“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.     

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.     

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.     

The Life Course Perspective: a Guide for Genetic Counselors

This is the first article in a two part series about utilizing the life course perspective (LCP) in genetic counseling. LCP can be a useful tool for genetic counselors when counseling people with a known genetic mutation. Previous theories such as Protection Motivation Theory (PMT) and Common Sense Model of Self-Regulation (CSMSR) examine current reactions to a positive genetic test result. LCP extends beyond the current time to explore temporal and contextual elements of the experience. A review of research revealed, LCP has been used to study the perspective of caregivers of people with Alzheimer’s disease, referral for a family history of breast cancer, Mexican American caregivers of older adult, social class and cancer incidence and cancer and the sense of mastery. Incorporating LCP into a study explaining the experiences of people living with a positive test result for a genetic mutation such as the BRCA mutation provides a comprehensive exploration of this experience.     

The Quality of Genetic Counseling and Connected Factors as Evaluated by Male BRCA1/2 Mutation Carriers in Finland

There is little written about the quality of genetic counseling for men with the BRCA1/2 mutation. The purpose of this study was to describe the quality of genetic counseling and connected factors according to Finnish male BRCA1/2 mutation carriers’ (n?=?35) perspectives and reasons for seeking genetic counseling. Data were collected from the Departments of Clinical Genetics at five Finnish university hospitals. The exploratory study design was conducted using a 51-item questionnaire based on a previously devised quality of counseling model and analyzed using non-parametric tests and principle content analysis. The satisfaction level with genetic counseling was high, especially with regard to the content of genetic counseling. The benefit of genetic counseling on the quality of life differed significantly (p?<?0.001–0.009) from other factors. In particular, genetic counseling was in some cases associated to reduce the quality of life. Only 49 % of the male carriers felt they received sufficient counseling on social support. Attention to individual psychosocial support was proposed as an improvement to genetic counseling. Primary and secondary reasons for seeking genetic counseling and background information, such as education, affected the perceived quality of genetic counseling. The results of the study could be used to tailor genetic counseling for male BRCA1/2 mutation carriers.     

Performing and Declining PGD: Accounts of Jewish Israeli Women Who Carry a <Emphasis Type="Italic">BRCA1/2</Emphasis> Mutation or Partners of Male Mutation Carriers

To describe factors associated with preimplantation genetic diagnosis (PGD) decisions among Jewish Israeli BRCA1/2 carriers or spouses of a male carrier, we contacted all women who initiated PGD consultation for embryonic BRCA1/2 mutation detection at Sheba Medical Center, prior to March 2014. Applying a qualitative approach, we asked women to elaborate on the factors they considered in either opting for PGD or discontinuing the screening procedure. Participants were 18 Jewish Israeli women; 14 were carriers of one of the Ashkenazi founder mutations in BRCA1/2, and four were spouses of male mutation carriers, who underwent at least one cycle of PGD. Prior to seeking PGD, ten of the women had no children. At the time of the interview, all but three had at least one child. Three factors emerged as key motivators for PGD: having witnessed the disease in a close relative (n = 12); prior IVF treatment for infertility (n = 12); and having pre-existing frozen embryos (n = 6). Ten women withdrew from the PGD process due to clinical, logistical, and financial reasons. In conclusion, most women decided to withdraw from PGD instead of continuing until a successful conception was achieved. Those who opted for PGD attributed their discontinuation of further screening to the emotional burden that is greatly intensified by practical difficulties.     

Uptake of Preimplantation Genetic Diagnosis in Female BRCA1 and BRCA2 Mutation Carriers

Women with a germline pathogenic variant in the BReast CAncer susceptibility genes (BRCA1 or BRCA2) have an increased risk of early-onset breast and ovarian cancer. In addition to weighing cancer screening and risk-reduction options, healthy BRCA mutation carriers of childbearing age may choose to preclude passing the mutation to the next generation. In the current study, we report on preimplantation genetic diagnosis (PGD) practices in BRCA-positive Israeli women who were offered PGD at no cost. Methods: we measured PGD uptake, decision satisfaction or regret, and predictors of uptake. Of the 70 participant female carriers, only 25.7% chose to use PGD to prevent transmission of the mutation, and were not predicted by age or religious affiliation. For those who chose IVF/PGD, satisfaction with the decision regarding IVF and PGD was significantly higher than those who did not have IVF and PGD (p?<?0.04). Experiencing previous infertility was the only significant predictor of uptake of IVF/PGD (p?<?0.001), which may suggest that BRCA status is secondary to infertility in the decision-making process for PGD in women with a BRCA mutation.     

