Clinical Characterization and Risk Profile of Individuals Seeking Genetic Counseling for Hereditary Breast Cancer in Brazil

Hereditary breast cancer (HBC) accounts for 5–10% of breast cancer cases and it significantly increases the lifetime risk of cancer. Our objective was to evaluate the sociodemographic variables, family history of cancer, breast cancer (BC) screening practices and the risk profile of cancer affected or asymptomatic at-risk women that undergo genetic counseling for hereditary breast cancer in public Brazilian cancer genetics services. Estimated lifetime risk of BC was calculated for asymptomatic women using the Gail and Claus models. The majority of women showed a moderate lifetime risk of developing BC, with an average risk of 19.7% and 19.9% by the Gail and Claus models, respectively. The average prior probability of carrying a BRCA1/2 gene mutation was 16.7% and overall only 32% fulfilled criteria for a hereditary breast cancer syndrome as assessed by family history. We conclude that a significant number of individuals at high-risk for HBC syndromes may not have access to the benefits of cancer genetic counseling in these centers. Contributing factors may include insufficient training of healthcare professionals, disinformation of cancer patients; difficult access to genetic testing and/or resistance in seeking such services. The identification and understanding of these barriers is essential to develop specific strategies to effectively achieve cancer risk reduction in this and other countries were clinical cancer genetics is not yet fully established.     

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.     

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.     

Increasing Utilization of Cancer Genetic Counseling Services Using a Patient Navigator Model

Rarely has utilization of genetic counseling for Hereditary Breast and Ovarian Cancer (HBOC) been studied separately from utilization of testing. At Kaiser Permanente Colorado, consistently only 30% of all members referred for HBOC attend genetic counseling. To increase the volume of genetic counseling appointments, a patient navigator approach was pilot tested in a randomized-controlled trial over 3 months. A total of 125 members were referred for HBOC genetic counseling (55 randomized to PN, 70 randomized to usual care). Utilization of referrals for Navigator-assisted members was 44%, compared to 31% in the usual care arm (p=0.16). The patient navigator significantly decreased time to appointment, with over 80% of Navigator-assisted members seen for genetic counseling less than three months from referral date, compared to 32% in usual care (p=0.002). patient navigator assistance shortens time from referral to appointment for HBOC genetic counseling, and may increase utilization of such services.     

Risk-Reduction Surgery Decisions in High-Risk Women Seen for Genetic Counseling

Women at greatest risk for hereditary breast and ovarian cancer may consider prophylactic removal of breasts or ovaries as a risk-reduction measure. This report describes uptake of risk-reduction mastectomy (RRM), risk-reduction oophorectomy (RRO), and related factors in 62 high-risk women who received genetic counseling. Seven (11%) participants underwent RRM and 13 (21%) underwent RRO. Of these women, 37% did not have BRCA testing, suggesting other factors influence decisions to undergo surgery. Women who had indicated (pre-genetic counseling) their intent not to have surgery chose not to have surgery. Information received during genetic counseling that women perceived as being most important for influencing risk-reduction surgery decisions was BRCA test result (positive or negative), followed by discussion of family cancer history. Reasons for indecision about risk-reduction surgery included genetic testing results, concerns about surgery, timing in life, and early menopause. The findings enhance our understanding of information that is helpful to women considering this surgery.     

Billing and Record-Keeping for Familial Cancer Risk Counseling: A National Survey

We surveyed 111 genetic counselors providing cancer risk counseling (CRC) in order to document their billing and record-keeping practices. Of the 75 respondents, billing was generally done under the supervising physician with a wide variation in charges. Follow-up telephone interviews with 28 counselors who charge patients revealed that billing was usually done using the CPT codes for consultations, and the ICD-9 diagnostic codes for cancer (if applicable), a medical complaint, or a family history of cancer code. Most counselors exclude some clinical information from the patient's medical record. In consultation notes, 81% of counselors document a discussion of genetic testing, but only 37% document the patient's actual testing decision, and only 19% document test results. In anticipation of increased referrals for CRC, data are needed on the components of a CRC visit, the amount of time required to provide CRC, patient outcomes measures, and charges and reimbursement. The feasibility and advisability of keeping results separate from the patient's medical record also needs to be addressed.     

