Increasing use of genetic testing for breast cancer susceptibility and increasing awareness of hereditary cancer risk have placed great demands on genetic counseling services.51
As more women seek information about breast cancer risk, there may be too few genetic counselors to meet their informational needs. Health care professionals (particularly those in primary care) who would ordinarily refer to genetic counselors are likely to seek alternative or adjunct methods for educating some of their patients. Interactive computer programs are such an alternative, but questions have been raised as to whether these programs can effectively educate about breast cancer risk and help women make informed decisions about genetic testing. This study sought to measure the effectiveness of a computer-based intervention, comparing its use with genetic counseling. In doing so, we also sought to determine if it can be used alone and when it should be used in conjunction with genetic counseling.
In general, the computer program was well-received by participants, who considered it to be a good use of their time and adaptable to their own learning pace. We demonstrated that the program was particularly effective at improving knowledge about hereditary breast cancer and genetic testing among women at low risk of carrying a BRCA1
mutation, and that this process of self-directed learning did not increase users’ anxiety. In fact, the program was more effective at increasing knowledge than was genetic counseling among low-risk women, the group who may have the least familiarity with the topic and, thus, the greatest informational needs. One possible explanation for this finding is that the computer program maximizes comprehension by presenting and repeating difficult concepts in engaging ways, using multiple formats and simple examples. It allows users to obtain information at their own pace and to review material as needed, thus promoting reflection and assimilation of complex concepts18,52–54
while averting the “information overload” that sometimes occurs during face-to-face counseling.55
Although less likely, it is also possible that the knowledge test was biased in favor of our program. However, the instrument we used was adapted from measures validated in previous studies, and all test items addressed standard topics that counselors and other genetics professionals believe necessary for informed decision making.50
An even more remote possible explanation of our finding is that our computer program was more “knowledgeable” than the counselors. Several things make this highly unlikely: all counselors had specialized training in cancer genetics, all were well-versed in the factual material, all were rated highly by the clients, and the content for the computer program was itself modeled after accepted standard content for a genetic counseling session. Further research could help clarify these issues.
The computer program was also effective in reducing low-risk women’s perceived risk of getting breast cancer and their intention to undergo genetic testing (although these outcomes were affected more after counseling). As in other studies,56–58
most women in our study initially estimated their breast cancer risks to be quite high, a misperception that can lead to increased concerns about one’s cancer risk as well as inappropriate or unnecessary genetic testing.
Although we have demonstrated the effectiveness of the computer program as an educational method, it is important to note that one-on-one genetic counseling was superior in affecting risk perception and anxiety. This is not surprising since the computer program does not provide individualized risk assessments or psychological counseling. Although a computer could be designed to give risk estimates, presenting that information without the guidance of a trained health care professional can give rise to misunderstandings and confusion due to the complexity and limitations of risk models. The program also does not address emotional issues as thoroughly as or with any of the accompanying psychological support of individualized counseling, both of which may be needed by those considering genetic testing.34,35,59,60
Counseling also increased knowledge, but not as much as the computer for low-risk individuals. However, for this group, counseling was perceived to be better than the computer at providing reassurance. Yet, high-risk women rated the counselors as better at providing them with sufficient information to make a decision. This may be because many women at high risk access information about breast cancer risk before their visit and may have sought counseling specifically to obtain personal risk assessments and guidance about testing from a genetics professional.
What is the appropriate niche for the computer program? For the majority of women who are at low risk of carrying BRCA1
mutations, the computer program is likely to be an effective way to improve knowledge and address most questions about hereditary cancer risk and genetic testing. The program may be particularly useful in primary care settings, where many women may have questions about their inherited cancer risk and the need for genetic testing but don’t have immediate access to genetic counseling services. Given the growing demand for education and testing in primary care61
and the limited knowledge of genetics by primary care practitioners,10,11,62
the use of our computer program by low-risk women can help reduce unnecessary referrals to genetic counselors and reserve one-on-one counseling for those who most need it, namely, high-risk women.
For women at high risk or those in need of additional psychosocial support, the computer is best used as a supplement to rather than a replacement for genetic counseling. When used in advance of counseling sessions, it can increase women’s basic knowledge of breast cancer, heredity, and genetic testing and thereby help prepare them for their meetings with counselors. With a higher knowledge base, women are more likely to comprehend the personalized risk assessments that take place in counseling sessions and to focus on the implications of pursuing genetic testing.
An additional noteworthy finding in both groups was that women’s actual uptake of genetic testing was lower than one might expect from their previously stated intentions. Greater than 80% of participants in both risk groups indicated at baseline that they were likely to undergo genetic testing. After receiving genetic counseling (with or without the computer program), the percentage of high-risk women who indicated that they were likely to undergo genetic testing did not change; however, the percentage of low-risk women who intended to have testing declined significantly, to approximately 40%. At 6 months after the intervention, 62% of high-risk women and 19% of low-risk women had undergone testing. These findings are consistent with other studies that have demonstrated that genetic testing intentions frequently differ from actual behaviors,63
especially among persons who are at lower risk of carrying a mutation. The findings also illustrate the dissuading influence that education and counseling may have on testing decisions among low-risk women, for whom genetic testing is less likely to be helpful.
The generalizability of our findings to other populations may be limited for several reasons. First, the computer program focuses only on genetic testing for breast cancer susceptibility. Other inherited cancer predisposition syndromes may have different test limitations, psychological effects, and implications for medical management. Thus, separate programs would need to be developed and evaluated for other conditions. Second, the study was conducted in 6 specialty settings offering cancer risk assessment by counselors experienced in cancer genetics. Most medical environments lack such specialty services; hence, the present findings may significantly underestimate our program’s ability to outperform various health care professionals in increasing women’s knowledge about breast cancer risks. Third, 77 individuals did not keep their counseling appointments after initially agreeing to participate in the study; these women may differ from participants who completed the study. Although it was not feasible to collect detailed information about nonparticipants, we can speculate that those who did not keep their appointments may have been less motivated or more ambivalent about obtaining information about their risks and less open to considering genetic testing. If these individuals had been in our study, we may have seen lower mean knowledge scores, perceived risk of developing breast cancer, and intention to undergo testing. Still, since randomization did not occur until after participants arrived at their study visits, any differences would likely have affected both groups equally and, hence, had no significant impact on our results.
Perhaps the most important limitation to the generalizability of our findings is that this study included only women who could read, write, and speak English, and most were white, well-educated, medically literate, and comfortable using computers. Thus, our study population is not representative of the US population at large or of women at risk of breast cancer. Nonetheless, the women included in this study do represent a typical cross section of women who seek genetic counseling for breast cancer susceptibility. Clearly, further study is needed to determine the usefulness of our computer program in more diverse populations, including minorities, those with lower educational levels, and those in primary care settings.
In conclusion, these findings support the use of an interactive computer program to educate women about breast cancer risk and genetic testing. For those at high risk of hereditary breast cancer, our computer program can effectively supplement standard genetic counseling by providing factual information before genetic counseling sessions. For women at low risk, the computer program has the potential to stand alone as an educational method when accompanied by appropriate follow-up with a qualified health care professional.