Experiences of genetic counselors in referring young and metastatic breast cancer patients to support services: A needs assessment.

OBJECTIVE: Conduct a needs assessment to explore the experiences, barriers, and needs of genetic counselors (GCs), who counsel and refer young and metastatic breast cancer (BC) patients to support services, in order to develop resources to address any noticeable gaps. METHODS: GCs providing care to BC patients were eligible to complete the survey. Support services were defined as resources to address patient-centered healthcare, emotional, and quality-of-life needs. RESULTS: Most participants (n = 117) reported familiarity with cancer prevention services (93%); fewer were familiar with services secondary to a BC diagnosis (e.g., fatigue=16% and sexual health=24%). The volume of GCs indicating familiarity with support services increased significantly as work experience increased for seven services. Many (>50%) never referred patients to most (9/12) support services, excluding cancer prevention, mental health, and financial issues. Open-ended responses highlighted that GCs considered referrals to be outside their scope of practice or that healthcare systems prevent GCs from making referrals. CONCLUSION: GCs may benefit from curated resources and materials, especially for support services secondary to a BC diagnosis, to better support their patients. PRACTICAL IMPLICATIONS: Collaboration of GCs with other health professionals through integrative care programs may decrease burdens to accessing support services.

Accuracy of Perceived Breast Cancer Risk in Black and White Women with an Elevated Risk.

Introduction: Perceived breast cancer risk predicts screening behaviors. However, perceived risk is often inaccurate, notably in Black women, who often underestimate their risk despite having higher disease-specific mortality rates. We examined predictors of perceived breast cancer risk, and its impact on surveillance. Methods: We used baseline data from a randomized trial targeting unaffected women recruited by relatives with early-onset breast cancer. Data collection occurred between 2012 and 2013. Accuracy of perceived risk was assessed by comparing perceived risk to objective lifetime breast cancer risks, calculated with the Gail and Claus models. A multivariate mixed model regression examined predictors of accuracy of perceived risk. The impact of perceived risk on breast cancer surveillance was assessed with one-way ANOVAS comparing Black to White women. Results: Among participants, 21.4% self-identified as Black and 78.6% as White. Overall, 72.9% (n=247/339), 16.2% (n=55/339), and 10.9% (n=37/339) of participants overestimated, accurately perceived, and underestimated, respectively, their lifetime breast cancer risk. Race did not predict the accuracy of risk perception. Younger participants were more likely to overestimate their risk (ß=-.455; CI [-.772, -.138]; P=.005). MRI utilization was predicted by a higher objective risk (F 1,263 [= 30.271]; P<.001) and more accurate risk perception (P=.010; Fisher's exact test). Conclusions: Most women with a family history of early-onset breast cancer inaccurately perceived their risk for developing the disease. Younger women were more likely to overestimate their risk. Findings can guide the development of tailored interventions to improve adherence to breast cancer surveillance recommendations.

Genetic Literacy and Communication of Genetic Information in Families Concerned with Hereditary Breast and Ovarian Cancer: A Cross-Study Comparison in Two Countries and within a Timeframe of More Than 10 Years.

Examining genetic literacy in families concerned with hereditary breast and ovarian cancer (HBOC) helps understand how genetic information is passed on from individuals who had genetic counseling to their at-risk relatives. This cross-study comparison explored genetic literacy both at the individual and the family level using data collected from three sequential studies conducted in the U.S. and Switzerland over ≥10 years. Participants were primarily females, at-risk or confirmed carriers of HBOC-associated pathogenic variants, who had genetic counselling, and ≥1 of their relatives who did not. Fifteen items assessed genetic literacy. Among 1933 individuals from 518 families, 38.5% had genetic counselling and 61.5% did not. Although genetic literacy was higher among participants who had counselling, some risk factors were poorly understood. At the individual level, genetic literacy was associated with having counselling, ≤5 years ago, higher education, and family history of cancer. At the family level, genetic literacy was associated with having counselling, higher education, and a cancer diagnosis. The findings suggest that specific genetic information should be emphasized during consultations, and that at-risk relatives feel less informed about inherited cancer risk, even if information is shared within families. There is a need to increase access to genetic information among at-risk individuals.