The Effect of Genetic Counseling on Knowledge and Perceptions Regarding Risks for Breast Cancer

In 1994, a clinic for cancer risk counseling was opened at Hadassah University Hospital in Jerusalem. Most of the counselees have been women who had breast cancer and/or a relative with breast cancer. In order to evaluate the effect of this counseling on women's knowledge and perceptions regarding the risks for breast cancer, a questionnaire was given before and after the counseling session to 60 healthy women who came to the clinic because they have relatives with breast cancer. According to the genetic counselors' estimations, most of these women had a significantly increased risk (compared to the general population) of developing cancer. Before counseling, the women overestimated the population risk for breast cancer, the contribution of heredity to morbidity of cancer, and their own risks to get cancer. After counseling session, they gave reduced estimates, closer to the real ones. The subjective perceptions regarding these risks were reduced after counseling, except for the perceptions regarding their relativerisks which have not changed after the counseling. About 90% of the women who came to the clinic wanted to be tested for genetic predisposition to cancer. For most of these women, the expectations that the test can rule out a genetic predisposition to cancer became more realistic after the counseling. The option to first test an affected relative was offered to all families, and a test was actually conducted in 75% of the families.     

Complexities in Cancer Risk Counseling: Presentation of Three Cases

Complexities abound in the identification and management of families at increased risk for inherited forms of cancer. One of the ways to learn as a profession how best to provide cancer risk counseling (CRC) is to share counseling experiences. Such cases can provide insight into the issues raised by families and ways in which genetic counselors have handled complex situations. Here we describe three CRC cases initially presented at the 1995 American College of Medical Genetics meeting. The first case involves balancing the importance of informing a family of the presence of an inherited cancer syndrome with the family's right not to know. The second case illustrates the difficulties in assisting an individual to make medical management decisions in the face of uncertain risk information. The third case describes the complex interactions with a woman before and after her decision to have prophylactic surgery. (affiliated with Long Beach Memorial Breast Center at the time of counseling)     

The Prophylactic Mastectomy Dilemma: A Support Group for Women at High Genetic Risk for Breast Cancer

The goal of this pilot study was to test the usefulness of a six session psychoeducational support group for women at high genetic risk for breast cancer who were considering prophylactic mastectomy. The themes of the group sessions included overestimation of and anxiety about risk; desire for hard data; the emotional impact of watching a mother die of breast cancer; concerns about spouse reactions; self- and body image; the decision-making process; and confusion over whom to trust in decision making. Both the participants and the multidisciplinary leaders concluded that as a supplement to individual counseling, a support group is a beneficial and cost-effective treatment modality. Recommendations for the optimal format for such a group are described.     

Measurement of Depressive Symptoms in Women With Breast Cancer and Women With Clinical Depression: A Differential Item Functioning Analysis

Differential item functioning (DIF) analyses of the Beck Depression Inventory-II (BDI-II) were conducted on samples of 267 women with breast cancer and 294 women with clinical depression. Patterns of items in which there was significant and nonsignificant DIF were identified using statistical tests and measures of DIF effect size. At the most general level, 15 of 21 BDI-II items were associated with nontrivial DIF suggesting that the item responses of these samples do not reflect the same underlying construct. Factor analyses of the BDI-II using a psychometrically defensible method for item level factor analysis supported the conclusions from the DIF analyses. These findings suggest that researchers and practitioners should apply caution when interpreting self-report depression symptoms in breast cancer patients.     

