Acceptance of Genetic Counseling and Testing in a Hospital-Based Series of Patients with Gynecological Cancer

Referral of patients with endometrial (EC) and/or ovarian cancer (OC) for genetic counseling is based on age at diagnosis and family history. Many patients with hereditary cancers are missed by following this strategy. We determined acceptance and mutation detection rate of offering genetic counseling and testing to unselected EC and OC patients. Therefore, in 2007, EC and OC patients were invited for genetic counseling and testing. Patients were asked for their reasons to accept or decline. Nineteen out of fifty-two EC patients (36 %) and twenty-two out of thirty-five OC patients (63 %) accepted genetic counseling, mainly to receive risk assessment for themselves and relatives. Counseling was declined mainly because patients did not want more tests or had no relatives for whom it was relevant. Eighteen out of nineteen EC patients (95 %) and twenty out of twenty-two OC patients (91 %) underwent genetic testing. One EC patient carried an MSH6 mutation (mutation detection rate: 6 %). BRCA1/2 mutations were found in two out of twenty OC patients (10 %). Eleven patients (29 %) received surveillance recommendations for themselves and their relatives. Finally, family history recorded by the gynecologist was compared to that taken by the clinical geneticist. Gynecologists reported family history in ten out of forty-one participants (24 %). In conclusion, genetic counseling and testing are acceptable to patients with OC and/or EC. The 10 % BRCA1/2 mutation detection rate and underreporting of family history by gynecologists warrant referral for genetic counseling for all OC patients, followed by BRCA1/2 testing if indicated. We recommend that microsatellite instability and immunohistochemical analysis be performed in all EC patients, followed by genetic counseling if appropriate. These strategies will lead to better cancer prevention in gynecological cancer patients and their relatives.     

Patient Perceptions of Telephone vs. In-Person <Emphasis Type="Italic">BRCA1/BRCA2</Emphasis> Genetic Counseling

Telephone genetic counseling (TC) for hereditary breast/ovarian cancer risk has been associated with positive outcomes in high risk women. However, little is known about how patients perceive TC. As part of a randomized trial of TC versus usual care (UC; in-person genetic counseling), we compared high risk women’s perceptions of: (1) overall satisfaction with genetic counseling; (2) convenience; (3) attentiveness during the session; (4) counselor effectiveness in providing support; and (5) counselor ability to recognize emotional responses during the session. Among the 554 participants (TC, N?=?272; UC, N?=?282), delivery mode was not associated with self-reported satisfaction. However, TC participants found counseling significantly more convenient than UC participants (OR?=?4.78, 95 % CI?=?3.32, 6.89) while also perceiving lower levels of support (OR?=?0.56, 95 % CI?=?0.40–0.80) and emotional recognition (OR?=?0.53, 95 % CI?=?0.37–0.76). In exploratory analyses, we found that non-Hispanic white participants reported higher counselor support in UC than in TC (69.4 % vs. 52.8 %; OR?=?3.06, 95 % CI?=?1.39–6.74), while minority women perceived less support in UC vs. TC (58.3 % vs. 38.7 %; OR?=?0.80, 95 % CI?=?0.39–1.65). We discuss potential research and practice implications of these findings which may further improve the effectiveness and utilization of TC.     

Cost Sharing and Hereditary Cancer Risk: Predictors of Willingness-to-Pay for Genetic Testing

Increasing use of predictive genetic testing to gauge hereditary cancer risk has been paralleled by rising cost-sharing practices. Little is known about how demographic and psychosocial factors may influence individuals’ willingness-to-pay for genetic testing. The Gastrointestinal Tumor Risk Assessment Program Registry includes individuals presenting for genetic risk assessment based on personal/family cancer history. Participants complete a baseline survey assessing cancer history and psychosocial items. Willingness-to-pay items include intention for: genetic testing only if paid by insurance; testing with self-pay; and amount willing-to-pay ($25–$2,000). Multivariable models examined predictors of willingness-to-pay out-of-pocket (versus only if paid by insurance) and willingness-to-pay a smaller versus larger sum (≤$200 vs. ≥$500). All statistical tests are two-sided (α?=?0.05). Of 385 evaluable participants, a minority (42 %) had a personal cancer history, while 56 % had ≥1 first-degree relative with colorectal cancer. Overall, 21.3 % were willing to have testing only if paid by insurance, and 78.7 % were willing-to-pay. Predictors of willingness-to-pay were: 1) concern for positive result; 2) confidence to control cancer risk; 3) fewer perceived barriers to colorectal cancer screening; 4) benefit of testing to guide screening (all p?p?相似文献   

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.     