Genetic Testing and Surveillance of Young Breast Cancer Survivors and Blood Relatives: A Cluster Randomized Trial.

We compared a tailored and a targeted intervention designed to increase genetic testing, clinical breast exam (CBE), and mammography in young breast cancer survivors (YBCS) (diagnosed <45 years old) and their blood relatives. A two-arm cluster randomized trial recruited a random sample of YBCS from the Michigan cancer registry and up to two of their blood relatives. Participants were stratified according to race and randomly assigned as family units to the tailored (n = 637) or the targeted (n = 595) intervention. Approximately 40% of participants were Black. Based on intention-to-treat analyses, YBCS in the tailored arm reported higher self-efficacy for genetic services (p = 0.0205) at 8-months follow-up. Genetic testing increased approximately 5% for YBCS in the tailored and the targeted arm (p ≤ 0.001; p < 0.001) and for Black and White/Other YBCS (p < 0.001; p < 0.001). CBEs and mammograms increased significantly in both arms, 5% for YBCS and 10% for relatives and were similar for Blacks and White/Others. YBCS and relatives needing less support from providers reported significantly higher self-efficacy and intention for genetic testing and surveillance. Black participants reported significantly higher satisfaction and acceptability. Effects of these two low-resource interventions were comparable to previous studies. Materials are suitable for Black women at risk for hereditary breast/ovarian cancer (HBOC).

Disparities in genetic services utilization in a random sample of young breast cancer survivors.

PURPOSE: Increasing use of genetic services (counseling/testing) among young breast cancer survivors (YBCS) can help decrease breast cancer incidence and mortality. The study examined use of genetic services between Black and White/Other YBCS, attitudes and knowledge of breast cancer risk factors, and reasons for disparities in using genetic services. METHODS: We used baseline data from a randomized control trial including a population-based, stratified random sample of 3000 potentially eligible YBCS, with oversampling of Black YBCS. RESULTS: Among 883 YBCS (353 Black, 530 White/Other) were significant disparities between the two racial groups. More White/Other YBCS had received genetic counseling and had genetic testing than Blacks. Although White/Other YBCS resided farther away from board-certified genetic counseling centers, they had fewer barriers to access these services. Black race, high out-of-pocket costs, older age, and more years since diagnosis were negatively associated with use of genetic services. Black YBCS had lower knowledge of breast cancer risk factors. Higher education and genetic counseling were associated with higher genetic knowledge. CONCLUSION: Racial inequalities of cost-related access to care and education create disparities in genetic services utilization. System-based interventions that reduce socioeconomic disparities and empower YBCS with genetic knowledge, as well as physician referrals, can increase access to genetic services.

Surveillance for cancer recurrence in long-term young breast cancer survivors randomly selected from a statewide cancer registry.

PURPOSE: This study examined clinical breast exam (CBE) and mammography surveillance in long-term young breast cancer survivors (YBCS) and identified barriers and facilitators to cancer surveillance practices. METHODS: Data collected with a self-administered survey from a statewide, randomly selected sample of YBCS diagnosed with invasive breast cancer or ductal carcinoma in situ younger than 45 years old, stratified by race (Black vs. White/Other). Multivariate logistic regression models identified predictors of annual CBEs and mammograms. RESULTS: Among 859 YBCS (n = 340 Black; n = 519 White/Other; mean age = 51.0 ± 5.9; diagnosed 11.0 ± 4.0 years ago), the majority (> 85%) reported an annual CBE and a mammogram. Black YBCS in the study were more likely to report lower rates of annual mammography and more barriers accessing care compared to White/Other YBCS. Having a routine source of care, confidence to use healthcare services, perceived expectations from family members and healthcare providers to engage in cancer surveillance, and motivation to comply with these expectations were significant predictors of having annual CBEs and annual mammograms. Cost-related lack of access to care was a significant barrier to annual mammograms. CONCLUSIONS: Routine source of post-treatment care facilitated breast cancer surveillance above national average rates. Persistent disparities regarding access to mammography surveillance were identified for Black YBCS, primarily due to lack of access to routine source of care and high out-of-pocket costs. IMPLICATIONS: Public health action targeting cancer surveillance in YBCS should ensure routine source of post-treatment care and address cost-related barriers. Clinical Trials Registration Number: NCT01612338.