Effects of Counseling and Ethnic Identity on Perceived Risk and Cancer Worry in African American Women

Improving breast screening behaviors in African American women is an important public health goal. To increase participation in screening, it is necessary to identify factors that contribute to reduced screening, including perceived risk and cancer worry. This paper presents predictors of changes perceived in risk and worry among African American women of differing ethnic identities as they undergo breast cancer risk counseling. Participants (n = 113) were recruited from community sources to a study of counseling for breast cancer risk. They completed a baseline assessment, randomly received breast cancer risk counseling or served as a control group, and completed a follow-up assessment. Counseling produced significant differences in perceived risk and cancer worry. Predictors of risk and worry changes, as a result of counseling, included income and ethnic identity. These data can guide better services for African American women and research into the complexity of the effects of ethnic identity on health.     

Assessment of the Use and Feasibility of Video to Supplement the Genetic Counseling Process: A Cancer Genetic Counseling Perspective

Cancer genetic counselors use a variety of teaching modalities for patient education. This survey of cancer genetic counselors assessed their use of educational videos and their recommendations for content of future videos. Thirty percent of respondents use videos for patient education. Cited benefits included reinforcement of information for clients and increased counselor efficiency. Of the 70% who do not use videos, predominant barriers included the perceived lack of an appropriate video, lack of space and/or equipment, and concern that videos are impersonal. Most respondents desired a video that is representative of the genetic counseling session, but emphasized the importance of using broad information. Content considered critical included the pros and cons of genetic testing, associated psychosocial implications, and genetic discrimination. The results of this exploratory study provide data relevant for the development of a cancer genetics video for patient education, and suggestions are made based on aspects of information processing and communication theories.     

Incorporating a Psychological Counselor in a Cancer Risk Assessment Program: Necessity, Acceptability, and Potential Roles

Evidence suggests that cancer risk assessment may be associated with increased psychological distress. This exploratory study assessed the necessity and acceptability of incorporating psychological counseling into routine clinic procedures at a cancer risk program. Following a visit to a university-based cancer risk clinic, patients (N = 102) completed an anonymous self-report instrument. Participants reported experiencing current stress and anxiety (41%), depression (29%), and suicidal ideation (2%). Patients with a history of cancer were more likely to be experiencing current emotional difficulties. Sixty-nine percent of the participants found the visit with the psychological counselor to be helpful, while 41% of the participants reported interest in follow-up psychological services. Interest in receiving future psychological services was positively correlated with levels of anxiety, depression, and cancer worry. This pilot study demonstrates the acceptability and potential role for psychological counselors in increasing adjustment in high-risk patients undergoing genetic counseling for inherited cancers.     

Reducing Psychological Distress in a Genetic Counseling Consultation for Breast Cancer

High levels of cancer specific distress have been found before and after genetic counseling for breast cancer. This study investigated the process of reducing distress during 111 genetic counseling consultations for familial breast cancer. Consultations were audiotaped, transcribed, and a detailed coding system developed to measure cues of emotional distress from the patient, and consultant (clinical geneticist or genetic counselor) behaviors before and after the cues. At least 1 emotional cue was given in 64 consultations, with a median of 1 cue per consultation. More emotional cues of distress occurred when the consultant responded empathetically to the first cue of distress. Satisfaction outcomes were largely positive regardless of the consultant's attentiveness to distress. Postconsultation depression scores were significantly reduced if more empathic responses were given, but anxiety remained the same. These results are discussed and recommendations are made for improving patient care.     

Family Communication and Genetic Counseling: The Case of Hereditary Breast and Ovarian Cancer

In familial breast/ovarian cancer, the information that the proband is able to supply about other family members is of critical importance for genetic counseling. This frequently requires family communication. Forty-six women attending a cancer genetics clinic were interviewed as part of a longitudinal study. Nearly all reported affected maternal, rather than paternal relatives, which may indicate lack of awareness by women with paternal histories. There was also much more communication among female relatives. Mothers, where they were still alive, were key figures in supplying family information. Although the majority of the sample contacted at least one relative regarding counseling, most named a relative with whom they did not feel able to communicate on this subject. Probands balanced the perceived obligation of passing on information with that of not causing alarm. Communication, both obtaining and giving information, was impeded by adoption, divorce and remarriage, family rifts, and large age gaps between siblings.     

