Susan K. Peterson

How families communicate about HNPCC genetic testing: Findings from a qualitative study

Little is known about how hereditary nonpolyposis colon cancer (HNPCC) genetic counseling and testing information is communicated within at‐risk families. This article describes findings from a qualitative study of 39 adult members from five families with known HNPCC‐predisposing mutations. We evaluated how information from HNPCC genetic counseling and testing was disseminated in these families and how family members reacted to and acted on this information. We included family members who had been diagnosed with an HNPCC syndrome cancer, unaffected individuals who were at 50% risk of carrying a mutation, and their spouses. Participants included those who had undergone testing and those who had not. In general, all families had shared the news about an HNPCC mutation with at‐risk relatives. Communication about HNPCC genetic counseling and testing followed the norms used for conveying other nonurgent family news. Mutation noncarriers, nontesters, and those who were not biological relatives were less involved in discussing genetic counseling and testing and perceived these processes as less relevant to them. Although all family members were generally willing to share information about HNPCC, probands and mutation carriers informed extended family members and actively persuaded others to seek counseling or testing. Family members who were persuaded to seek those services by the proband were more likely to have counseling and testing and were more likely to seek those services sooner. Genetic counseling should attempt to identify the existing communication norms within families and ways that family members can take an active role in encouraging others to learn about their cancer risk and options for testing. Interventions may also need to emphasize the relevance of hereditary cancer information beyond the immediate family and to unaffected family members who may be central to the communication process (e.g., spouses of mutation carriers).

Psychological impact of genetic testing for hereditary nonpolyposis colorectal cancer

PURPOSE This study examines the impact of hereditary nonpolyposis colorectal cancer (HNPCC) genetic test results on psychological outcomes among cancer-affected and -unaffected participants up to 1 year after results disclosure. PATIENTS AND METHODS A total of 155 persons completed study measures before HNPCC genetic testing, and at 2 weeks and 6 and 12 months after disclosure of test results. RESULTS Mean scores on all outcome measures remained stable and within normal limits for cancer-affected participants, regardless of mutation status. Among unaffected carriers of HNPCC-predisposing mutations, mean depression, state anxiety, and cancer worries scores increased from baseline to 2 weeks postdisclosure and decreased from 2 weeks to 6 months postdisclosure. Among unaffected noncarriers, mean depression and anxiety scores did not differ, but cancer worries scores decreased during the same time period. Affected and unaffected carriers had higher mean test-specific distress scores at 2 weeks postdisclosure compared with noncarriers in their respective groups; scores decreased for affected carriers and all unaffected participants from 2 weeks to 12 months postdisclosure. Classification of participants into high- versus low-distress clusters using mean scores on baseline psychological measures predicted significantly higher or lower follow-up scores, respectively, on depression, state anxiety, quality of life, and test-specific distress measures, regardless of mutation status. CONCLUSION Although HNPCC genetic testing does not result in long-term adverse psychological outcomes, unaffected mutation carriers may experience increased distress during the immediate postdisclosure time period. Furthermore, those with higher levels of baseline mood disturbance, lower quality of life, and lower social support may be at risk for both short- and long-term increased distress.

Correlates of Psychologic Distress in Colorectal Cancer Patients Undergoing Genetic Testing for Hereditary Colon Cancer

In this article the authors describe the demographic and psychosocial correlates of 2 measures of psychologic distress among 200 colorectal cancer patients undergoing genetic testing for hereditary nonpolyposis colon cancer. The prevalence of symptoms of depression on the Center for Epidemiologic Studies Depression (CES-D) Scale was 24%. In multivariate analysis, female sex, less formal education, fewer sources of social contacts, and less satisfaction with them were associated with high scores on the CES-D Scale. Characteristics associated with high scores on the State-Trait Anxiety Inventory were younger age, less formal education, non-White race, local-regional stage of disease, fewer social contacts, and less satisfaction with them. Information on psychosocial correlates of psychologic distress may prove useful in guiding genetic counseling sessions, in identifying subgroups that need more intensive follow-up, and in developing interventions to facilitate adjustment to genetic test results.

Cancers associated with BRCA1 and BRCA2 mutations other than breast and ovarian

Previous studies have reported additional cancers associated with BRCA mutations; however, the type, magnitude of risk, and sex differences remain to be clarified. The purpose of this study was to evaluate the incidence of cancers other than breast and ovarian cancer in known mutation carriers.