Large, Prospective Analysis of the Reasons Patients Do Not Pursue BRCA Genetic Testing Following Genetic Counseling.

Genetic counseling (GC) and genetic testing (GT) identifies high-risk individuals who benefit from enhanced medical management. Not all individuals undergo GT following GC and understanding the reasons why can impact clinical efficiency, reduce GT costs through appropriate identification of high-risk individuals, and demonstrate the value of pre-GT GC. A collaborative project sponsored by the Michigan Department of Health and Human Services prospectively collects anonymous data on BRCA-related GC visits performed by providers in Michigan, including demographics, patient/family cancer history, GT results, and reasons for declining GT. From 2008 to 2012, 10,726 patients underwent GC; 3476 (32.4%) did not pursue GT. Primary reasons included: not the best test candidate (28.1%), not clinically indicated (23.3%), and insurance/out of pocket cost concerns (13.6%). Patient disinterest was the primary reason for declining in 17.1%. Insurance/out of pocket cost concerns were the primary reason for not testing in 13.4% of untested individuals with private insurance. Among untested individuals with breast and/or ovarian cancer, 22.5% reported insurance/out of pocket cost concerns as the primary reason for not testing and 6.6% failed to meet Medicare criteria. In a five-year time period, nearly one-third of patients who underwent BRCA GC did not pursue GT. GT was not indicated in almost half of patients. Insurance/out of pocket cost concerns continue to be barriers.

CDC Grand Rounds: Family History and Genomics as Tools for Cancer Prevention and Control.

Although many efforts in cancer prevention and control have routinely focused on behavioral risk factors, such as tobacco use, or on the early detection of cancer, such as colorectal cancer screening, advances in genetic testing have created new opportunities for cancer prevention through evaluation of family history and identification of cancer-causing inherited mutations. Through the collection and evaluation of a family cancer history by a trained health care provider, patients and families at increased risk for a hereditary cancer syndrome can be identified, referred for genetic counseling and testing, and make informed decisions about options for cancer risk reduction (1). Although hereditary cancers make up a small proportion of all cancers, the number of affected persons can be large, and the level of risk among affected persons is high. Two hereditary cancer syndromes for which public health professionals have worked to reduce the burden of morbidity and mortality are hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome.

Public Health Approaches and Barriers to Educating Providers about Hereditary Breast and Ovarian Cancer Syndrome.

The Michigan Department of Health and Human Services implemented and evaluated two initiatives designed to enhance provider knowledge of patients appropriate for breast and/or ovarian cancer genetic risk assessment and hereditary breast and ovarian cancer (HBOC) syndrome testing. The first initiative targeted select providers who had diagnosed patients meeting HBOC risk criteria. Specifically, the initiative used 2008-2009 state cancer registry data to identify all providers who had diagnosed breast cancers in women ≤50 years of age, male breast cancers, and ovarian cancers in four health systems with newly established cancer genetics clinics. Using a method coined bidirectional reporting (BDR), reports highlighting how many of these cases each provider had seen were generated and mailed. Reports on 475 cancers (9.5% of the 5005 cases statewide meeting criteria) were sent to 69 providers with information about how and why to refer such patients for genetic counseling. Providers who received a report were contacted to assess whether the reports increased awareness or resulted in action (genetic counseling/referral). Based on the few responses received, despite multiple attempts to contact, and attrition rate, it is not possible to ascertain the impact of this initiative on providers. However the project resulted in the MDHHS identifying which providers see the largest proportion of at-risk patients, creating an opportunity to target those providers with HBOC education efforts. The second initiative involved creating and broadly disseminating an online, interactive case-based educational module to increase awareness and referral decisions for HBOC using high- and low-risk patient scenarios. A total of 1835 unique users accessed the module in a one year. Collectively the users viewed topic pages 2724 times and the interactive case studies 1369 times. Point of care tools (fact sheets) were viewed 1624 times and downloaded 764 times. Satisfaction among the subset of users applying for continuing medical education credit was high. The online educational module had a much broader reach than the bidirectional reporting initiative but to a self-selected audience. Combining targeted and broad-based provider education efforts may be a better way to increase HBOC awareness in the target audience, starting with those providers seeing the largest proportion of patients at risk.

