Green MJ, Peterson SK, Baker MW, Harper GR, Friedman LC, Rubinstein WS, Mauger DT. Effect of a Computer-Based Decision Aid on Knowledge, Perceptions, and Intentions About Genetic Testing for Breast Cancer SusceptibilityA Randomized Controlled Trial. JAMA. 2004;292(4):442-452. doi:10.1001/jama.292.4.442
Author Affiliations: Penn State College of Medicine (Drs Green and Mauger) and Penn State Cancer Institute, the Milton S. Hershey Medical Center (Dr Baker), Hershey, Pa; The University of Texas M. D. Anderson Cancer Center, Houston (Dr Peterson); Penn State Cancer Institute, Lehigh Valley Hospital, Allentown, Pa (Dr Harper); Baylor College of Medicine, Houston, Tex (Dr Friedman); and Evanston Northwestern Healthcare, Evanston, Ill (Dr Rubinstein).
Context As the availability of and demand for genetic testing for hereditary
cancers increases in primary care and other clinical settings, alternative
or adjunct educational methods to traditional genetic counseling will be needed.
Objective To compare the effectiveness of a computer-based decision aid with standard
genetic counseling for educating women about BRCA1 and BRCA2 genetic testing.
Design Randomized controlled trial conducted from May 2000 to September 2002.
Setting and Participants Outpatient clinics offering cancer genetic counseling at 6 US medical
centers enrolled 211 women with personal or family histories of breast cancer.
Interventions Standard one-on-one genetic counseling (n = 105) or education by a computer
program followed by genetic counseling (n = 106).
Main Outcome Measures Participants' knowledge, risk perception, intention to undergo genetic
testing, decisional conflict, satisfaction with decision, anxiety, and satisfaction
with the intervention. Counselor group measures were administered at baseline
and after counseling. Computer group measures were administered at baseline,
after computer use, and after counseling. Testing decisions were assessed
at 1 and 6 months. Outcomes were analyzed by high vs low risk of carrying
a BRCA1 or BRCA2 mutation.
Results Both groups had comparable demographics, prior computer experience,
medical literacy, and baseline knowledge of breast cancer and genetic testing,
and both counseling and computer use were rated highly. Knowledge scores increased
in both groups (P<.001) regardless of risk status,
and change in knowledge was greater in the computer group compared with the
counselor group (P = .03) among women at low risk
of carrying a mutation. Perception of absolute risk of breast cancer decreased
significantly after either intervention among all participants. Intention
to undergo testing decreased significantly after either intervention among
low-risk but not high-risk women. The counselor group had lower mean scores
on a decisional conflict scale (P = .04) and, in
low-risk women, higher mean scores on a satisfaction-with-decision scale (P = .001). Mean state anxiety scores were reduced by counseling
but were within normal ranges for both groups at baseline and after either
intervention, regardless of risk status.
Conclusions An interactive computer program was more effective than standard genetic
counseling for increasing knowledge of breast cancer and genetic testing among
women at low risk of carrying a BRCA1 or BRCA2 mutation. However, genetic counseling was more effective than
the computer at reducing women's anxiety and facilitating more accurate risk
perceptions. These results suggest that this computer program has the potential
to stand alone as an educational intervention for low-risk women but should
be used as a supplement to genetic counseling for those at high risk.
In recent years, genetic testing for inherited cancer predisposition
has become widely available.1- 3 Initially,
the use of such testing was limited to those enrolled in research studies
at specialized medical centers. However, developments in testing technology
and widespread publicity in the news media have led to increased testing for
conditions such as breast cancer susceptibility4,5 in
primary care6- 8 and
other settings, raising questions about how to adequately inform patients
about their personal breast cancer risk and the pros and cons of genetic testing.9- 11 Professional organizations
advise that people who want to learn about their options and alternatives
regarding genetic testing should be referred to specialists such as genetic
counselors.12- 14 However,
there are only about 400 genetic counselors in the United States who identify
themselves as specializing in cancer genetics,15 and
cancer genetic counselors are not available in some regions of the United
States, especially outside of major urban areas. Consequently, the demand
for education and counseling about inherited cancer risk is likely to outstrip
the supply of cancer genetics specialists,16,17 and
there is a pressing need to find effective ways to deliver factual information
about breast cancer risk and genetic testing in light of the limited access
to these services.
