Quantitative study part
Sample characteristics
The mean age of respondents was 48 years (range 21–77) and the sample consisted of mostly female participants (84.8%), living in a relationship (75.9%), with at least one other person in the household (86.1%), and at least one child (72.2%). Most respondents reported having at least one sibling (83.5%). Regarding educational status, the majority of respondents had a higher education level (62.0%). More than half of the mutation carriers had a history of cancer (58.2%). Of these, breast cancer was the most common, followed by ovarian cancer (Table 1). Table 1 presents further sociodemographic characteristics of the study sample.
Table 1
Sociodemographic and clinical characteristics of the sample
Sociodemographic and clinical characteristics
|
n (%)
|
Cumulated %
|
Gender
|
|
|
Female
|
67 (84.8)
|
84.8
|
Male
|
12 (15.2)
|
100
|
Marital status
|
|
|
Married
|
48 (60.8)
|
60.8
|
Committed partnership, unmarried
|
12 (15.2)
|
75.9
|
Single
|
10 (12.7)
|
88.6
|
Divorced or separated
|
7 (8.9)
|
97.5
|
Widowed
|
2 (2.5)
|
100.0
|
Living situation
|
|
|
With other persons
|
68 (86.1)
|
86.1
|
Alone
|
11 (13.9)
|
100.0
|
Children
|
|
|
No children
|
22 (27.8)
|
27.8
|
1 child
|
23 (29.1)
|
57.0
|
2 children
|
26 (32.9)
|
89.9
|
> 2 children
|
8 (10.2)
|
100.0
|
Of these minors (< 18 years)
|
36 (63.2)
|
|
Siblings
|
|
|
No siblings
|
13 (16.5)
|
16.5
|
1 sibling
|
35 (44.3)
|
60.8
|
2 siblings
|
22 (27.8)
|
88.6
|
> 2 siblings
|
9 (11.4)
|
100.0
|
At least 1 sister
|
45 (57.0)
|
|
At least 1 brother
|
36 (45.6)
|
|
Graduation (school)
|
|
|
Lower school-leaving qualification
|
29 (36.7)
|
37.2
|
Higher educational level
|
49 (62.0)
|
100.0
|
Missing
|
1 (1.3)
|
|
Professional career
|
|
|
Apprenticeship, Bachelors Degree
|
44 (55.7)
|
55.7
|
University, technical college
|
29 (36.7)
|
92.4
|
Other
|
6 (7.6)
|
100.0
|
Work situation
|
|
|
Employed
|
49 (62.0)
|
62.0
|
Not employed
|
18 (22.8)
|
84.8
|
Other
|
12 (15.2)
|
100.0
|
History of cancer
|
|
|
Yes
|
46 (58.2)
|
58.2
|
No
|
33 (41.8)
|
100.0
|
Tumor entities
|
|
|
Breast cancer only
|
27 (58.7)
|
58.7
|
Ovarian cancer only
|
11 (23.9)
|
82.6
|
Breast and ovarian cancer
|
4 (8.7)
|
91.3
|
Breast and additional cancer
|
2 (4.4)
|
95.7
|
Other cancer entity
|
2 (4.4)
|
100.0
|
Table 1
In 86.1% of participants, there was a family history of cancer, with an average of 2.79 (SD = 1.64) tumor cases per family. The most frequently affected relatives were mothers (55.7%), aunts (38.0%), grandmothers (35.4%) and fathers (24.1%). There was a prevalence of breast cancer in 70.9%, of ovarian cancer in 29.1%, of prostate cancer in 16.5% and of colorectal cancer in 12.7% of families (Table 2).
Table 2
Descriptive statistics of family history of cancer
Characteristics
|
n (%)
|
Family history of cancer
|
|
Yes
|
68 (86.1)
|
No
|
11 (13.9)
|
Family members with cancer
|
|
Mother
|
44 (55.7)
|
Father
|
19 (24.1)
|
Sister
|
10 (12.7)
|
Brother
|
6 (7.6)
|
Aunt
|
30 (38.0)
|
Uncle
|
12 (15.2)
|
Cousin (female)
|
13 (16.5)
|
Cousin (male)
|
0 (0.0)
|
Grandmother
|
28 (35.4)
|
Grandfather
|
7 (8.9)
|
Tumor entities *
|
|
Breast Cancer
|
56 (70.9)
|
Ovarian Cancer
|
23 (29.1)
|
Colorectal Cancer
|
10 (12.7)
|
Prostate Cancer
|
13 (16.5)
|
Note. * refers to the general presence of a specific tumor entity within a family. It is possible that several family members were affected by this type of cancer. |
Table 2
Psychological well-being of mutation carriers
Table 3 shows psychological variables of BRCA1 or BRCA2 mutation carriers concerning distress, depression, anxiety and health-related quality of life. Measured by NCCN Distress Thermometer (cut-off ≥ 5), 64.6% of participants had general distress (n = 51, M = 5.37, SD = 2.3, Table 3). No difference in psychological distress was found between participants without and with a history of cancer (69.7% vs. 60.9%, p = 0.423, Table 3). The point prevalence of depression (PHQ-9, cut off ≥ 10) was 16.9% (n = 13, Table 3). Only a minority of participants had moderate or severe depressive symptoms (14.3% or 2.6%, respectively) (Table 3). History of cancer was not associated with severity of depression (p = 0.473, data not shown). Measured by GAD-7, mild or moderate anxiety symptoms were present in 47.4% (n = 37) and severe anxiety symptoms in 2.6% (n = 2) of participants (Table 3) with no difference regarding history of cancer (p = 0.696, data not shown).