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.     

Low Self-Esteem as a Risk Factor for Loneliness in Adolescence: Perceived - but not Actual - Social Acceptance as an Underlying Mechanism

Low self-esteem has been shown to relate to concurrent and later feelings of loneliness in adolescence. However, it remains unclear why low self-esteem puts adolescents at risk for experiencing loneliness. Further, longitudinal research on the direction of effects between loneliness and self-esteem is virtually non-existent. The present study aims to fill these gaps in the literature. First, the direction of effects between loneliness and self-esteem was investigated in two independent longitudinal studies: a five-wave study sampling Dutch adolescents (M age?=?15.22 years at T1; 47 % female; N?=?428) and a three-wave study sampling Belgian adolescents (M age?=?14.95 years at T1; 63 % female; N?=?882). Second, the underlying role of social acceptance was investigated in the latter sample by applying a multi-method approach that included actual (i.e., peer-reported) and perceived (i.e., self-reported) social acceptance. Results indicated that self-esteem and loneliness influenced one another in a reciprocal manner. Furthermore, the dominant path from self-esteem to loneliness was partially mediated by perceived—but not actual—social acceptance. The importance of distinguishing actual from perceived social acceptance is discussed, and suggestions for future research are outlined.     

Uptake of Cardiac Screening and Genetic Testing Among Hypertrophic and Dilated Cardiomyopathy Families

Cardiomyopathy is a genetically and clinically heterogeneous, life threatening disease which affects people of all ages. Recent guidelines provide recommendations for cardiac screening and genetic testing in at-risk relatives, but the uptake and impact of these measures in the United States is unknown. This is a single institution retrospective study that characterizes the uptake of cardiac screening and genetic testing for relatives of a cohort of 57 probands with hypertrophic (HCM) and dilated cardiomyopathy (DCM) who underwent both clinical evaluation and genetic testing. Cardiac screening was indicated for 302 relatives. One hundred and seventy-three (57 %) completed cardiac screening. Forty of the 57 probands were mutation positive and genetic testing was indicated for 213 relatives. Eighty-four (39 %) completed genetic testing. The uptake of cardiac surveillance was greater than the uptake of genetic testing (p?<?0.0001) among relatives of mutation positive probands. Within the group of at-risk, asymptomatic relatives of probands, cardiac screening and genetic testing were positive in 25 % and 40 % of cases, respectively. These data demonstrate the important role and utility of cascade cardiac screening and genetic testing in the care of patients and families with HCM or DCM. The approach to cardiac screening and genetic testing should be family-specific and requires expertise in the genetics of cardiomyopathy.     

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.     

Cancer Worry,Perceived Risk and Cancer Screening in First-Degree Relatives of Patients with Familial Gastric Cancer

Currently, there is a lack of evidence evaluating the psychological impact of cancer-related risk perception and worry in individuals at high risk for gastric cancer. We examined the relationships between perceived risk, cancer worry and screening behaviors among first-degree relatives (FDRs) of patients with familial gastric cancer. FDRs of patients diagnosed with familial gastric cancer with a non-informative genetic analysis were identified and contacted. Participants completed a telephone interview that assessed socio-demographic information, cancer risk perception, cancer worry, impact of worry on daily functioning, and screening behaviors. Twenty-five FDRs completed the telephone interview. Participants reported high levels of comparative and absolute cancer risk perception, with an average perceived lifetime risk of 54 %. On the other hand, cancer-related worry scores were low, with a significant minority (12 %) experiencing high levels of worry. Study participants exhibited high levels of confidence (median = 70 %) in the effectiveness of screening at detecting a curable cancer. Participants that had undergone screening in the past showed significantly lower levels of cancer-related worry compared to those that had never undergone screening. In conclusion, individuals at high-risk for gastric cancer perceived a very high personal risk of cancer, but reported low levels of cancer worry. This paradoxical result may be attributed to participants’ high levels of confidence in the effectiveness of screening. These findings highlight the importance for clinicians to discuss realistic risk appraisals and expectations towards screening with unaffected members of families at risk for gastric cancer, in an effort to help mitigate anxiety and help with coping.     