A variety of educational materials help address this informational need,18 including brochures and booklets,19,20 Web
sites,21,22 and videotapes,23 but few have been rigorously evaluated for their
effectiveness in educating their target audience, and none can replicate a
detailed discussion between a counselor and client. In response to this information
gap, a group led by the first author (M.J.G.) developed an interactive, multimedia,
computer-based decision aid ("Breast Cancer Risk and Genetic Testing") to
educate individuals and help facilitate informed decision making about genetic
testing for breast cancer susceptibility.24 This
computer program has undergone extensive peer review,25- 28 and
it was evaluated in a small randomized trial, in which it was found to be
acceptable to cancer genetic counselors and their clients29 and
effective at increasing clients' knowledge about breast cancer risk and genetic
As a follow-up to the initial reviews and evaluation, we revised and
updated the program and conducted a larger multicenter randomized trial among
women with family or personal histories of breast cancer. In this study, we
directly compared our interactive computer program with standard one-on-one
counseling, assessing the impact of each on women's knowledge, perception
of risk, decisions about genetic testing, postintervention decisional conflict,
and satisfaction with the educational method. We also determined whether these
outcomes differed between women at high vs low risk of carrying a BRCA1 or BRCA2 mutation and whether these
2 risk groups derived different benefits from the computer-based intervention.
Participants were recruited between May 2000 and September 2002 at 6
study sites (Penn State College of Medicine, Hershey, Pa; Lehigh Valley Hospital
and Health Network, Allentown, Pa; University of Pittsburgh Medical Center,
Pittsburgh, Pa; The University of Texas M. D. Anderson Cancer Center, Houston;
Baylor College of Medicine, Houston; and Evanston Northwestern Healthcare,
Evanston, Ill). The research protocol received institutional review board
(IRB) approval at each of the participating sites and was monitored by each
local IRB. Women were eligible to participate if they were 18 years or older;
able to read, write, and speak English; referred for genetic counseling for
evaluation of personal or family history of breast cancer; and able to give
informed consent. Women who previously had undergone genetic counseling or
testing for inherited breast cancer susceptibility were excluded. Potential
participants were identified by counselors or other staff when clients scheduled
counseling appointments. All women meeting eligibility criteria were invited
to participate by mail, telephone, or in-person contact and were informed
that using the computer program and/or meeting with a counselor could take
up to 3 hours. Anyone who was unable or unwilling to allot this amount of
time was excluded. All eligible women who agreed to participate provided written
informed consent. Participants received a small gift in recognition of their
To ensure balance in each arm of the study, we used separate computer-generated
randomization lists for low-risk and high-risk individuals at each study site.
Low risk was defined as less than 10% chance of carrying a deleterious BRCA1 or BRCA2 mutation, and high
risk was defined as 10% or higher chance, as calculated by using the BRCAPRO
model.31 Participants were assigned to the
intervention groups using the appropriate randomization list for their risk
category. Those enrolled in the counselor group received standard genetic
counseling, including education and risk assessment. Those in the computer
group used the interactive computer-based educational program about breast
cancer risk and genetic testing and then received standard genetic counseling.
All participants first completed a baseline questionnaire on or just
before the day of their counseling appointments. Participants who were randomized
to the counselor group proceeded directly to their genetic counseling appointments
after completing the baseline questionnaire and, after counseling, completed
an additional questionnaire. Participants assigned to the computer group were
introduced to the computer program after completing their baseline questionnaire.
Individuals who were unfamiliar with interactive computer programs were directed
to the optional instructions and guidance at the beginning of the program.
Aside from this introduction, staff did not assist participants as they used
the program. Women proceeded through the program at their own pace. Immediately
after using the program and before their counseling appointments, computer
group participants completed a subset of postintervention measures identical
to those completed by the counselor group. They then proceeded to their counseling
appointments and completed additional measures after counseling. At 1 and
6 months after the study visit, we contacted participants by telephone and
collected information about their genetic testing decisions.
Breast Cancer Genetics Computer Program. The
computer program, "Breast Cancer Risk and Genetic Testing", has been described
in detail elsewhere.24,32 It is
an interactive, multimedia CD-ROM–based decision aid designed to educate
women about breast cancer, heredity, and the benefits and limitations of genetic
testing. The program's main purpose is to help women make informed decisions
about genetic testing for breast cancer susceptibility by addressing topics
such as who is at risk of breast cancer, how genes affect cancer risk, and
the pros and cons of testing. The program is easy to use, requires no prior
experience with computers, and has been designed for women of various ages
and educational levels. Since it is self-paced and user-driven, each user
determines the order and sequence of accessing various sections, as well as
the amount of time spent in each section. In this study, participants used
the program for an average of 45 to 60 minutes.