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.     

Utilization of Genetic Testing for <Emphasis Type="Italic">RET</Emphasis> Mutations in Patients with Medullary Thyroid Carcinoma: a Single-Center Experience

Medullary thyroid carcinoma (MTC) is often due to the hereditary condition multiple endocrine neoplasia type 2 (MEN2) and it is standard of care to offer genetic testing to all diagnosed patients. This study used the Kaiser Permanente integrated medical record system to identify patients at risk for MEN2, assess adherence to clinical practice guidelines, and offer genetic counseling and testing. A query of the electronic medical records system identified patients with MTC. All patients with MTC who had not had RET gene testing, as well as patients who had positive RET gene testing, but had not yet had genetic counseling, were contacted and offered a genetics consultation. The query identified 142 patients with MTC. Fifty-six (40%) of those patients had not had the RET testing that all endocrine professional groups recommend. Forty-nine patients were eligible for the outreach, and, from this, 14 patients were scheduled for genetic counseling. Of the 94 individuals at our institution who had RET genetic testing, 25 (27%) were positive for a mutation. Of the 82 apparently sporadic cases, 13 (16%) carried a RET mutation. A family history of endocrine cancer and younger age at diagnosis significantly increased the risk carrying a RET mutation. However, approximately half of RET-positive patients did not have a significant family history of cancer and one-third were over age 50 at diagnosis. This study concludes that a significant proportion of patients with MTC are not receiving standard of care genetic testing and reinforces previous research that sporadic-appearing cases of MTC are often, in fact, hereditary.     

Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit

The identification of patients at risk for breast cancer by genetic testing has proven to reduce breast cancer mortality. In 2010, due to a lack of systematization in hereditary cancer assistance in our center, we implemented a multidisciplinary Heredofamilial Cancer Unit (HFCU). We analyze if the HFCU improved the rates of referrals and preventive management of breast cancer patients with genetic risk. We retrospectively compared family history records, referrals of high-risk patients to genetic counseling, and detection and management of patients with BRCA1/2 mutations in two cohorts of breast cancer patients diagnosed before (first period: 2007–2010) and after the creation of the HFCU (second period: 2010–2013). In the first period, 893 patients were included, and 902 were included in the second. Due to the inability to establish their genetic risk, 142 patients (15.9%) vs. 70 (7.8%) were excluded from analysis (p?<?0.001). Among the evaluable patients, 194 (25.8%) vs. 223 (26.8%) fulfilled one or more risk criteria (p?=?0.65). Family history documentation in patient’s medical records (92.4 vs. 97.8%, p?<?0.001) and referral rate (26.3 vs. 52%, p?<?0.0001) significantly increased in the second period. Eight BRCA1/2 mutations were detected among patients referred in the first period and 17 among those referred to the HFCU. The rate of preventive surgeries in patients with BRCA mutations significantly increased in the second period (25 vs. 76.5%, p?=?0.03). In conclusion, there was a clear improvement in family history records, referrals, and preventive surgeries in breast cancer patients with genetic risk after the implementation of the HFCU.     

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 Am Uncertain About What My Uncertainty Even Is”: Men’s Uncertainty and Information Management of Their BRCA-Related Cancer Risks

Men with a germline pathogenic BRCA1 or BRCA2 variant have increased risks for developing breast, pancreatic, prostate, and melanoma cancers, but little is known about how they understand and manage their cancer risks. This study examines how men with BRCA-related cancer risks manage uncertainty and information about their risks. Twenty-five men who were either a BRCA carrier or have a BRCA-positive first-degree family member that put the participant at 50% chance of also being a BRCA carrier were interviewed for this study. Using uncertainty management theory as a theoretical framework, this study demonstrates that men manage uncertainty by seeking information from female family members, websites, and healthcare providers, and are under-informed about their cancer risks. Further, in handling their information, men prefer information about cancer risk percentages and screening recommendations in the form of lists presented to them via websites, printed literature, proactive healthcare providers, and an identifiable male spokesperson. Finally, men used BRCA-related cancer risk information to make decisions about whether or not to engage in screening and prevention, manage their BRCA-related cancer risks, and overall family well-being—yet often at the expense of their own individual risks. Implications for genetic counseling and family conversations are discussed.     