Use of Cancer Genetics Services in African-American Young Breast Cancer Survivors.

INTRODUCTION: African-American women have higher rates of early-onset breast cancer compared with their Caucasian counterparts; yet, when diagnosed with breast cancer at a young age, they underuse genetic counseling and testing to manage their risk of developing future cancers. METHODS: Self-reported baseline data were collected between September 2012 and January 2013 and analyzed in 2014 from a subpopulation of 340 African-American young breast cancer survivors (YBCSs) enrolled in an RCT. YBCSs were diagnosed with invasive breast cancer or ductal carcinoma in situ between ages 20 and 45 years and were randomly selected from a statewide cancer registry. Logistic regression examined predictors of using cancer genetics services. RESULTS: Overall, 28% of the sample reported having genetic counseling and 21% reported having genetic testing, which were significantly lower (p≤0.005) compared with white/other YBCSs participating in the parent study. In a multivariate analysis, income was positively associated with counseling (B=0.254, p≤0.01) and testing (B=0.297, p≤0.01), whereas higher education levels (B=-0.328, p≤0.05) and lack of access to healthcare services owing to cost (B=-1.10, p≤0.03) were negatively associated with genetic counseling. Lower income and lack of care because of high out-of-pocket costs were commonly reported barriers. CONCLUSIONS: Despite national recommendations for genetic evaluation among women with early-onset breast cancer, few African-American YBCSs reported undergoing genetic counseling and testing. Most reported that their healthcare provider did not recommend these services. Interventions addressing patient, provider, and structural healthcare system barriers to using genetic counseling and testing in this population are needed.

The Activities and Impact of State Programs to Address Hereditary Breast and Ovarian Cancer, 2011-2014.

In 2011, the Division of Cancer Prevention and Control (DCPC), at the United States Centers for Disease Control and Prevention (CDC), released a three-year funding opportunity announcement (FOA) for a competitive, non-research cooperative agreement. The agreement enhanced the capacities of state health departments to promote the application of best practices for evidence-based breast cancer genomics through education, surveillance, and policy activities. The FOA required that applicants focus on activities related to hereditary breast and ovarian cancer (HBOC). The DCPC funded three states: Georgia, Michigan, and Oregon. Georgia was a first-time recipient of cancer genomics funding, whereas Michigan and Oregon had long standing activities in cancer genomics and had received CDC funding in the past. By the end of the funding period, each state had well-functioning and impactful state-based programs in breast cancer genomics. This article highlights the impact of a few key state activities by using CDC's Science Impact Framework. There were challenges to implementing public health genomics programs, including the need to develop relevant partnerships, the highly technical nature of the subject matter, a lack of genetic services in certain areas, and the difficulty in funding genetic services. Georgia, Michigan, and Oregon have served as models for others interested in initiating or expanding cancer genomics programs, and they helped to determine what works well for promoting and integrating public health genomics into existing systems.

To reflex or not: additional BRCA1/2 testing in Ashkenazi Jewish individuals without founder mutations.