Genetic Counseling. Genetic counseling was
provided by 12 genetic counselors and 1 advanced practice nurse with specialty
training in cancer genetics. All were experienced in counseling clients about
cancer susceptibility and either had received instruction in cancer genetics
as part of their formal training or had obtained additional continuing education
through short courses, conferences, and other educational opportunities. Since
cancer genetic counseling is individualized to meet the needs of persons with
varying degrees of inherited cancer risk, it was not feasible to develop a
common script for counselors. To ensure that counseling sessions contained
similar content across counselors and study sites, the investigators and participating
counselors identified a standard set of topics to be covered that was consistent
with current practice guidelines33 and also
with the information presented in the computer program.24 At
some centers, physicians were available to clients at the end of the counseling
session to reinforce medical management recommendations provided during the
session and to answer questions.
Two features of the counseling sessions differed from the computer program.
First, counselors (but not the computer program) provided individualized risk
estimates for the likelihood of carrying a genetic mutation and of developing
breast cancer. Second, the counseling included a psychosocial component to
address emotional concerns if they were raised during discussions of breast
cancer risk and genetic testing.34,35
Demographics. At baseline, participants were
asked to provide demographic information (age, race/ethnicity, educational
level, religion/religiosity) and to rate their degree of experience with computers
and awareness of genetic testing.
Medical Literacy. Medical literacy was measured
at baseline using the Rapid Estimate of Adult Literacy in Medicine (REALM),
a reliable and valid measure of reading ability with regard to medical terminology.36 REALM consists of 66 medical words that a participant
reads aloud to an interviewer. Each correctly pronounced word receives 1 point,
for a maximum score of 66.
Knowledge. Knowledge about breast cancer, heredity,
and genetic testing was measured at baseline and after the educational intervention.
The knowledge measure was a 20-item multiple choice and true/false questionnaire
modified from a core instrument used by the Cancer Genetics Studies Consortium
of the National Human Genome Research Institute and National Cancer Institute.37 Similar versions have been used successfully in prior
Perceived Risk. Perceived risk was assessed
at baseline and after each intervention using 3 items. Perceived relative
or comparative risk of developing breast cancer was assessed with a single
item from the Cancer Genetics Studies Consortium core instruments: "In your
opinion, compared to other women your age, what are your chances of developing
breast cancer in the future?" Responses ranged from 1 (much lower) to 5 (much
higher). Perceived absolute risk of developing breast cancer was assessed
using the question, "What do you think your chances of getting breast cancer
are on a scale of 0 to 100, where 0 is no chance of getting breast cancer
and 100 means that you will definitely get it?" Perceived risk of having a
genetic susceptibility to breast cancer was assessed with a single item modeled
after questions developed by Weinstein40: "In
your opinion, how likely is it that you have an inherited gene mutation for
breast cancer susceptibility?" Responses ranged from 1 (not at all likely)
to 4 (definitely).
Objective Mutation Carrier Risk. Counselors
used the BRCAPRO model41 to calculate each
participant's estimated risk of carrying a BRCA1 or BRCA2 germline mutation. This model uses information from
a woman's family history of breast and ovarian cancer to determine her risk42 and is a widely accepted method for determining the
probability of carrying mutations in BRCA1 and BRCA2 genes.31,43
Intention to Undergo Genetic Testing. Intention
to undergo genetic testing was assessed at baseline, after each intervention,
and after 1 and 6 months with a single item: "At the present time, which of
the following statements describes your thoughts about having genetic testing
for susceptibility to breast cancer?" Responses ranged from 1 to 6 and included,
respectively, "(1) I haven't thought about it; (2) I definitely will not get
tested; (3) I probably will not get tested; (4) I probably will get tested;
(5) I definitely will get tested; and (6) I was already tested (used at study
visit to confirm that women already tested were excluded from the study)."
For analysis, responses 2 through 5 were collapsed into 2 categories ("likely"
and "unlikely" to be tested).
