Breast Cancer Risk Perceptions among Relatives of Women with Uninformative Negative <Emphasis Type="Italic">BRCA1/2</Emphasis> Test Results: The Moderating Effect of the Amount of Shared Information

The most common result of BRCA1/2 mutation testing when performed in a family without a previously identified mutation is an uninformative negative test result. Women in these families may have an increased risk for breast cancer because of mutations in non-BRCA breast cancer predisposition genes, including moderate- or low-risk genes, or shared environmental factors. Genetic counselors often encourage counselees to share information with family members, however it is unclear how much information counselees share and the impact that shared information may have on accuracy of risk perception in family members. We evaluated 85 sisters and daughters of women who received uninformative negative BRCA1/2 results. We measured accuracy of risk perception using a latent variable model where accuracy was represented as the correlation between perceived risk (indicators = verbal and quantitative measures) and calculated risk (indicators = Claus and BRCAPRO). Participants who reported more information was shared with them by their sister or mother about her genetic counseling session had greater accuracy of risk perception (0.707, p?=?0.000) than those who reported little information was shared (0.326, p?=?0.003). However, counselees shared very little information; nearly 20 % of family members reported their sister or mother shared nothing with them about her genetic counseling. Family members were generally not aware of the existence of a genetic counseling summary letter. Our findings underscore the need for effective strategies that facilitate counselees to share information about their genetic counseling sessions. Such communication may help their relatives better understand their cancer risks and enhance risk appropriate cancer prevention.     

Women's Understanding of Their Risk of Developing Breast/Ovarian Cancer Before and After Genetic Counseling

Many studies have reported that individuals frequently over- or underestimate their risk of developing cancer both before and after they attend genetic counseling for breast and/or ovarian cancer. Using a combination of interviews and written questionnaires, we investigated counselees' understanding of their risk of developing cancer before and after genetic counseling. We demonstrate that although 76% of the sample thought that their risk was elevated relative to women in general, only a small proportion (17%) were willing or able to provide a numerical estimate of their risk of developing cancer before they attended the clinic. Following the consultation, 43% indicated that their risk of developing cancer was lower than they had anticipated. Twenty-two percent described their risk in absolute rather than relative terms, i.e., that they would definitely (not) develop cancer in the future. The implications of these findings for further research are discussed.     

Perceived Risk Following Melanoma Genetic Testing: A 2-Year Prospective Study Distinguishing Subjective Estimates from Recall

A major goal of predictive genetic testing is to alert people to their risk before illness onset; however, little is known about how risk perceptions change following genetic testing and whether information is recalled accurately over time. In the United States, a CDKN2A/p16 mutation confers 76 % lifetime risk of melanoma. Following genetic counseling and test reporting, subjective risk estimates and recall of counselor-provided risk estimates were assessed 5 times over the next 2 years among 60 adult members of 2 extended CDKN2A/p16 kindreds. No sustained changes from baseline in risk perceptions were reported. Unaffected carriers (n?=?15) consistently reported significantly lower subjective risk estimates (46 %) than they were actually given (76 %, p?<?0.001) or recalled having been given (60 %, p?<?0.001). Noncarriers’ (n?=?27) risk estimates decreased following results disclosure, but rebounded, with both subjective and recalled estimates subsequently exceeding what they were told by the counselor (both ps?<?0.001). Affected carriers’ (n?=?18) risk estimates for developing a new melanoma corresponded well to counselor-provided information (p?=?0.362). For all 3 patient groups, results were consistent across multiple risk measures and remained similar when demographic, phenotypic, and baseline behavioral contributors to melanoma risk were statistically controlled. These findings are consistent with other studies of risk perception, but additional studies of more diverse populations are needed to understand the reasons behind both the persistence of initial risk estimates and their divergence from information provided by the counselor during genetic counseling. Additionally, determining whether holding subjective risk perceptions that differ from counselor-provided information ultimately affects adherence to management recommendations will help guide the presentation of risk information in genetic counseling practice.     

Health Beliefs and Behaviors of Women Who Have Received Genetic Counseling For Breast Cancer

There are both genetic and behavioral risk factors for breast cancer, but the interaction between these factors is not clear. Little is known about the impact of receiving genetic risk information for breast cancer on behaviors such as diet and physical activity. Seven focus groups were conducted with 23 women who had recently received genetic counseling for breast cancer, in order to explore health beliefs and behaviors following genetic counseling. Findings revealed that there was much confusion and uncertainty about the associations between health behaviors and breast cancer risk, and participants reported that receiving genetic counseling had little impact on health protective behaviors. Further research is required to understand variation in response to genetic risk information, and to assess the impact of providing additional information regarding lifestyle factors.     