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.     

Reproductive Endocrinologists’ Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of <Emphasis Type="Italic">BRCA1/2</Emphasis> Mutation Carriers

Genetic counselors believe fertility preservation and preimplantation genetic diagnosis (PGD) discussions to be a part of their role when counseling BRCA1/2 mutation-positive patients. This study is the first to explore reproductive endocrinologists’ (REI) practices and attitudes regarding involvement of genetic counselors in the care of BRCA1/2 mutation carriers seeking fertility preservation and PGD. A survey was mailed to 1000 REIs from Reproductive Endocrinology & Infertility (SREI), an American Society for Reproductive Medicine (ASRM) affiliate group. A 14.5 % response rate was achieved; data was analyzed using SPSS software. The majority of participating REIs were found to recommend genetic counseling to cancer patients considering fertility preservation (82 %) and consult with a genetic counselor regarding PGD for hereditary cancer syndromes (92 %). Additionally, REIs consult genetic counselors regarding PGD patient counseling (88 %), genetic testing (78 %), and general genetics questions (66 %). Two areas genetic counselors may further aid REIs are: elicitation of family history, which is useful to determine fertility preservation and PGD intervention timing (32 % of REIs utilize a cancer family history to determine intervention timing); and, interpretation of variants of uncertain significance (VOUS) as cancer panel genetic testing becomes more common (36 % of REIs are unfamiliar with VOUS). Given our findings, the Oncofertility Consortium® created an online resource for genetic counselors focused on fertility preservation education and communication strategies.     

Impact of Genomic Counseling on Informed Decision-Making among ostensibly Healthy Individuals Seeking Personal Genome Sequencing: the HealthSeq Project

Personal genome sequencing is increasingly utilized by healthy individuals for predispositional screening and other applications. However, little is known about the impact of ‘genomic counseling’ on informed decision-making in this context. Our primary aim was to compare measures of participants’ informed decision-making before and after genomic counseling in the HealthSeq project, a longitudinal cohort study of individuals receiving personal results from whole genome sequencing (WGS). Our secondary aims were to assess the impact of the counseling on WGS knowledge and concerns, and to explore participants’ satisfaction with the counseling. Questionnaires were administered to participants (n = 35) before and after their pre-test genomic counseling appointment. Informed decision-making was measured using the Decisional Conflict Scale (DCS) and the Satisfaction with Decision Scale (SDS). DCS scores decreased after genomic counseling (mean: 11.34 before vs. 5.94 after; z = ?4.34, p < 0.001, r = 0.52), and SDS scores increased (mean: 27.91 vs. 29.06 respectively; z = 2.91, p = 0.004, r = 0.35). Satisfaction with counseling was high (mean (SD) = 26.91 (2.68), on a scale where 6 = low and 30 = high satisfaction). HealthSeq participants felt that their decision regarding receiving personal results from WGS was more informed after genomic counseling. Further research comparing the impact of different genomic counseling models is needed.     

Factors Associated with Interest in Gene-Panel Testing and Risk Communication Preferences in Women from <Emphasis Type="Italic">BRCA1/2</Emphasis> Negative Families

Scientific advances have allowed the development of multiplex gene-panels to assess many genes simultaneously in women who have tested negative for BRCA1/2. We examined correlates of interest in testing for genes that confer modest and moderate breast cancer risk and risk communication preferences for women from BRCA negative families. Female first-degree relatives of breast cancer patients who tested negative for BRCA1/2 mutations (N = 149) completed a survey assessing multiplex genetic testing interest and risk communication preferences. Interest in testing was high (70 %) and even higher if results could guide risk-reducing behavior changes such as taking medications (79 %). Participants preferred to receive genomic risk communications from a variety of sources including: primary care physicians (83 %), genetic counselors (78 %), printed materials (71 %) and the web (60 %). Factors that were independently associated with testing interest were: perceived lifetime risk of developing cancer (odds ratio (OR) = 1.67: 95 % confidence interval (CI) 1.06–2.65) and high cancer worry (OR = 3.12: CI 1.28–7.60). Findings suggest that women from BRCA1/2 negative families are a unique population and may be primed for behavior change. Findings also provide guidance for clinicians who can help develop genomic risk communications, promote informed decision making and customize behavioral interventions.     

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.     

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.     

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.