Decisional Conflict and Satisfaction With Decision. Decisional conflict was measured after the intervention in both groups
using a validated 6-item scale with a 5-point Likert response format44 to assess the level of conflict women felt about
their decisions regarding genetic testing. This scale measures perceptions
of personal uncertainty in making a choice about health care options, the
modifiable factors contributing to uncertainty, and the quality of the decision
made. Items are summed and averaged to obtain scores ranging from 1 (low decisional
conflict) to 5 (high decisional conflict). Satisfaction with decision regarding
genetic testing was assessed after the intervention using the 6-item Satisfaction
With Decision Scale.45 Scores on this validated
instrument range from 6 (low satisfaction) to 30 (high satisfaction).
Anxiety. State anxiety was measured at baseline
and after computer use and genetic counseling using the State Anxiety subscale
of the Spielberger State-Trait Anxiety Inventory,46,47 a
validated and widely used measure. The subscale includes 20 items and yields
scores ranging from 20 (low anxiety) to 80 (high anxiety).
Evaluation of Computer Intervention and Genetic Counseling. Participants' assessments of the strengths and weaknesses of both
the computer intervention and genetic counseling were measured after the educational
component with a 9-item scale developed for this study. Using a 4-point Likert
response format (excellent, good, fair, and poor), participants assessed attributes
such as how well each method presented factual information, dealt with emotional
concerns, and tailored the intervention to the specific needs of the learners.
Descriptive statistics were computed for all variables. Results of the
20-item knowledge measure were summarized as the percentage of correct responses.
The decisional conflict, satisfaction with decision, and state anxiety instruments
were summarized according to recommended algorithms.44- 47 Knowledge
was chosen as the primary outcome measure because informed decision making
cannot take place without sufficient understanding of key factual information.48- 50 Group differences
in continuous outcomes were assessed by t test (cross-sectional
outcomes) and repeated-measures analysis of variance (longitudinal outcomes).
Group differences in categorical and ordinal outcomes were assessed by χ2 test or Fisher exact test (cross-sectional outcomes) and by ordinal
or binary logistic regression using the generalized estimating equations approach
(longitudinal outcomes). Four- and 5-point Likert scale responses were analyzed
as ordinal outcomes. These responses were collapsed into a smaller number
of categories when 1 or more levels had fewer than 5 responses. All P values reported were associated with 2-tailed tests of
significance, and all analyses were carried out using SAS statistical software,
version 8.1 (SAS Institute, Cary, NC). The study sample size (210 targeted
enrollment) was chosen to provide 90% power (at the .05 significance level)
to detect a 10% difference between groups with respect to knowledge scores.
A total of 432 eligible women were invited to participate in the study
and 288 (67%) agreed (Figure 1).
Of these, 77 canceled or failed to keep their counseling appointments, and
we enrolled 211 women into the study, distributing them equally between the
counselor and computer groups. There were no statistically significant differences
across the 6 study sites with respect to any outcomes reported herein.
Baseline data are summarized in Table
1. The 2 groups were similar with respect to age, race/ethnicity,
education, religion, religiosity, experience with computers, and personal
history of breast cancer. High-risk and low-risk participants were evenly
distributed across groups. Overall, 74% of the 211 participants were younger
than 50 years, 56% had completed college or beyond, and 93% were white. A
high proportion reported using a computer "often" or "sometimes" at home (63%)
or at work (77%). The mean score on the REALM assessment of medical literacy
was very high (65 on a scale of 1-66). Based on BRCAPRO estimates, 55% of
participants had less than a 10% chance of carrying a BRCA1/2 mutation (low risk) and 45% of participants
had a 10% chance or higher (high risk). Furthermore, 30% of participants had
a personal history of breast cancer (excluding lobular carcinoma in situ or
ductal carcinoma in situ). Those at high and low risk were similar with respect
to most demographic characteristics, but high-risk individuals were younger
(42 vs 47 years; P = .003) and more familiar with
genetic testing (50% vs 36% reported reading or hearing "a fair amount" or
"a lot" about genetic testing; P = .04).
Both genetic counseling and the interactive computer program were highly
successful at increasing knowledge scores, and mean postintervention scores
were significantly higher than baseline scores in both groups (P<.001), regardless of risk status (Table 2 and Table 3).
Women in the computer group correctly answered significantly more knowledge
questions than those in the counselor group for 12 of the 20 items (Table 4). Among low-risk women, the mean
increase in knowledge scores was significantly higher in the computer group
compared with the counselor group (38 vs 29; P =
.03). However the increase was not significantly different between groups
among high-risk women (34 vs 29; P = .22). Changes
in knowledge scores were not affected by self-reported computer literacy but
they were affected by educational level. Specifically, women with higher educational
levels had smaller changes in their knowledge scores because they started
out with higher baseline scores and therefore had less room for improvement.