Perception of risk in genetic counseling

Abstract

Genetic counseling is a psychological process of communicating and perceiving information about risks. As such, it is important to assess how information is understood by counselees and how psychological factors affect risk perception. Subjects were 76 patients at a genetic clinic whose understanding of genetic counseling was assessed, along with their motivation and way of thinking about risks. Results indicated that subjective interpretations of recurrence risks are better predictors of their reproductive intentions than the “objective” risks. Also, specific cognitive and motivational factors appear to explain much of the variance in risk perception in genetic counseling. The results have important implications for how counseling is conducted, as well as for theoretical issues about cognitive processes.     

Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors

These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Cancer Genetic Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Key components include the intake (medical and family histories), psychosocial assessment (assessment of risk perception), cancer risk assessment (determination and communication of risk), molecular testing for hereditary cancer syndromes (regulations, informed consent, and counseling process), and follow-up considerations. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.     

To Use or Not to Use: The Prenatal Genetic Technology/Worry Conundrum

We conducted an exploratory, qualitative study investigating the factors influencing the use of genetic counseling and prenatal genetic testing for two groups: pregnant women 35 years of age and over (AMA) at the time of delivery and pregnant women with an abnormal maternal serum triple screen (MSAFP3). The convenience sample consisted of 25 semistructured interviews of women/couples and 50 observations of genetic counseling sessions. Worry turned out to be the most important variable influencing decision making about prenatal genetic testing and was greater in the MSAFP3 group than in the AMA group. The women in the AMA group appeared to assign the risk of having a child with Down syndrome to their age category rather than to themselves individually, whereas, the risk perception for women with an abnormal MSAFP3 appeared to have shifted from a general population risk for pregnant women to an individual, personal risk. There was a general lack of understanding and also more misinformation about the MSAFP3 screen compared to amniocentesis. Women in both groups were torn between fear of an invasive test and worry about the health of their fetus for the rest of their pregnancy if they did not undergo amniocentesis.     

Effects of counseling Ashkenazi Jewish women about breast cancer risk

The goal of this study was to determine whether genetic counseling or psychosocial group counseling provided to Ashkenazi women can reduce breast cancer worry, cancer risk perception, and interest in having genetic testing. Women (N=211) were randomized to receive individual genetic risk counseling, to receive a group psychosocial group counseling, or to serve as a control group. The authors found that both counseling methods reduced cancer worry, lowered perceptions of breast cancer risk, and decreased interest in having genetic testing. Counseling can help women gain a more accurate perception of their risk, expose them to the benefits and limitations of genetic testing, and reduce their worry about cancer.     

Genetic Counseling Outcomes: Perceived Risk and Distress After Counseling for Hereditary Colorectal Cancer

Genetic counseling may turn risk information into cancer prevention behavior by modifying health beliefs and cancer-related distress. We assessed the effect of genetic counseling on these factors in 101 adult first-degree-relatives of colorectal cancer patients from families with known or suspected hereditary nonpolyposis colorectal cancer. Before counseling and once afterward, subjects completed self-report measures of perceived lifetime risk and cancer-distress. Most persons overestimated their cancer risk, and higher perceived risk was associated with believing that colorectal cancer cannot be prevented. Individual perceived risk changed after counseling, although mean perceived risk was unchanged. After adjusting for baseline risk, older persons and those with higher estimated objective cancer risk had larger postcounseling decreases. Distress after counseling was positively correlated with baseline distress and anxiety symptoms, and inversely correlated with tolerance for ambiguity. The findings suggest counseling interventions that should increase the likelihood of screening and offer hypotheses for future research.     

Risk Perception Among Women at Risk for Hereditary Breast and Ovarian Cancer

This paper is a summation of selected history and literature on risk perception as it pertains to genetic counseling and testing, with a focus on hereditary breast and ovarian cancer, the area which has seen the greatest focus of research. Risk perception is a complex and incompletely understood concept which seeks to capture the myriad meanings that an individual attaches to the experience of being at increased risk. It is now evident that “risk”, as perceived by the patient, is different from the objective, quantifiable risk estimate often provided to them during genetic counseling. What is also clear is that the complicated set of factors influencing risk perception are not yet well understood, nor are the mechanisms the lead from perceived risk to behavioral change in the patient. In situations where specific behavioral changes such as increased cancer screening are an inherent goal of the genetic risk assessment and counseling process, gaining a better understanding of the specific factors motivating change will be essential.     