An Assessment of Risk Understanding in Hispanic Genetic Counseling Patients

This study sought to identify if differences existed in risk comprehension and risk format understanding between genetic counseling patients of Hispanic and Caucasian ethnicity. A total of 107 questionnaires were collected, 56 from Hispanic patients, and 51 from Caucasian controls. Of the total population 41.1% (44/107) could not demonstrate sufficient risk understanding, which was 71.4% (40/56) of Hispanics and 7.8% (4/51) of Caucasians. Fractions were the best-understood format for all participants. However, both Hispanics and Caucasians had difficulties with the percentage risk format. Discrepancies were also noted in qualitative word format understanding. Awareness of differences in risk comprehension may affect the selection of counseling techniques and strategies utilized by genetic counselors when educating patients about risk related information.     

Risk Perception,Worry and Satisfaction Related to Genetic Counseling for Hereditary Cancer

In this multi center study, genetic counseling for hereditary cancer was evaluated by assessing patients’ worry, perceived risk of developing cancer and satisfaction with genetic counseling. An overall aim was to identify characteristics of vulnerable patients in order to customize genetic counseling. In addition, agreement between patients’ and counselors’ scores was measured. A total of 275 Norwegian patients were consecutively recruited, and 213 completed questionnaires before and after genetic counseling. Patients’ perceived risk decreased after the genetic counseling session. There was incongruence between risk perception expressed as a percentage and in words. Patients were significantly less worried after counseling. Higher levels of worry were predicted by low instrumental satisfaction with counseling, high degree of perceived risk of developing cancer and younger age. In conclusion, counselors met the patients’ psychological needs to a satisfactory degree during counseling. However, patients did not fully understand their risk of developing cancer.     

Cancer Risk Assessment and Genetic Counseling in an Academic Medical Center: Consultands' Satisfaction, Knowledge, and Behavior in the First Year

In 1995, we formally established a multifaceted cancer genetics program of clinical services, research, and education at a general academic medical center. In the first year, 58 families, mostly physician referred, received cancer risk assessment and genetic counseling for a family and/or medical history of cancer. The primary reasons for seeking consultation were to determine their risk or their offspring's risk for developing certain cancers and to inquire about the availability of DNA testing for predisposition to breast, ovarian, or colon cancers. To assess the level of satisfaction with program services, 51 consultands (22% with a personal history of cancer) were interviewed independently by telephone 3–12 months after the session. One goal of the survey was to improve program service. Ninety percent of respondents reported that the consultation was worth their time and money. Forty-two percent stated that their anxiety related to their cancer risk had decreased following counseling and 56% indicated no change. Recall of exact numerical risk was poor and one-third could not remember hearing any risk estimate. More respondents would recommend the service to friends (90%) than to family members (75%). Overall, the service was positively received by the majority of patients.     

Risk Assessment and Genetic Counseling for Hereditary Breast and Ovarian Cancer: Recommendations of the National Society of Genetic Counselors

These cancer genetic counseling recommendations describe the medical, psychosocial and ethical implications of identifying at-risk individuals for hereditary breast and ovarian cancer (HBOC) through cancer risk assessment, with or without genetic susceptibility 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 as well as the professional expertise of genetic counselors with significant experience in education and counseling regarding hereditary breast and ovarian cancer. Critical components of the process include the ascertainment of medical and family histories, determination and communication of cancer risk, assessment of risk perception, education regarding the genetics of HBOC, discussion of molecular testing for HBOC if appropriate (including benefits, risks and limitations) and any necessary follow-up. These recommendations do not dictate an exclusive course of management or guarantee a specific outcome. Moreover, they do not replace the professional judgment of a health care provider based on the clinical situation of a client.