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.     

High Satisfaction and Low Distress in Breast Cancer Patients One Year after <Emphasis Type="Italic">BRCA</Emphasis>-Mutation Testing without Prior Face-to-Face Genetic Counseling

According to standard practice following referral to clinical genetics, most high risk breast cancer (BC) patients in many countries receive face-to-face genetic counseling prior to BRCA-mutation testing (DNA-intake). We evaluated a novel format by prospective study: replacing the intake consultation with telephone, written and digital information sent home. Face-to-face counseling then followed BRCA-mutation testing (DNA-direct). One year after BRCA-result disclosure, 108 participants returned long-term follow-up questionnaires, of whom 59 (55 %) had previously chosen DNA-direct (intervention) versus DNA-intake (standard practice i.e., control: 45 %). Questionnaires assessed satisfaction and psychological distress. All participants were satisfied and 85 % of DNA-direct participants would choose this procedure again; 10 % would prefer DNA-intake and 5 % were undecided. In repeated measurements ANOVA, general distress (GHQ-12, p?=?0.01) and BC-specific distress (IES-bc, p?=?0.03) were lower in DNA-direct than DNA-intake at all time measurements. Heredity-specific distress (IES-her) did not differ significantly between groups. Multivariate regression analyses showed that choice of procedure did not significantly contribute to either general or heredity-specific distress. BC-specific distress (after BC diagnosis) did contribute to both general and heredity-specific distress. This suggests that higher distress scores reflected BC experience, rather than the type of genetic diagnostic procedure. In conclusion, the large majority of BC patients that used DNA-direct reported high satisfaction without increased distress both in the short term, and 1 year after conclusion of genetic testing.     

Exploration of Male Attitudes on Partnerships and Sexuality with Female <Emphasis Type="Italic">BRCA1/2</Emphasis> Mutation Carriers

Women with BRCA mutations are inundated with decisions about managing cancer risks and childbearing considerations. Decisions become more complicated when women face disclosing their mutation and risk-reduction options to a romantic partner. This study identifies the concerns and perspectives of male romantic partners regarding these unique decisions. Twenty-five male participants completed an online survey posted to cancer support group message boards. Participants reported relationship changes regarding intimacy levels (n?=?9), attraction (n?=?2), and communication (n?=?22) after mutation disclosure. Participants whose partners had not undergone prophylactic mastectomy (n?=?14) reported concerns regarding sexual relations (n?=?5), post-surgical appearance (n?=?2), post-surgical attraction (n?=?5), and health/lifespan (n?=?9). Participants did not express attitude changes toward childbearing. While mutation disclosure conversations and surgical options are concerns for many BRCA mutation carriers in relationships, male partners share these concerns. Aspects of the relationship may change, but male study participants continued to support their partners. This information can benefit female BRCA mutation carriers, their current or future partners, and genetic counselors working with this particular population.     

“I Don’t Want to Be an Ostrich”: Managing Mothers’ Uncertainty during BRCA1/2 Genetic Counseling

Families who face genetic disease risk must learn how to grapple with complicated uncertainties about their health and future on a long-term basis. Women who undergo BRCA 1/2 genetic testing describe uncertainty related to personal risk as well as their loved ones’, particularly daughters’, risk. The genetic counseling setting is a prime opportunity for practitioners to help mothers manage uncertainty in the moment but also once they leave a session. Uncertainty Management Theory (UMT) helps to illuminate the various types of uncertainty women encounter and the important role of communication in uncertainty management. Informed by UMT, we conducted a thematic analysis of 16 genetic counseling sessions between practitioners and mothers at risk for, or carriers of, a BRCA1/2 mutation. Five themes emerged that represent communication strategies used to manage uncertainty: 1) addresses myths, misunderstandings, or misconceptions; 2) introduces uncertainty related to science; 3) encourages information seeking or sharing about family medical history; 4) reaffirms or validates previous behavior or decisions; and 5) minimizes the probability of personal risk or family members’ risk. Findings illustrate the critical role of genetic counseling for families in managing emotionally challenging risk-related uncertainty. The analysis may prove beneficial to not only genetic counseling practice but generations of families at high risk for cancer who must learn strategic approaches to managing a complex web of uncertainty that can challenge them for a lifetime.     