Use of an educational computer program before genetic counseling for breast cancer susceptibility: Effects on duration and content of counseling sessions

Purpose: Patients seeking genetic testing for inherited breast cancer risk are typically educated by genetic counselors; however, the growing demand for cancer genetic testing will likely exceed the availability of counselors trained in this area. We compared the effectiveness of counseling alone versus counseling preceded by use of a computer-based decision aid among women referred to genetic counseling for a family or personal history of breast cancer.Methods: We developed and evaluated an interactive computer program that educates women about breast cancer, heredity, and genetic testing. Between May 2000 and September 2002, women at six study sites were randomized into either: Counselor Group (n = 105), who received standard genetic counseling, or Computer Group (n = 106), who used the interactive computer program before counseling. Clients and counselors both evaluated the effectiveness of counseling sessions, and counselors completed additional measures for the Computer Group. Counselors also recorded the duration of each session.Results: Baseline characteristics did not differ significantly between groups. Participants and counselors both rated the counseling sessions as highly effective, whether or not the sessions were preceded by computer use. Computer use resulted in significantly shorter counseling sessions among women at low risk for carrying BRCA1/2 mutations. In approximately half of the sessions preceded by clients’ computer use, counselors indicated that clients’ use of the computer program affected the way they used the time, shifting the focus away from basic education toward personal risk and decision-making.Conclusion: This study shows that the interactive computer program “Breast Cancer Risk and Genetic Testing” is a valuable adjunct to genetic counseling. Its use before counseling can shorten counseling sessions and allow counselors to focus more on the clients’ individual risks and specific psychological concerns. As the demand for counseling services increases, a program such as this can play a valuable role in enhancing counseling efficiency.

Association Between Clinical Characteristics and Risk-Reduction Interventions in Women Who Underwent BRCA1 and BRCA2 Testing A Single-Institution Study

Women who are at increased risk for breast and ovarian cancers, especially BRCA1 and BRCA2 mutation carriers, face a myriad of risk‐reduction options, including increased surveillance, chemoprevention, prophylactic oophorectomy, and prophylactic mastectomy. However, little is known about which clinical, demographic, or cancer‐related factors are associated with risk‐reduction interventions.

Cost-effectiveness analysis of prevention strategies for gynecologic cancers in Lynch syndrome.

Women with Lynch syndrome (hereditary nonpolyposis colorectal cancer) have an increased lifetime risk for endometrial and ovarian cancer. Screening and prophylactic surgery have been recommended as prevention strategies. In this study, the authors estimated the net health benefits and cost‐effectiveness of these strategies in a Markov decision‐analytic model.

Association between contralateral prophylactic mastectomy and breast cancer outcomes by hormone receptor status

The effect of contralateral prophylactic mastectomy (CPM) on the survival of patients with early‐stage breast cancer remains controversial. The objective of this study was to evaluate the benefits of CPM using a propensity scoring approach that reduces selection bias from the nonrandom assignment of patients in observational studies.

Prophylactic bilateral salpingo-oophorectomy compared with surveillance in women with brca mutations

OBJECTIVE: The objective of this study was to evaluate clinical factors associated with choosing prophylactic bilateral salpingo-oophorectomy (BSO) over surveillance in women with a BRCA1 or BRCA2 mutation. METHODS: Between 1996 and 2005, 139 women who tested positive for a BRCA1 or BRCA2 mutation were identified. Thirty-three women were excluded due to a personal history of ovarian or fallopian tube cancer before genetic testing, resulting in 106 women for the final analysis. The characteristics of women who underwent prophylactic BSO were compared with those choosing surveillance. RESULTS: Sixty-five of the BRCA mutation carriers (61%) underwent prophylactic BSO. Median age at BSO was 45.6 years. Median time from disclosure of genetic test results to surgery was 4.6 months. Eighty-five percent of women who underwent prophylactic BSO were parous compared with 66% of women who chose surveillance (P = .03). A previous diagnosis of breast cancer was noted in 72% of women who underwent prophylactic BSO compared with 46% of women undergoing surveillance (P < .01). Fifty-two women (80%) had hysterectomy performed at the time of BSO. Two women had incidental ovarian cancer diagnosed at time of surgery. CONCLUSION: Age greater than 40 years, parity, and a personal history of breast cancer were associated with choosing prophylactic BSO in our cohort. A short time interval was noted from the time of receiving positive genetic test results to undergoing prophylactic surgery. LEVEL OF EVIDENCE: II-2

Perception of screening and risk reduction surgeries in patients tested for a BRCA deleterious mutation

Women at a high risk for breast cancer are offered choices for screening or prophylactic surgeries. The aim of this study was to evaluate opinions regarding screening and surgical strategies in high‐risk women.