Perception of genetic risk among genetic counselors

A mailed survey of female prenatal genetic counselors, obstetric nurses, and high school biology teachers was conducted to determine if these groups hold different attitudes toward genetic risk and to investigate the extent to which any differences result from the effect of different professional experiences. In this study, the participants were 166 genetic counselors, 116 obstetric nurses, and 78 biology teachers (n = 360). Survey participants completed a written questionnaire designed to assess their numeric estimate of the empiric risk for birth defects/genetic problems, their subjective perception of this risk, and their personal use of prenatal diagnosis. Genetic counselors were found to be less likely than the other groups to consider the frequency of birth defects/genetic problems as rare and were 10 times more likely than nurses and 8 times more likely than teachers to have had prenatal diagnosis. Furthermore, more than half of the prenatal diagnosis procedures had by genetic counselors were not medically indicated. These results suggest that genetic counselors have an increased perception of genetic risks relative to nurses or teachers. Possible explanations for this finding are discussed, and the potential role of discordant risk perception in creating biases in the genetic counseling process is explored.     

A Survey of Genetic Counselors' Use of Informed Consent Documents for Prenatal Genetic Counseling Sessions

Thirty six members of the Prenatal Diagnosis Special Interest Group of the National Society of Genetic Counselors were interviewed about their use of informed consent documents for the genetic counseling component of their prenatal genetic counseling sessions and their perceptions of the utility and feasibility of such documents. Major findings include (1) None of the genetic counselors currently used a consent document describing the genetic counseling component of the session itself; (2) Only three participants stated that they had ever used an informed consent document for this component of the session; (3) They disagreed about the importance and usefulness of such a document; (4) There was variability in their reported likelihood of using a document if one were available; (5) There was a fair amount of agreement about the types of information to include on an informed consent document for genetic counseling; over half of the sample endorsed 8 of 10 topics; and (6) Participants identified 10 obstacles to using such a document. Recommendations for genetic counseling practice, policy, and research are given.     

The independence of size perception and distance perception

Research on distance perception has focused on environmental sources of information, which have been well documented; in contrast, size perception research has focused on familiarity or has relied on distance information. An analysis of these two parallel bodies of work reveals their lack of equivalence. Furthermore, definitions of familiarity need environmental grounding, specifically concerning the amount of size variation among different tokens of an object. To demonstrate the independence of size and distance perception, subjects in two experiments were asked to estimate the sizes of common objects from memory and then to estimate both the sizes and the distances of a subset of such objects displayed in front of them. The experiments found that token variation was a critical variable in the accuracy of size estimations, whether from memory or with vision, and that distance had no impact at all on size perception. Furthermore, when distance information was good, size had no effect on distance estimation; in contrast, at far distances, the distances to token variable or unknown objects were estimated with less accuracy. The results suggest that size perception has been misconceptualized, so that the relevant research to understand its properties has not been undertaken. The size-distance invariance hypothesis was shown to be inadequate for both areas of research.     

The independence of size perception and distance perception.

Research on distance perception has focused on environmental sources of information, which have been well documented; in contrast, size perception research has focused on familiarity or has relied on distance information. An analysis of these two parallel bodies of work reveals their lack of equivalence. Furthermore, definitions of familiarity need environmental grounding, specifically concerning the amount of size variation among different tokens of an object. To demonstrate the independence of size and distance perception, subjects in two experiments were asked to estimate the sizes of common objects from memory and then to estimate both the sizes and the distances of a subset of such objects displayed in front of them. The experiments found that token variation was a critical variable in the accuracy of size estimations, whether from memory or with vision, and that distance had no impact at all on size perception. Furthermore, when distance information was good, size had no effect on distance estimation; in contrast, at far distances, the distances to token variable or unknown objects were estimated with less accuracy. The results suggest that size perception has been misconceptualized, so that the relevant research to understand its properties has not been undertaken. The size-distance invariance hypothesis was shown to be inadequate for both areas of research.     

Breast Cancer Risk Assessment at the Time of Screening Mammography: Perceptions and Clinical Management Outcomes for Women at High Risk

The purpose of this study was to evaluate the utility of a breast cancer risk assessment (BCRA) at the time of screening mammogram. Women whose BCRA indicated a high risk for cancer received a letter with instructions for breast health care and genetic counseling if appropriate. After 6 months this group received surveys to evaluate their risk perception and their recall of, and compliance with, recommendations. We also explored the impact of other variables such as a recommendation for genetic counseling and physician communication with the women. After the BCRA, the majority of high risk women reported no change in their perceived risk of cancer. A woman’s perceived risk of cancer after a BCRA was significantly associated with her recall of recommendations for breast health care, but not with compliance. A recommendation for genetic counseling was not significantly related to women’s perceived risk of cancer after the BCRA. Ten percent of women who should have obtained genetic counseling actually completed an appointment. Women who discussed their BCRA results with their physicians were more compliant with a six month breast exam with a doctor (53% vs 17%, p = 0.018). Overall, women felt that the BCRA was helpful and did not cause undue stress or anxiety. Although the cohort’s compliance with recommendations was suboptimal, physicians’ interactions with their patients may have a positive influence on their compliance.     