Factors Influencing Clinical Follow-Up for Individuals with a Personal History of Breast and/or Ovarian Cancer and Previous Uninformative <Emphasis Type="Italic">BRCA1</Emphasis> and <Emphasis Type="Italic">BRCA2</Emphasis> Testing

Genetic testing for inherited cancer risk has recently improved through the advent of multi-gene panels and the addition of deletion and duplication analysis of the BRCA genes. The primary aim of this study was to determine which factors influence the intent of individuals with a personal history of breast and/or ovarian cancer and negative or uncertain BRCA1 and BRCA2 testing to return to a hereditary cancer program for additional genetic risk assessment, counseling, and testing. Surveys were sent to 1197 individuals and 257 were returned. Of those participants who were planning to return to clinic, most cited having family members who could benefit from the test result as the primary motivation to return. Many participants who were not planning to return to clinic cited the cost of testing as a barrier to return. Cost of testing and concerns about insurance coverage were the most commonly cited barriers for the group of participants who were undecided about returning to clinic. Results from this study may be used to guide re-contact efforts by clinicians to increase patient uptake to return to clinic for up-to-date genetic risk assessment, counseling, and testing.     

Living With Genetic Vulnerability: a Life Course Perspective

This is the second article of a two part series about utilizing the life course perspective (LCP) in genetic counseling. Secondary data analysis was conducted on a grounded theory, longitudinal study which provided a wide focus on living with hereditary breast and ovarian cancer (HBOC) risk. The aim of this analysis was to explore the longitudinal data for both the temporal and social context of living with BRCA mutation genetic test results. Sixteen women from two previous studies were interviewed on multiple occasions over an 8 year time period. The LCP was used to direct a thematic analysis of the data. Families experience the consequences of knowing they carry a BRCA1 or BRCA2 gene mutation long after the initial diagnosis. These women’s experiences across time reflect the concepts of the LCP and show how life is changed when families know they live with a genetic vulnerability to an adult-onset and potentially life-threatening disease. Different emphases on concepts from the LCP were evident across the different age groups. For example, the group of 40–50 year old women emphasized the concept of linked lives, those in their 30’s focused on human agency and women in their 20’s were more focused on timing of events. This study helps give direction to healthcare providers counseling women living with a BRCA mutation.     

The Impact of Angelina Jolie (AJ)’s Story on Genetic Referral and Testing at an Academic Cancer Centre in Canada

In May 2013, Angelina Jolie revealed to the media that she had undergone preventive double mastectomy after testing positive for a BRCA1 gene mutation. Media coverage has been extensive, but it is not clear how such a personal story affected the public and cancer genetics clinics. We conducted a retrospective review using data from the clinical database of the Familial Cancer Program at our centre. The impact of Ms. Jolie’s story on genetic counseling referrals and the appropriateness of such referrals were assessed and reported. The number of women referred for genetic counseling increased by 90 % after 6 months and remained high one year after AJ’s story with an increase of 88 % from baseline. The number of women who qualified for genetic testing increased by 105 % after 6 months; this increase persisted but was somewhat lower after one year with an increase of 68 % from baseline. Furthermore the number of BRCA1/2 carriers identified increased by 110 % after 6 months and by 42 % after one year.The effect of Mrs. Jolie’s story persisted one year after its release; however in the latter half of the year, the hereditary cancer risk of referred women was significantly lower than initially observed. The next challenge for our health care system will not only be to meet the increased demand for cancer genetic services in our region, but also to ensure that referrals and hence use of genetic counseling resources are appropriate.     

Patient Perspectives on Intimate Partner Violence Discussion during Genetic Counseling Sessions

Intimate partner violence (IPV) is a major health concern in the United States (ACOG 2013). The World Health Organization (WHO) describes IPV as any physical, sexual, psychological harm by a current or former intimate partner (WHO 2016). Due to the psychosocial depth and nature of discussions within genetic counseling sessions, patients may disclose and/or discuss IPV as it relates to sexual well-being, reproductive and overall health. This study aims to assess the role for IPV screening, counseling and intervention in genetic counseling practice by investigating the incidence, experiences and attitudes about IPV among genetic counseling patients. Patients receiving genetic counseling at an urban metropolitan hospital were anonymously surveyed about experiences and perspectives on IPV as a topic of discussion during genetic counseling sessions. Among 60 eligible patients, 50 completed the survey (49 females, 1 male, of which, 5 identified as LGBT) ages 20 to 66. The incidence of IPV in this group was 16.0 % (n = 8). Majority of participants had never been asked about IPV by a healthcare provider (n = 32; 64.0%), would have felt comfortable answering questions about IPV by their healthcare provider (n = 34; 68.0%), and would have felt comfortable answering questions about IPV by their genetic counselor (n = 39; 78.0%). Perspectives from all participants, notably those with IPV history, provided insights to the role of genetic counselors in areas for IPV screening and counseling training.     

