing than Group 2 women (P<0.05). Increased risk perceptions for ovarian cancer were associated with interest in genetic testing for BRCA1/2 in women with family history of the disease. Greater perceived psychological benefits and fewer perceived costs of BRCA1/2 testing were associated with genetic testing for women in both groups.
Durfy et al (1999)Survey: US4 groups of women with a family history of breast cancer of at least 1 relative (any degree) with breast cancer; 307 white women; 36 African American women; 87 lesbian/bisexual women; 113 Ashkenazi Jewish women.Cancer Worry Scale; perceived risk of breast cancer; beliefs about/interest in genetic testing; actions anticipated based on test results.Women in all groups favoured ready access to testing, believed the testing decision should be a personal choice and that test results should be confidential. Women anticipated using results to increase frequency of breast screening methods (in all groups, >69% would increase mammograms, >85% clinical examinations, >92% breast self- examination). In all, >80% probably or definitely would reject prophylactic surgery. Significant predictors of genetic testing included perceived risk, cancer worry and beliefs about access to testing.
Foster et al (2002)Survey: UK298 healthy individuals (227 females; 71 males) from families with identified BRCA1/2 mutation (97% response rate). Female median age: 41 (range 21–72 years); male median age: 48 (range 22–86 years). 85% were white.Mental health and cancer-related worry; risk perception; risk management; role of anxiety/risk perception in risk management; reasons for predictive genetic testingNo gender differences found in rates of psychiatric morbidity. Younger women (<50 years) more worried about developing cancer than older women. Few women provide accurate figures for population risk of breast (37%) or ovarian (6%) cancer but most perceived they are at higher risk of breast (88%) and ovarian (69%) cancer than average woman. Cancer- related worry not associated with perceived risk or uptake of risk management options (except breast self-examination). Younger women may be particularly vulnerable at time of offer of predictive genetic testing. Most common reason for wanting testing was for the sake of children.
Hailey et al (2000)Cohort study: US51 women (25 had 1st-degree relative with breast cancer and 26 had no family history [comparison group]). Mean age of sample was 41 (range 24–58 years).Breast Cancer Attitude Inventory (BCAI); Revised Beck Depression Inventory (BDI); perceptions of risk; anticipated impact of results; IES; assessment of benefits/risks of testing.Large proportion of women overall would want genetic testing (difference between groups not significant). Having a family history did not affect perceptions about positive/negative aspects of testing. Larger proportion of women with a family history expected negative consequences of testing than women without a history.
Hughes et al (1997)Survey (baseline interview prior to RCT): US310 Caucasian women and 97 African American women (mean age 43, range 18–75). 76% had ≥1 relative with breast cancer; 14% had ≥1 relative with ovarian cancer; 21% had ≥2 relatives with breast cancer; <1% had ≥2 relative with ovarian cancer.Knowledge about breast cancer genetics and genetic testing; attitudes about benefits, limitations and risks of testing.Average knowledge score was 6.0 out of total of 11 (SD=2.15). African American women had lower levels of knowledge and more positive attitudes about benefits of genetic testing, compared to Caucasian women. No significant ethnic differences in attitudes about risks of testing; however, income was negatively associated. Women generally had positive attitudes about genetic testing.
Jacobsen et al (1997)Survey: US74 women aged 32–59 years (mean age 44) with ≥1 1st-degree relative with breast cancerPerceived risk of breast cancer scale; Readiness Scale (to undergo genetic testing); Decisional Balance Scale for Breast Cancer Genetic Testing (perceptions of pros and cons of testing).46% planned to seek testing as soon as possible, 35% planned to seek testing in the future, and 19% did not plan to seek testing. Greater readiness for testing was associated with a positive decisional balance (P<0.0001). Older age and greater perceived risk also associated with greater readiness (P=0.05 and P=0.02, respectively).
Julian-Reynier et al (2000)Survey: French211 healthy women and 187 women with breast/ovarian cancer who had at least one 1st or 2nd-degree relative with breast/ovarian cancer: mean age 43.6 years (SD=12.2).Attitudes towards disclosing positive genetic test results to 1st-degree relatives; factors associated with patterns observedOf 383 women who had at least one 1st-degree relative to inform, 8.6% would inform none, 33.2% would inform at least one, and 58.2% would inform all of them. Sisters and brothers (86.9% and 79%, respectively) would be most frequently informed compared to mothers (71.4%), children (70.4%) and fathers (64.9%). Women would be informed more frequently than men (P<0.05). Age, whether affected by cancer, number of daughters and emotional upset due to cancer were main determinants of patterns observed (P<0.05).