Perceptions of Gender Discrimination across Six Decades: The Moderating Roles of Gender and Age

In the current paper we examined whether women and men view gender discrimination as having changed over time, and if so: 1) how it has changed and 2) whether changes in anti-women bias are viewed as directly associated with changes in anti-men bias. Based on prior research (Norton and Sommers, 2011; Sidanius and Pratto, 1999), it was hypothesized that older men (35 years and older) compared to younger men (18–34 years of age) would hold a zero-sum view of gender discrimination trends in that older men would perceive increases in anti-men bias to accompany decreases in anti-women bias. Conversely, women, regardless of age, were expected to perceive changes in anti-women bias as unrelated to changes in anti-men bias. Results based on data from an online U.S. national sample (n?=?499) supported the hypotheses for older men (n?=?58), younger men (n?=?160), older women (n?=?96) and younger women (n?=?185) and corroborated parallel past findings that the historically dominant social group (older men in this case) perceive any status gained by a socially subordinate group (women) as coming at the dominant group’s expense.     

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.     

Prevalence of the HOXB13 G84E Mutation Among Unaffected Men with a Family History of Prostate Cancer

HOXB13 (G84E) was reported to significantly increase risk for prostate cancer. The goal of the current analysis was to assess the prevalence of G84E in ethnically-diverse high-risk men undergoing prostate cancer screening and place the carrier frequency within the context of prevalence estimates from reported studies to gain insight into the future role of this mutation in genetic counseling. PRAP is a prostate cancer screening program for unaffected men ages 35–69 with a family history of prostate cancer or African descent. HOXB13 G84E was genotyped by pyrosequencing in 649 PRAP participants with available DNA. Prevalence of the mutation was calculated for PRAP and for reported studies and exact binomial confidence intervals were generated. Prevalence of the G84E mutation in non-African PRAP men was 0.73 %. When placed in context of the literature, this was higher than reported controls. One G84E mutation carrier was notably of Hispanic background. While the HOXB13 G84E mutation may be rare, there may be a future role in genetic testing for this mutation after further studies of clinical utility in assessing prostate cancer risk.     

Risky Business: Risk Perception and the Use of Medical Services among Customers of DTC Personal Genetic Testing

Direct-to-consumer genetic testing has generated speculation about how customers will interpret results and how these interpretations will influence healthcare use and behavior; however, few empirical data on these topics exist. We conducted an online survey of DTC customers of 23andMe, deCODEme, and Navigenics to begin to address these questions. Random samples of U.S. DTC customers were invited to participate. Survey topics included demographics, perceptions of two sample DTC results, and health behaviors following DTC testing. Of 3,167 DTC customers invited, 33% (n?=?1,048) completed the survey. Forty-three percent of respondents had sought additional information about a health condition tested; 28% had discussed their results with a healthcare professional; and 9% had followed up with additional lab tests. Sixteen percent of respondents had changed a medication or supplement regimen, and one-third said they were being more careful about their diet. Many of these health-related behaviors were significantly associated with responses to a question that asked how participants would perceive their colon cancer risk (as low, moderate, or high) if they received a test result showing an 11% lifetime risk, as compared to 5% risk in the general population. Respondents who would consider themselves to be at high risk for colon cancer were significantly more likely to have sought information about a disease (p?=?0.03), discussed results with a physician (p?=?0.05), changed their diet (p?=?0.02), and started exercising more (p?=?0.01). Participants’ personal health contexts—including personal and family history of disease and quality of self-perceived health—were also associated with health-related behaviors after testing. Subjective interpretations of genetic risk data and personal context appear to be related to health behaviors among DTC customers. Sharing DTC test results with healthcare professionals may add perceived utility to the tests.     

Prognostic Factors for Distress After Genetic Testing for Hereditary Cancer

The psychological impact of an unfavorable genetic test result for counselees at risk for hereditary cancer seems to be limited: only 10–20 % of counselees have psychological problems after testing positive for a known familial mutation. The objective of this study was to find prognostic factors that can predict which counselees are most likely to develop psychological problems after presymptomatic genetic testing. Counselees with a 50 % risk of BRCA1/2 or Lynch syndrome completed questionnaires at three time-points: after receiving a written invitation for a genetic counseling intake (T1), 2–3 days after receiving their DNA test result (T2), and 4–6 weeks later (T3). The psychological impact of the genetic test result was examined shortly and 4–6 weeks after learning their test result. Subsequently, the influence of various potentially prognostic factors on psychological impact were examined in the whole group. Data from 165 counselees were analyzed. Counselees with an unfavorable outcome did not have more emotional distress, but showed significantly more cancer worries 4–6 weeks after learning their test result. Prognostic factors for cancer worries after genetic testing were pre-existing cancer worries, being single, a high risk perception of getting cancer, and an unfavorable test result. Emotional distress was best predicted by pre-existing cancer worries and pre-existing emotional distress. The psychological impact of an unfavorable genetic test result appears considerable if it is measured as “worries about cancer.” Genetic counselors should provide additional guidance to counselees with many cancer worries, emotional distress, a high risk perception or a weak social network.     