Table 3
Variables of psychological well-being
Variables
|
n (%)
|
M (SD)
|
NCCN *
|
|
|
No
|
28 (35.4)
|
|
Yes
|
51 (64.6)
|
|
Distress, population without cancer
|
23 (69.7)
|
|
Distress, population with a history of cancer
|
28 (60.9)
|
|
PHQ-9 **
|
|
|
No
Yes
|
64 (83.1)
|
|
13 (16.9)
|
|
0–4
|
minimal
|
33 (42.9)
|
|
5–9
|
mild
|
31 (40.3)
|
|
10–14
|
moderate
|
11 (14.3)
|
|
15–19
|
moderately severe
|
0 (0)
|
|
20–27
|
severe
|
2 (2.6)
|
|
GAD-7
|
|
0–4
|
minimal
|
39 (50.0)
|
|
5–9
|
mild
|
30 (38.4)
|
|
10–14
|
moderate
|
7 (9.0)
|
|
15–21
|
severe
|
2 (2.6)
|
|
SF-12 ***
|
|
|
|
Physical domain
|
|
46.96 (10.11)
|
Mental domain
|
|
47.66 (10.09)
|
Note. * Cut-Off ≥ 5 Distress, ** Cut-Off ≥ 10 Major Depression; *** In comparison, the norm means of 41- to 50-year-olds in the general population (1994) were M = 50.15 (SD = 7.93) for the physical domain and M = 52.24 (SD = 7.79) for the mental domain.
|
There was a deviation of about one standard deviation in the health-related quality of life (SF-12) in the physical and mental domain compared with the norm mean values of 41- to 50-year-olds in the general population which means slight restrictions in the daily functional level of participants (35) (Table 3).
Table 3
Genetic testing
Measured by an eight validated item scale main reasons for undergoing genetic testing were desire for safety, prevention and risk assessment for the own children (Table 4). Satisfaction with the decision (SWD) to undergo genetic testing was high (Table 4).
Table 4
Analyzed factors of genetic testing
Genetic testing
|
M (SD)
|
n (%)
|
Reasons to attend genetic counseling *
|
|
|
To obtain certainty
|
4.49 (0.94)
|
|
To be able to take preventive actions
|
4.40 (1.02)
|
|
To estimate the risk for my children
|
3.77 (1.56)
|
|
To help science
|
3.18 (1.40)
|
|
Requested by a family member
|
2.19 (1.42)
|
|
General planning for the future
|
2.73 (1.48)
|
|
Family planning
|
1.68 (1.27)
|
|
Other
|
1.52 (1.39)
|
|
Satisfaction with decision to undergo genetic testing *
|
|
|
Sum score **
|
27.27 (4.19)
|
|
I am satisfied that I am informed about the issues important to my decision.
|
4.60 (0.74)
|
|
The decison I made was the best decision possible for me personally.
|
4.56 (0.68)
|
|
I am satisfied that my decision was consistent with my personal values.
|
4.61 (0.74)
|
|
I expect to successfully carry out the decision I made.
|
4.53 (0.88)
|
|
I am satisfied that this was my decision to make.
|
4.52 (0.95)
|
|
I am satisfied with my decision.
|
4.56 (0.86)
|
|
Impact of Event Scale (IES) ***
|
|
|
≥ 25
|
Inconspicuous
|
|
47 (59.5)
|
26–43
|
Moderate impact
|
|
24 (30.4)
|
> 43
|
Severe impact
|
|
8 (10.1)
|
Subjective perception of own knowledge *
|
|
|
Informed about the significance of genetic testing
|
4.51 (0.72)
|
|
Informed about advantages and disadvantages
|
4.25 (0.78)
|
|
Informed about the test procedure
|
4.24 (0.96)
|
|
Informed about the risks of genetic testing
|
3.86 (1.21)
|
|
Informed about the test results
|
4.47 (0.62)
|
|
Informed about the consequences for relatives
|
4.22 (0.97)
|
|
Objective knowledge (Breast Cancer Genetic Knowledge Counseling Score, BGKQ)
|
|
Median
(Min-Max)
|
Correct answers ****
|
16.47 (5.08)
|
18 (1–26)
|
Note. * These items could be answered from 1 “absolutely not agree” to 5 “totally agree”; ** Sum Score of SWD Scale: Maximum of 30 is equivalent to full satisfaction with undergoing genetic testing; *** Impact of Event Scale measures the subjective distress related to a specific event such as genetic testing; **** A total of 27 items had to be answered.