Spiritual Assessment in Genetic Counseling

One hundred and twenty seven full members of the National Society of Genetic Counselors participated in this study exploring current spiritual assessment practices of genetic counselors and reactions to a spiritual assessment tool. While 60% of genetic counselors reported they had performed a spiritual assessment within the past year, fewer than 8.7% of these counselors assessed spirituality in more than half of their sessions. Counselors reporting high perceived relevance of spiritual assessment performed an assessment more frequently than those reporting a low perceived relevance. Barriers to spiritual assessment included lack of time, insufficient skills, and uncertainty regarding the role of spiritual assessment within genetic counseling. Almost two-thirds of counselors expressed that having a spiritual assessment tool would increase their ability to elicit relevant information. These data suggest a need for increased training regarding the methods for and relevance of spiritual assessment in genetic counseling. Recommendations for future directions of research are explored.     

Initiation of Reflective Frames in Counseling for Huntingtons Disease Predictive Testing

Genetic professionals and clients are likely to assign different meanings to the extended format of the counseling protocols for predictive testing. In order to facilitate informed, client-centered decisions about the possibility of predictive testing, counselors routinely use the question format to initiate what we call "reflective frames" that invite clients to discuss their feelings and encourage them to adopt introspective and self-reflective stances toward their own experience--spanning the past, the present, and the hypothetical future. We suggest that such initiations of reflective frames constitute a key element of counselors' nondirective stance, although the exact nature of their formulations can be complex and varied. Examining 24 Huntington's Disease (HD) clinic sessions involving 12 families in South Wales with the tools of discourse analysis, our focus in this paper is twofold: (i) to propose a classification of six types of reflective questions (e.g. nonspecific invites, awareness and anxiety, decision about testing, impact of result, dissemination, and other) and to examine their distribution across the various clinic appointments, and (ii) to investigate the scope of these questions in terms of temporal and social axes. We link our analysis to the current debate within the genetic counseling profession about the merits of reflection- versus information-focused counseling styles and the need to abide by professionally warranted and institutionally embedded counseling protocols.     

Counselees’ Expressed Level of Understanding of the Risk Estimate and Surveillance Recommendation are Not Associated with Breast Cancer Surveillance Adherence

We studied counselees’ expressed understanding of the risk estimate and surveillance recommendation in the final consultation for breast cancer genetic counseling in relation with their risk perception, worry and cancer surveillance adherence 1 year post-counseling. Consecutive counselees were included from 2008 to 2010. Counselees with an indication for diagnostic DNA-testing for themselves or a breast cancer affected relative were requested to complete online questionnaires before and after counseling and one year after counseling (N?=?152–124). Self-reported surveillance was compared to surveillance recommendations. Consultations were videotaped. Counselees’ reactions to the risks and recommendations were coded. Statements about the risk perception and surveillance intentions of breast cancer unaffected counselees were transcribed. Associations with outcomes were explored. Almost all breast cancer unaffected counselees (>90 %) reacted to their risk estimate with an utterance indicating understanding and this reaction was not significantly associated with their post-visit risk perception alignment. Over one-third (38.6 %) overestimated their risk post-counseling. Few counselees (5.8 %) expressed surveillance intentions. One year after counseling, about three-quarters (74.0 %) of the breast cancer unaffected counselees had adhered to the surveillance recommendation. Almost one-quarter (23.3 %) had performed more mammograms/MRI scans than recommended, which was associated with prior mammography uptake (n?=?47; X ² ?=?5.2; p?=?.02). Counselees’ post-counseling overestimation of their risk, high levels of worry and high surveillance uptake were not reflected in their reactions to the counselor’s information during the final visit.     

Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors

Updated from their original publication in 2004, these cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of counseling at-risk individuals through genetic cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Familial Cancer Risk Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Essential components include the intake, cancer risk assessment, genetic testing for an inherited cancer syndrome, informed consent, disclosure of genetic test results, and psychosocial assessment. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.     

“Testing Times,Challenging Choices”: An Australian Study of Prenatal Genetic Counseling

In many countries pregnant women deemed to be at increased risk for fetal anomaly following a screening test may attend a genetic counseling session to receive information and support in decision-making about subsequent diagnostic testing. This paper presents findings from an Australian study that explored 21 prenatal genetic counseling sessions conducted by five different genetic counselors. All were attended by pregnant women who had received an increased risk result from a maternal serum screening (MSS) test and who were offered a diagnostic test. Qualitative methods were used to analyze the content and structure of sessions and explore the counseling interactions. Findings from this cohort demonstrate that, within these prenatal genetic counseling sessions, counselor dialogue predominated. Overall the sessions were characterized by: a) an emphasis on information-giving b) a lack of dialogue about relevant sensitive topics such as disability and abortion. Arguably, this resulted in missed opportunities for client deliberation and informed decision-making. These findings have implications for the training and practice of genetic counselors and all healthcare professionals who communicate with women about prenatal testing.