Disclosure of Genetics Research Results after the Death of the Patient Participant: A Qualitative Study of the Impact on Relatives

When a gene mutation is identified in a research study following the death of the study participant, it is not clear whether such information should be made available to relatives. We report here an evaluation of the impact on relatives of being informed of study results that detected pathogenic BRCA2 mutations in a male relative, now deceased, who had early onset (under the age of 55) prostate cancer. The breast and ovarian cancer risk was unknown to the living relatives. Qualitative analysis of interviews with thirteen relatives indicated that those who had a higher risk perception, resulting from an awareness of cancer family history or experiential knowledge of cancer in their family, tended to adjust more easily to the results. All participants believed that genetics research results of clinical significance should be fed back to relatives. Those who were fully aware of the BRCA2 results and implications for themselves felt they had benefited from the information, irrespective of whether or not they had elected for genetic testing, because of the consequent availability of surveillance programs. Initial anxiety upon learning about the BRCA2 result was alleviated by genetic counselling. Factors influencing those who have not engaged with the information included scepticism related to the relative who attempted to inform them, young age and fear of cancer. Those who had not sought genetic counselling did not attempt further dissemination, and some were not undergoing regular screening. Implications for informed consent in genetics research programs, and the requirement for genetic counselling when research results are disclosed, are discussed. Names have been changed to protect the privacy of study participants.     

Breast Cancer Genetics Knowledge and Testing Intentions among Nigerian Professional Women

Genetic testing services for breast cancer are well established in developed countries compared to African populations that bear a disproportionate burden of breast cancer (BC). The objective of this study is to examine the knowledge of professional Nigerian women about BC genetics and their intentions to utilize genetic testing services when it is made available in Nigeria. In this study, 165 lecturers and 189 bankers were recruited and studied using a validated self-administered questionnaire. The respondents’ mean age was 34.9 years (SD?=?10.9), 6.5% had family history of BC, and 84.7% had limited knowledge of breast cancer genetics. The proportion of women with genetic testing intentions for breast cancer was 87.3%. Health care access (OR?=?2.35, 95% CI, 1.07–5.13), religion (OR?=?3.51, 95% CI, 1.03–11.92), and perceived personal risk if a close relative had breast cancer (OR?=?2.31, 95% CI, 1.05–5.08) independently predicted testing intentions. The genetic testing intentions for BC were high despite limited knowledge about breast cancer genetics. Promotion of BC genetics education as well as efforts to make BC genetic testing services available in Nigeria at reduced cost remains essential.     

The Value of a Genetic Counselor: Improving Identification of Cancer Genetic Counseling Patients with Chart Review

Advances in genetics are changing cancer care and requiring institutions to maximize the unique skills of genetics professionals. The identification of genetic syndromes is vital for prevention and management of families with high cancer risks. Despite this, high risk individuals who qualify are often not referred. Genetic counselors could review oncology charts to improve identification. A genetics assessment tool developed by NCI Community Cancer Centers Program was used to perform self-assessment of the genetics program. A weekly report of all new oncology patients was provided to a genetic counselor for chart review. In 2010, 58 % of all eligible patients (n?=?152) were offered a genetics evaluation. In 2011 this improved to 70 % (n?=?167), which was a statistically significant difference, X ²(1)?=?5.13, p?=?0.02. By cancer site, ovarian cancer referrals also showed statistically significant improvement, X ²(1)?=?6.36, p?=?0.01. Breast and colon referrals were improved but not significant. Over 10 months, 129 patients were identified through the chart review program. Three were confirmed to have a genetic mutation for a hereditary cancer syndrome. An average week included review of 73 charts for 10 medical oncologists, 4 radiation oncologists, and 4 pediatric oncologists which generated 60–80 min of work for the genetic counselor. This program improved patient identification and quality, and allowed physicians to become more aware of opportunities for genetic counseling and more patients to receive genetic counseling and testing.