Genetic Counselors’ Perceived Responsibilities Regarding Reproductive Issues for Patients at Risk for Huntington Disease

Research indicates that health care professionals’ attitudes may affect patients’ decisions regarding prenatal Huntington Disease testing, but few studies have sampled genetic counselors. In this qualitative study, genetic counselors described their experiences counseling individuals at risk for HD regarding reproductive decision-making. Five major research questions were investigated: 1) What are genetic counselor responsibilities? 2) What issues arise for patients and counselors? 3) How do counselors reconcile prenatal testing with presymptomatic testing? 4) To what extent are counselors’ initial expectations of at-risk patients’ beliefs and behaviors met? and 5) What advice would counselors offer to novice practitioners about working with this patient population? Fifteen genetic counselors experienced in counseling individuals at risk for HD participated in a semi-structured phone interview that yielded several themes. For example, participants identified their primary responsibility as information provision; less prevalent were psychosocial support and facilitating decision making. The most common ethical challenge was testing prenatally for HD which also results in presymptomatic testing of minors. Participants were divided about how directive to be in response to this ethical issue and about termination of a gene positive pregnancy.     

The Changing Age of Individuals Seeking Presymptomatic Genetic Testing for Huntington Disease

Huntington disease (HD) is a progressive neurodegenerative disorder. Presymptomatic genetic testing allows at-risk individuals to clarify their risk status. Understanding the characteristics and motivations of individuals seeking HD presymptomatic genetic testing better equips genetic counselors and other healthcare professionals to provide comprehensive and personalized care. The aims of this study were to (1) determine whether the average age when individuals seek presymptomatic HD genetic testing has decreased over time, (2) assess motivations for seeking testing, (3) explore whether there is a relationship between age and motivations, and (4) explore genetic counselors’ perceptions of the shift in age. Data from the US HD testing centers (N?=?4) were analyzed. A small but statistically significant decrease in age of individuals seeking presymptomatic testing was observed (p?=?0.045). HD community members (N?=?77) were surveyed regarding presymptomatic testing motivations. Younger individuals were more likely than older individuals to cite “To learn whether or not you would develop HD” and “To make choices about further education or a career” compared to older individuals (p?<?0.05). Conversely, older individuals more frequently cited “To give children a better idea of their risk” (p?<?0.002). Sixteen percent of genetic counselors surveyed (6/37) perceived a change in age of testing. All of these respondents had provided HD testing for ten or more years and anecdotally believed the age at testing has decreased over time. Study results help providers personalize counseling based on patient’s age and serve as a starting point for more research into the relationship between age at testing and motivations for testing.     

Perceived Autonomy Support Moderates the Relations between Counseling Self-Efficacy and Flow among Filipino Counselors

Contemporary literature has emphasized the vital role of supervision in the professional growth of counselors and therapists. Even some counselor developmental models argued that improvement in counselor autonomy, motivation, and self-efficacy is highly contingent upon counseling supervision, especially in Western settings. Yet, there is marked scarcity of studies examining the antecedents of flow in non-Western contexts. As such, the central aim of the current study was to assess the moderating effects of perceived autonomy support from supervisors on the relations between counseling self-efficacy (CSE) and state flow among Filipino counselors. A sample of 131 Filipino counselors in Metro Manila participated in the research through answering questionnaires that measured the aforementioned constructs. The findings of correlational analyses have shown that counseling self-efficacy and perceived autonomy support are positively associated with state flow. The results of path analysis revealed a significant moderation effect. This suggests that for Filipino counselors who had greater perceptions that their supervisors provide autonomy in their counseling practice (perceived autonomy support), having lower perceived capabilities in performing counseling duties may lead to higher immersion and enjoyment in counseling activities, while for those who have low perceived autonomy support, having higher levels of counseling self-efficacy will lead to lower flow. Implications of these findings in theory and practice are elucidated.     