Kinney et al (2001)Survey: US95 male and female members of a large African American family with a BRCA1 mutation (mean age 43; range 18–78 years). 77% were female.Health care attitudes and utilisation; psychological distress (CES-D and revised IES); knowledge/attitudes about breast cancer and BRCA1; BRCA1 testing intentions.Knowledge about breast/ovarian cancer was low. Adherence to screening recommendations also low in females with no personal breast/ovarian cancer history. Most participants (82%) would want a genetic test if available. Significant predictors of intent to undergo testing: having ≥1 1st- degree relative with breast and/or ovarian cancer (OR=5.1; 95% CI, 1.2–20.9); perceived risk of being mutation carrier of ≥50% (OR=64.3; 95% CI, 5.1–803.9); reporting that they did not know their risk of being mutation carrier (OR=10.9; 95% CI, 2.1–57.7). Barriers to testing included costs and availability.
Lerman et al (1994)Survey: US121 women, age range 18–74 years, with a 1st-degree family history of ovarian cancerAttitudes towards BRCA1 testing; psychological/emotional factors75% of women said they would definitely want to be tested for BRCA1 and 20% said they probably would. Perceived likelihood of being a gene carrier was associated with interest (OR=3.7; p=0.006). Anticipated negative impact of genetic testing was associated with younger age (P=0.009), mood disturbance (P=0.01) and an information-seeking coping style (P=0.002).
Lerman et al (1995)Survey: US105 healthy women with at least one 1st- degree relative with breast cancer: age range 30–75 yearsInterest in, and anticipated psychological impact of, genetic testing91% of women reported that they would want to be tested, 4% that they would not, and 5% were uncertain. Reasons for wanting genetic testing: learn about children’s risk, increase use of screening tests, and take better self-care. Most women expected a negative psychological impact of positive test results: increased anxiety (83%), depression (80%), impaired quality of life (46%). 72% said they would still worry if tested negative. Level of baseline depression strongest predictor of anticipated negative impact of genetic testing (P=0.0001).
Lerman et al (1996)Prospective observational study (with baseline interview of predictor variables): US279 adult males and females of families with BRCA1-linked hereditary breast/ovarian cancer. Mean age 43; white; 67% females.BRCA1 testing decisions; depression symptoms (CES-D Scale); functional health status (Medical Outcomes Study [MOS]); medical decision-making.43% of all participants requested BRCA1 test results. Requests for results more frequent in participants with health insurance (OR=3.74; 95% CI, 2.06–6.80); more 1st-degree relatives affected with breast cancer (OR=1.59; 95% CI, 1.16–2.16); more knowledge about BRCA1 testing (OR=1.85; 95% CI, 1.36–2.50); who indicated that test benefits are more important (OR=1.45; 95% CI, 1.13–1.86).
Lerman et al (1997)Survey: US149 participants (37% male) from families where BRCA1 mutations had recently been identified. Mean age was 44 (range 21–84 years); all participants were white.Breast cancer-specific distress (Impact of Event Scale [IES]); general distress (CES-D); intention to receive BRCA1 test results.58% of participants requested BRCA1 test results, and 42% declined to learn genetic status. After controlling for demographic factors and risk status, cancer-specific distress was significantly and positively related to BRCA1 test use (P<0.01), whereas general distress was unrelated.
Loader et al (1998)Survey: US99 women with ≥2 1st-degree relatives or one 1st- and one 2nd-degree relative with breast and/or ovarian cancer; 41 women with personal and family history of breast/ovarian cancer (mean age 44).Psychological status; breast cancer knowledge, attitudes, surveillance practices; decision about testing.Most common reasons for accepting testing were to take extra precautions if a mutation were found (42.9%); and to determine if children were at risk (24.5%). Most common reasons for declining were anxiety and absence of specific interventions. Factors predicting who chose testing were years of education (P<0.005) and family closeness (P<0.02).