This study determined the prevalence of non-Ashkenazi Jewish BRCA1/2 mutations in the Ashkenazi Jewish population in the state of Michigan, current provider testing practices, and the use of mutation probability models in determining which Ashkenazi Jewish individuals should be offered further analysis following negative BRCA1/2 founder testing. Testing patterns, mutation probabilities, and testing results were assessed for 327 Ashkenazi Jewish individuals seen for BRCA1/2 counseling in the state of Michigan who underwent testing for the Ashkenazi Jewish founder mutations. Only one (0.6 %) Ashkenazi Jewish individual with sequencing after negative founder analysis was found to have a non-founder mutation; no rearrangements were identified. Testing patterns varied by clinic, with the proportion of Ashkenazi Jewish individuals undergoing additional sequencing ranging from 22.2 to 92.9 %. In Ashkenazi Jewish individuals with a pre-test BRCAPRO risk calculation, the mean risk was significantly higher in those with follow-up sequencing compared to those who did not pursue additional testing. The low prevalence of non-founder BRCA1/2 mutations in Ashkenazi Jewish individuals does not warrant automatically reflexing to full analysis after negative mutation testing. Increased use of mutation probability models may aid in determining which cases warrant additional testing.

Strategies, actions, and outcomes of pilot state programs in public health genomics, 2003-2008.

State health departments in Michigan, Minnesota, Oregon, and Utah explored the use of genomic information, including family health history, in chronic disease prevention programs. To support these explorations, the Office of Public Health Genomics at the Centers for Disease Control and Prevention provided cooperative agreement funds from 2003 through 2008. The 4 states' chronic disease programs identified advocates, formed partnerships, and assessed public data; they integrated genomics into existing state plans for genetics and chronic disease prevention; they developed projects focused on prevention of asthma, cancer, cardiovascular disease, diabetes, and other chronic conditions; and they created educational curricula and materials for health workers, policymakers, and the public. Each state's program was different because of the need to adapt to existing culture, infrastructure, and resources, yet all were able to enhance their chronic disease prevention programs with the use of family health history, a low-tech "genomic tool." Additional states are drawing on the experience of these 4 states to develop their own approaches.

Using a state cancer registry to recruit young breast cancer survivors and high-risk relatives: protocol of a randomized trial testing the efficacy of a targeted versus a tailored intervention to increase breast cancer screening.

BACKGROUND: The Michigan Prevention Research Center, the University of Michigan Schools of Nursing, Public Health, and Medicine, and the Michigan Department of Community Health propose a multidisciplinary academic-clinical practice three-year project to increase breast cancer screening among young breast cancer survivors and their cancer-free female relatives at greatest risk for breast cancer. METHODS/DESIGN: The study has three specific aims: 1) Identify and survey 3,000 young breast cancer survivors (diagnosed at 20-45 years old) regarding their breast cancer screening utilization. 2) Identify and survey survivors' high-risk relatives regarding their breast cancer screening utilization. 3) Test two versions (Targeted vs. Enhanced Tailored) of an intervention to increase breast cancer screening among survivors and relatives. Following approval by human subjects review boards, 3,000 young breast cancer survivors will be identified through the Michigan Cancer Registry and mailed an invitation letter and a baseline survey. The baseline survey will obtain information on the survivors': a) current breast cancer screening status and use of genetic counseling; b) perceived barriers and facilitators to screening; c) family health history. Based on the family history information provided by survivors, we will identify up to two high-risk relatives per survivor. Young breast cancer survivors will be mailed consent forms and baseline surveys to distribute to their selected high-risk relatives. Relatives' baseline survey will obtain information on their: a) current breast cancer screening status and use of genetic counseling; and b) perceived barriers and facilitators to screening. Young breast cancer survivors and high-risk relatives will be randomized as a family unit to receive two versions of an intervention aiming to increase breast cancer screening and use of cancer genetic services. A follow-up survey will be mailed 9 months after the intervention to survivors and high-risk relatives to evaluate the efficacy of each intervention version on: a) use of breast cancer screening and genetic counseling; b) perceived barriers and facilitators to screening; c) self-efficacy in utilizing cancer genetic and screening services; d) family support related to screening; e) knowledge of breast cancer genetics; and f) satisfaction with the intervention. DISCUSSION: The study will enhance efforts of the state of Michigan surrounding cancer prevention, control, and public health genomics.