Cancer Susceptibility Genetic Testing in a High-Risk Cohort of Urban Ashkenazi Jewish Individuals

Prior to 2013, genetic testing for Ashkenazi Jewish (AJ) individuals primarily consisted of the three-site BRCA1/BRCA2 AJ panel, full sequencing of BRCA1/2, or the Lynch syndrome mismatch repair genes. Multigene panel testing became more widely available in 2013, but limited data are available regarding the impact of multigene panel testing for AJ individuals. Here, we report the frequency of cancer susceptibility gene mutations in a cohort of 427 AJ individuals seen in the Cancer Risk Clinic at The University of Chicago. We found that 29% of affected and 37% of unaffected individuals carried a pathogenic mutation (32% of overall cohort), primarily known familial mutations in BRCA1/2. A minority of mutations were identified in non-BRCA1/2 genes and consisted mainly of AJ founder mutations in CHEK2, APC, and the mismatch repair genes. A panel of AJ founder mutations would have identified the majority (94%) of mutations in clinically actionable genes in both affected and unaffected patients. Based on recent cost-effectiveness studies, offering all AJ individuals a founder mutation panel may be a cost-effective cancer prevention strategy.     

Mindfulness Among Genetic Counselors Is Associated with Increased Empathy and Work Engagement and Decreased Burnout and Compassion Fatigue

Genetic counselors experience high rates of compassion fatigue and an elevated risk for burnout, both of which can negatively impact patient care and retention in the profession. In other healthcare professions, mindfulness training has been successfully used to address similar negative psychological sequelae and to bolster empathy, which is the foundation of our counseling work. We aimed to assess associations between mindfulness and key professional variables, including burnout, compassion fatigue, work engagement, and empathy. Data were collected via an anonymous, online survey that included validated measures of mindfulness and these key professional variables. The survey was completed by 441 genetic counselors involved in direct patient care. Half of the respondents (50.1%) reported engaging in yoga, meditation, and/or breathing exercises. Mindfulness was positively correlated with work engagement (r?=?0.24, p?<?0.001) and empathy (as measured through four subscales: perspective taking (r?=?0.15, p?=?0.002), empathic concern (r?=?0.11, p?=?0.03), fantasy (r?=???0.11, p?=?0.03) and personal distress (r?=???0.15, p?=?0.001)). Mindfulness was negatively correlated with compassion fatigue (r?=???0.48, p?<?0.001) and burnout (r?=???0.50, p?<?0.001). Given these findings, mindfulness training may be a valuable addition to graduate and continuing education for genetic counselors. The integration of mindfulness into the genetic counseling field will likely improve professional morale and well-being, while promoting workforce retention and bolstering the relational and counseling aspects of our clinical work.     

Have You Ever Googled a Patient or Been Friended by a Patient? Social Media Intersects the Practice of Genetic Counseling

Patients and healthcare providers are becoming increasingly connected via social media, bringing new opportunities and challenges. Direct connection can occur between patients and providers using online tools such as Facebook and LinkedIn. In addition, providers can gather information about patients using a search engine such as Google, referred to as patient-targeted Googling (PTG). An online 54-item survey was used to gain information on (1) how and to what extent genetic counseling students and genetic counselors connect directly with patients via social media sites, and (2) gather information on providers using PTG. Four hundred genetic counseling students and genetic counselors participated in the survey. The majority of respondents (88.9%; n?=?344/387) find it is never or rarely acceptable to interact with current patients via social media sites; however, 27.7% (n?=?110/397) have visited a patient’s social media site. Gathering information for patient care was the most commonly reported reason (76.8%; n?=?43/56). Thirty-three percent (n?=?130/394) have considered searching online or actually searched online for information about a patient. Curiosity was the most common reason (92.7%; n?=?114/123); although, respondents also used PTG to obtain contact information and to prepare for patient sessions. Our study supports the need for development and dissemination of professional guidelines to serve as a valuable resource for practicing genetic counselors and genetic counseling training programs.     

