Introduction
Simplified methods, such as telephone counseling or written information, are increasingly used instead of standard face-to-face pre-test genetic counseling [
1‐
5]. We have recently reported the results of the prospective BRCAsearch study, where unselected breast cancer patients were offered germline
BRCA1 and
BRCA2 mutation testing [
6]. Instead of pre-test genetic counseling, the patients received a standardized information letter. The study procedure offers an example of how genetic testing could be undertaken on a large scale, enabling BRCA testing to be expanded to a much larger number of patients than what has previously been possible.
Studies on patient satisfaction with genetic counseling have reported high levels of satisfaction, regardless if the counseling was conducted in-person, by telephone, or if the information was primarily provided through written material [
7‐
11]. To the best of our knowledge, no previous study has reported on patient satisfaction with written pre-test written information offered to unselected breast cancer patients. In this paper, we present the results of the 1-year follow-up patient-reported questionnaire from the BRCAsearch study. The questionnaire included questions regarding satisfaction with the study procedure and genetic testing.
The mode of delivery of genetic counseling and testing services could be associated with uptake rates of cancer risk management strategies among mutation carriers [
12]. Importantly, prophylactic surgeries in
BRCA1/
2 mutation carriers lead to a significant survival benefit [
13]. It is therefore crucial to rule out any negative impact on the uptake rates of prophylactic surgeries before new testing procedures are implemented in daily practices. In this paper, we also present the uptake rates of prophylactic surgeries among the mutation carriers identified within the BRCAsearch study.
Discussion
We offered a simplified and streamlined BRCA1/2 testing protocol to unselected breast cancer patients. Among the patients who opted for testing (67.0%), satisfaction with the testing procedure was very high. Also within the small group of patients who turned out to be mutation carriers (2.0%), there was a high degree of satisfaction with the testing procedure.
To the best of our knowledge, our study is the first to assess satisfaction in unselected breast cancer patients who have undergone germline
BRCA1/
2 testing without prior face-to-face genetic counseling. Similar to the results of our study, previous studies in cohorts enriched for mutation carriers and cohorts from clinical genetics departments have reported high levels of satisfaction with the standard procedure of in-person counseling, with telephone counseling, and with simplified methods based on written material [
8,
9,
11]. Metcalfe et al. found a high rate of satisfaction (92.8%) with the testing procedure among unselected Jewish women who underwent
BRCA1/
2 testing without pre-test genetic counseling [
7]. One could conclude that a great majority of all patients seem to be satisfied with any type of delivery of
pre-test information. Given that
a)
proper
post-test genetic counseling carried out by a genetics professional is important for the uptake rates of prophylactic surgeries [
12],
b)
mutation carriers who are aware of their mutation carrier status—in contrast to mutation carriers who are not aware of their mutation carrier status—can opt for prophylactic surgeries or surveillance programs, thereby decreasing their risk of cancer-related death [
16],
c)
currently used testing procedures based on selection criteria to merit testing fail to detect up to half of the mutation carriers [
17‐
20],
it seems prudent to recommend simplified methods for pre-test information and, instead, let the scarce resource of genetics professionals focus on the post-test genetic counseling for the small minority of cancer patients who will turn out to be mutation carriers. In our opinion, the results of our present study lend support to such an approach. Importantly, all
BRCA1/
2 mutation carriers identified within the study accepted the offer of in-person post-test genetic counseling, and with only 2 years of median follow-up, all of them had opted for prophylactic salpingo-oophorectomy.
A minority of breast cancer patients offered germline BRCA1/2 testing would likely benefit from pre-test counseling—telephone or in-person—as a complement to written information. In our study, 11.1% reported that they would have liked to receive more oral information. Using data extracted from the medical records, we were able to identify some characteristics associated with a higher likelihood of wanting more oral information: patients with somatic comorbidity and patients born outside of Sweden were more likely, and patients with a high level of education were less likely to wanting to receive more oral information. However, we do not believe that the results of these exploratory analyses should have any clinical impact. When a standardized written pre-test information is used, we consider it very important to offer all patients the possibility of complementary telephone or in-person counseling, and consider it mandatory to offer all mutation carriers post-test in-person genetic counseling.
For many breast cancer patients, simplified methods might even be preferable over standard pre-test counseling. In the “DNA-direct” study from the Netherlands, Sie et al. found that some patients, who were still undergoing breast cancer treatment, opted for simplified pre-test information because an extra hospital visit in a time period of chemotherapy or radiotherapy treatment was considered an extra burden, while reading information at home made genetic testing accessible [
5].
There are limitations to our study. First, we used a questionnaire that was developed for the study. The reason for this was that we did not find any validated questionnaire fulfilling our requirements for evaluation of the quite specific study procedure. The questions and answers (translated from Swedish to English) of our questionnaire are presented in Table
1, making it possible for the reader to assess the utility of the questionnaire. Second, there is the issue of representativity. A response rate of 83.1% is good for a mailed 1-year follow-up questionnaire. Still, one important aspect to consider is that all the patients who were mailed the questionnaire had opted for genetic testing. Such patients are obviously biased towards a positive attitude to genetic testing in general. It is not surprising that they report a high level of satisfaction. Due to ethical regulations, we were not able to survey patients who were offered, but did not pursue, genetic testing (266 of 805; 33%), and consequently, we cannot assess whether those patients were satisfied with—or even read—the written information that was provided.
In summary, satisfaction with a simplified testing procedure was very high among unselected breast cancer patients undergoing germline BRCA1/2 testing. Based on the results of the BRCAsearch study, in conjunction with the similar results of other studies, written pre-test information has replaced in-person pre-test counseling for recently diagnosed breast cancer patients in our health care region. As a consequence, germline BRCA1/2 testing can now be offered to a much larger number of breast cancer patients than what previously was possible.