Meijers-Heijboer et al (2000)Follow-up: Dutch682 healthy individuals with 50% risk (275 women/271 men) or 25% risk (136 women) of carrying BRCA1/2 mutationUptake of presymptomatic DNA testing and prophylactic surgery48% (198/411) of women and 22% (59/271) of men requested DNA testing (OR for difference between sexes = 3.21 [95% CI, 2.27–4.51; p<0.001]). DNA testing significantly more frequent at young age, if a parent, and at high risk of carrying mutation. In women found to have mutation who were eligible for prophylactic surgery, 51% (35/68) chose bilateral mastectomy and 64% (29/45) oophorectomy. Parenthood was predictor for mastectomy but not oophorectomy. Age significantly associated with oophorectomy but not mastectomy; tendency for mastectomy at younger ages.
Patenaude et al (1996)Survey: US36 members of 2 BRCA1 families and 57 members of Li-Fraumeni syndrome families invited for testing.Uptake/refusal of BRCA1 and p53 cancer predisposition testing programmes. General emotional status, depression, suicidal intentionality, self- esteem, coping, locus of control, social support.29/36 (80%) of members of BRCA1 families accepted testing; 22/57 (39%) of Li-Fraumeni family members accepted. Factors which may affect uptake: demands of the programmes, nature/immediacy of cancer risk, demographic factors, perceived outcomes of cancer, efficacy of screening, ego-strength and family experience of cancer. Findings similar in both groups.
Reichelt et al (1999)Survey: Norway232 individuals from 27 families with BRCA1 mutations who were offered testing.IES; Hospital Anxiety and Depression Scale (HADS); General Health Questionnaire (GHQ); Beck Hopelessness Scale.78% chose to be tested; 6% had not decided; and 16% declined testing. A higher proportion of females with a history of cancer had abnormal scores on the IES and GHQ questionnaires (P<0.001) compared to females without a history. Healthy females who were deciding on testing had the same or lower levels of mental distress compared to general population (4.3%–18.0% measured by different questionnaires). Males did not differ from healthy females on any measures.
Richards et al (1997)Survey: US309 Ashkenazi Jewish adults (272 females, 37 males). 67% had negative family history; 22% had one 1st-degree relative or two 2nd-degree relatives with breast/ovarian cancer; 7% had positive personal history; 4% had positive personal and family history.Reasons for uptake or refusal of genetic testing. Effectiveness of education programme.Group education was effective (improved scores from pre- to post- education tests). Of 289 (94%) who requested genetic testing, the major reasons included concern for their own risk and of their children, and desire to learn about surveillance options. Most common reason for declining testing was concern about health insurance.
Shiloh et al (1998)Survey: Israel150 women (54 high risk and 96 average risk, based on self-reported data). Mean age 37 (SD=10.88).Intentions to be tested; reasons for uptake/decline of testing; risk perceptions; differences in coping styles associated with intentions to be tested.Most women would consider being tested, different factors influence reasons for and against testing; motivations for testing differ between the 2 risk groups; ‘unrealistic optimism’ observed in average risk women only; intentions to be tested related to risk perceptions and individual differences in average risk women only.
Struewing et al (1995)Survey: US91 females and 49 males with family history of breast/ovarian cancerInterest in BRCA1 genetic testing and anticipated impact of test results79% indicated that they would definitely want to be tested, 16% would probably want to be tested. Those with a high risk perception of being BRCA1 mutation carrier were more likely to want testing (P=0.02). Females were significantly more likely to definitely want testing (p=0.005) and had a greater mean anticipated negative-impact score (2.3) compared to males (1.0) (P<0.001).

From: Appendix 7, Genetic testing, attitudes

Cover of Clinical Guidelines for the Classification and Care of Women at Risk of Familial Breast Cancer in Primary, Secondary and Tertiary Care
Clinical Guidelines for the Classification and Care of Women at Risk of Familial Breast Cancer in Primary, Secondary and Tertiary Care [Internet].
NICE Clinical Guidelines, No. 14.
School of Health and Related Research (ScHARR), University of Sheffield.
Sheffield (UK): University of Sheffield; 2004 May.
Copyright © 2004, School of Health and Related Research (ScHARR), University of Sheffield.

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