Parkinson’s Disease: Patients’ Knowledge,Attitudes, and Interest in Genetic Counseling

The objective of this study was to assess the genetics knowledge of patients with Parkinson’s disease (PD), and to explore their attitudes on genetic testing and interest in genetic counseling. We surveyed 158 patients from the University of Maryland Parkinson’s Disease and Movement Disorders Center. Patients averaged a score of 63% on general genetics knowledge and 73% on PD genetics knowledge. Participants had an overall positive attitude toward genetic testing: 80% believed that the use of genetic tests among people should be promoted, and 83% would undertake genetic test for PD if it was available. Patients reported a high interest to discuss the benefits, risks, and impacts of genetic testing for PD (mean sum score?=?26, range?=?9–35), and 43% patients expressed interest in meeting with a genetic counselor. Multivariate regression analysis showed that patients who had more positive attitudes toward genetic testing for PD were more interested in meeting with a genetic counselor (β?=?0.6, p?<?0.001). This study is the first to demonstrate an interest in genetic counseling among patients with PD. Our findings demonstrate a new niche for genetic counselors to support patients in clarifying gaps or misconceptions in knowledge about PD genetics as well as the possible risks, benefits, and limitations of genetic testing.     

Psychological Distress,Anxiety, and Depression of Cancer-Affected BRCA1/2 Mutation Carriers: a Systematic Review

Understanding the intermediate- and long-term psychological consequences of genetic testing for cancer patients has led to encouraging research, but a clear consensus of the psychosocial impact and clinical routine for cancer-affected BRCA1 and BRCA2 mutation carriers is still missing. We performed a systematic review of intermediate- and long-term studies investigating the psychological impact like psychological distress, anxiety, and depression in cancer-affected BRCA mutation carriers compared to unaffected mutation carriers. This review included the screening of 1243 studies. Eight intermediate- and long-term studies focusing on distress, anxiety, and depression symptoms among cancer-affected mutation carriers at least six months after the disclosure of genetic testing results were included. Studies reported a great variety of designs, methods, and patient outcomes. We found evidence indicating that cancer-affected mutation carriers experienced a negative effect in relation to psychological well-being in terms of an increase in symptoms of distress, anxiety, and depression in the first months after test disclosure. In the intermediate- and long-term, no significant clinical relevant symptoms occurred. However, none of the included studies used specific measurements, which can clearly identify psychological burdens of cancer-affected mutation carriers. We concluded that current well-implemented distress screening instruments are not sufficient for precisely identifying the psychological burden of genetic testing. Therefore, future studies should implement coping strategies, specific personality structures, the impact of genetic testing, supportive care needs and disease management behaviour to clearly screen for the possible intermediate- and long-term psychological impact of a positive test disclosure.     

Lifestyle Risk Factors Among People Who Have Had Cancer Genetic Testing

Hereditary cancer genetic counseling often focuses on medically intensive risk-reduction strategies, like imaging and risk-reducing surgeries. Lifestyle factors also influence cancer risk, but health behavior counseling is not common in genetic counseling. Information about typical lifestyle risk factors among patients seeking hereditary cancer risk is sparse. The current study describes cancer risk-relevant lifestyle factors for people who have had cancer genetic testing. Data came from the Health Information National Trends Survey (HINTS 4) collected in 2013. Analytic variables represented American Cancer Society nutrition and physical activity guidelines. Lifestyle factors were assessed for people who had undergone testing for BRCA1, BRCA2, or Lynch Syndrome genes. Among 3016 HINTS respondents, 135 had cancer genetic testing. Of these, 58 % were overweight or obese. Eighteen percent reported no moderate-intensity physical activity. Average sedentary screen-time was 3.4 h (SE = 0.472) daily. Sixty-three percent drank non-diet soda, and 23 % of these people drank soda every day. Between 18 and 36 % consumed less than 2 ½ cups fruits/vegetables daily. Twenty-four percent were current smokers. Lifestyle risk factors were not different between people who had genetic testing and those who had not. In conclusion, most people who had genetic testing for cancer susceptibility have at least one modifiable risk factor. Genetic counselors have opportunities to impact a counselee’s cancer risk not only through risk-tailored medical procedures, but also through lifestyle modification recommendations. Results of the current study may foster a broader discussion of genetic counselors’ roles in healthy lifestyle education.