However, since the effect of education was identical in both groups, the overall
group comparison was not confounded.
Participants' overall perception of their relative risk of developing
breast cancer was high at baseline (>82% believed they had a higher risk of
developing breast cancer than other women their age) and was significantly
lowered after education only among low-risk women in the counselor group (Table 2). Participants' perception of their
absolute risk of developing breast cancer decreased significantly after either
counseling or computer use among both high-risk and low-risk women. The reduction
in risk perception was greatest among low-risk women in the counselor group
(Table 2), whose mean self-estimated
probability of getting breast cancer (on a scale of 0-100) dropped from 58
to 42 (P<.001). Participants' perceived likelihood
of carrying a gene mutation in BRCA1 or BRCA2 also differed by risk status (Table 2 and Table 3).
Among high-risk women, the percentage who indicated that they "very likely"
or "definitely" had a mutation was high at baseline and did not change significantly
after counseling or computer use. Among low-risk women, whose baseline risk
perceptions were lower than those of high-risk women (P<.001), the percentage who indicated a higher likelihood of carrying
a mutation decreased dramatically after counseling (from 46% to 7%; P<.001), and slightly (though not significantly) after
computer use (from 41% to 34%; P = .16). However,
after low-risk women in the computer group underwent counseling, the percentage
who indicated that they likely had a mutation declined significantly (to 11%; P<.001).
At baseline, participants' intention to undergo testing was high in
both groups, with more than 80% indicating that they "probably" or "definitely"
will get tested. After counseling or the computer intervention, the percentage
of women indicating that they intended to get tested declined significantly
among low-risk but not high-risk women (Table 2 and Table 3).
Among low-risk women in the counselor group, 80% indicated at baseline that
they would get tested; after counseling, this declined to 36% (P<.001). The decline among low-risk women in the computer group
was also significant (but less dramatic) after computer use, from 82% to 67%
(P = .05). After these participants underwent counseling,
their testing intention declined even further (to 42%; P<.001).
One and 6 months after participants' study visits, we collected data
about actual testing decisions. After 1 month, 21% of contacted participants
(36/172) had undergone genetic testing (4% of low-risk and 39% of high-risk
women). After 6 months, a cumulative total of 39% (61/156) had been tested
(19% of low-risk and 62% of high-risk women). Testing decisions did not differ
significantly between computer group and counselor group participants (Table 5).
Overall mean scores on the decisional conflict measure were low in both
groups and were somewhat lower in the counselor group compared with the computer
group (1.9 and 2.1, respectively, on a scale of 1-5; P =
.04). However, when analyzed by high and low risk status, there was no significant
difference in decisional conflict between the counselor and computer groups.
Additionally, overall mean scores on the satisfaction-with-decision measure
were high for both groups, with mean scores of at least 23 (on a scale of
6-30). Among low-risk women, those in the counselor group had slightly higher
mean satisfaction scores compared with those in the computer group (26 vs
24; P = .001), but there was no difference in satisfaction
among high-risk women.
On the whole, mean state anxiety scores were within normal ranges for
the general population both at baseline and after either intervention. Scores
for the counselor group decreased significantly after counseling among high-risk
(P = .001) and low-risk (P =
.007) participants. For computer group participants, anxiety did not change
significantly after computer use but did decline after subsequent counseling
among both high-risk and low-risk women (Table 2 and Table 3).
Participants rated both interventions highly. More than 83% rated counseling
and computer use as "excellent" or "good" on all 9 measured attributes, and
more than 95% in both groups indicated that the amount of information provided
was "about right." The overall mean evaluation score (on a scale of 1-4) was
3.7 in the counselor group and 3.5 in the computer group (P<.001). The percentage of "excellent" or "good" responses for each
attribute is shown for low- and high-risk women in Table 6. There were no significant differences between groups on
6 of the 9 attributes. However, among high-risk women, more counselor group
than computer group participants gave an excellent or good rating to the attribute
"providing enough information for you to make a decision about genetic testing"
(P = .01). Among low-risk women, more counselor group
than computer group participants gave an excellent or good rating to "providing
reassurance" (P = .02), but more computer group than
counselor group participants gave excellent or good responses to "making good
use of your time" (P = .03).
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 BRCA1/2 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 BRCA1/2 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.