|
The subjective distress related to genetic testing (IES) showed an inconspicuous result in 59.5% (n = 47), a moderate impact in 30.4% (n = 24) and a severe impact in 10.1% (n = 8) of participants (Table 4). Psychosocial support because of genetic testing and related concerns was used by 41.8% (n = 33) of respondents, in particular psychosocial counseling services (20.5%, n = 16), psychotherapy (16.5%, n = 13) as well as internet forums with other affected individuals (16.5%, n = 13). Especially psychotherapy and psychosocial counseling services were perceived as helpful. Overall, BRCA1 or BRCA2 mutation carriers felt well to very well informed about the purpose of genetic testing, the test result and the impact for their family (Table 4). Further information needs were expressed through individual comments and related mainly to the following topics: ovarian cancer, prophylactic and preventive measures, life after prophylactic surgery and concrete instructions for follow-up. The objectively measured knowledge (BGKQ) about the gene alteration was moderate. On average, M = 16.47 (SD = 5.08) of 27 items (Median = 18, Minimum = 1, Maximum = 26) were answered correctly (Table 4). The results of items regarding genetic testing are presented in Table 4.
Table 4
Communication about mutation detection within families
All respondents informed at least one family member about the detection of a mutation and 72.2% (n = 57) encouraged at least one relative to undergo predictive genetic testing. A recommendation to genetic testing was finally followed in 45.6% (n = 26) of the families. The familial communication process and following genetic uptake are summarized in Fig. 2. Most frequently, the sister (88.9%, n = 40) was informed about the gene alteration (Table 5). The brother was informed by 75.0% (n = 27) of participants. Overall, in each comparable group, communication about the mutation detection was more frequent with female than with male relatives. Furthermore, 64.9% (n = 37) of respondents informed their children about the gene alteration (Table 5).
Table 5
Communication partners within families
Communication partners
|
n (%)
|
Total n
|
Child
|
37 (64.9 *)
|
57
|
Mother
|
37 (46.8)
|
79
|
Father
|
28 (35.1)
|
79
|
Sister
|
40 (88.9 *)
|
45
|
Brother
|
27 (75.0 *)
|
36
|
Aunt
|
20 (32.2 *)
|
59
|
Uncle
|
9 (17.6 *)
|
51
|
Cousin (female)
|
23 (29.1)
|
79
|
Cousin (male)
|
3 (3.8)
|
79
|
Note. * Percentage in relation to total frequency |
Table 5
The majority (57.0%, n = 45) informed their relatives immediately after receiving the test result or one or two days later (36.7%, n = 29). Further discussions also took place after seven to ten days (24.1%, n = 19) or after weeks or months (25.3%, n = 20).
Qualitative study part
The in-depth focus group interviews with six relatives and four partners were evaluated. Participating family members had become aware of genetic testing either through a history of cancer of a (female) family member or through their own cancer disease. In general, all families communicated about the detection of a pathogenic variant and in most cases the possibility of predictive testing was mentioned. Finally, family members responded differently to familial predisposition to cancer: Fact-oriented reactions concerning the familial BRCA1 or BRCA2 mutation were observed in individuals with an own history of cancer. They described a process of adaptation which was the result of continuous confrontation with oncological diseases within a family. Contact to health care professionals, intensified follow-up, screening programs and prophylactic surgery for mutation carriers have made it possible to develop feelings of security, control and self-efficacy. Anxious-avoidant reactions were described by relatives who experienced particularly severe cancer cases in their family or who were unprepared to learn about the familial genetic disposition, both resulting in an information processing under fear. Strong feelings, e.g. feeling helpless, distressed or overwhelmed had been intensified by the lack of detailed information, leading to the avoidance of genetic counseling. Emotionally-distant reactions were observed in relatives who were informed about the genetic predisposition during cancer diagnosis and treatment of a family member. In this acute stress situation, family members considered their own predictive testing a lower priority. Together with an uncertainty who to contact for further information, they paid less attention to the own risk and the possibility of having predictive testing.
From the relatives’ perspective the main arguments for undergoing predictive genetic testing were gaining certainty, access further information and screening programs in case of a pathogenic test result. The main reasons against undergoing predictive genetic testing were young age (< 25 years), fear of the burden associated with a pathogenic test result, family conflicts as well as uncertainty concerning the clinical relevance of testing and the own risk, especially among male relatives. Relatives who had already been tested emphasized that the genetic testing itself had been less challenging, whereas the previous process of decision-making had been emotionally stressful, especially because of uncertainties due to a deficiency of valid information. It was highlighted that family members only got filtered and subjective information about predictive testing through an oncological affected person.