Evaluation of state comprehensive cancer control plans for genomics content.

INTRODUCTION: Comprehensive Cancer Control (CCC) plans address cancer burden at the state level through consolidation of activities and collaboration among stakeholders. Public health genomics strategies are increasingly important in prevention and treatment of cancer. The objectives of this study were to assess the extent to which CCC plans have incorporated genomics-related terms since 2005, determine which of the 3 core public health functions were fulfilled by genomics components, and identify facilitators of and barriers to integration of genomics. METHODS: We reviewed 50 CCC plans in 2010 to assess use of 22 genomics-related terms. Among plans that used the term genetics or genomics, we examined the plan for inclusion of genomics-related goals, objectives, or strategies and documented the 3 core public health functions (assessment, policy development, and assurance) fulfilled by them. We surveyed plan coordinators about factors affecting incorporation of genomic strategies into plans. RESULTS: Forty-seven of 50 (94%) plans included at least 1 genomics-related term. Thirty-two of 50 (64%) plans included at least 1 genomics-related goal, objective, or strategy, most encompassing the core function of assurance; 6 state plans encompassed all 3 core functions. Plan coordinators indicated that genomics is a low priority in state public health; barriers to incorporation included lack of sufficient staff and funding. CONCLUSION: Incorporation of genomic terms into state CCC plans increased from 60% in 2005 to 94% in 2010, but according to plan coordinators, genomics has not grown as a priority. Identification of partnerships and resources may help increase the priority, encourage incorporation, and guide the eventual success of public health genomics in state plans. Strong partnerships with state public health departments, health care providers, and the research community are useful for integration.

Barriers and facilitators for utilization of genetic counseling and risk assessment services in young female breast cancer survivors.

Introduction. Women diagnosed with breast cancer at a young age are more likely to carry a cancer predisposing genetic mutation. Per the current NCCN recommendations, women diagnosed under age 50 should be referred to cancer genetic counseling for further risk evaluation. This study seeks to assess patient-reported barriers and facilitators to receiving genetic counseling and risk assessment among a community-based population of young breast cancer survivors (YBCS). Methods. Through the Michigan Cancer Surveillance Program, a state-based cancer registry, 488 women diagnosed with breast cancer before age 50 in 2006-2007 were identified. They received a mail survey regarding family history and facilitators and barriers to receiving genetic counseling and risk assessment. Results. Responses were received from 289 women (59.2%). One hundred twenty-two (42.2%) reported having received cancer genetic counseling. The most frequent reason identified for receiving services was to benefit their family's future. The top reasons for not attending were "no one recommended it" and "medical insurance coverage issues." Discussion. This study is the first published report using a state cancer registry to determine facilitators and barriers to receiving genetic counseling and risk assessment among YBCS. These findings demonstrate the need for additional awareness and education about appropriate indications for genetic services.

Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting.

Lynch syndrome is the most common cause of inherited colorectal cancer, accounting for approximately 3% of all colorectal cancer cases in the United States. In 2009, an evidence-based review process conducted by the independent Evaluation of Genomic Applications in Practice and Prevention Working Group resulted in a recommendation to offer genetic testing for Lynch syndrome to all individuals with newly diagnosed colorectal cancer, with the intent of reducing morbidity and mortality in family members. To explore issues surrounding implementation of this recommendation, the Centers for Disease Control and Prevention convened a multidisciplinary working group meeting in September 2010. This article reviews background information regarding screening for Lynch syndrome and summarizes existing clinical paradigms, potential implementation strategies, and conclusions which emerged from the meeting. It was recognized that widespread implementation will present substantial challenges, and additional data from pilot studies will be needed. However, evidence of feasibility and population health benefits and the advantages of considering a public health approach were acknowledged. Lynch syndrome can potentially serve as a model to facilitate the development and implementation of population-level programs for evidence-based genomic medicine applications involving follow-up testing of at-risk relatives. Such endeavors will require multilevel and multidisciplinary approaches building on collaborative public health and clinical partnerships.