Clinical Characterization and Risk Profile of Individuals Seeking Genetic Counseling for Hereditary Breast Cancer in Brazil

Hereditary breast cancer (HBC) accounts for 5–10% of breast cancer cases and it significantly increases the lifetime risk of cancer. Our objective was to evaluate the sociodemographic variables, family history of cancer, breast cancer (BC) screening practices and the risk profile of cancer affected or asymptomatic at-risk women that undergo genetic counseling for hereditary breast cancer in public Brazilian cancer genetics services. Estimated lifetime risk of BC was calculated for asymptomatic women using the Gail and Claus models. The majority of women showed a moderate lifetime risk of developing BC, with an average risk of 19.7% and 19.9% by the Gail and Claus models, respectively. The average prior probability of carrying a BRCA1/2 gene mutation was 16.7% and overall only 32% fulfilled criteria for a hereditary breast cancer syndrome as assessed by family history. We conclude that a significant number of individuals at high-risk for HBC syndromes may not have access to the benefits of cancer genetic counseling in these centers. Contributing factors may include insufficient training of healthcare professionals, disinformation of cancer patients; difficult access to genetic testing and/or resistance in seeking such services. The identification and understanding of these barriers is essential to develop specific strategies to effectively achieve cancer risk reduction in this and other countries were clinical cancer genetics is not yet fully established.     

An Investigation of Genetic Counselors’ Testing Recommendations: Pedigree Analysis and the Use of Multiplex Breast Cancer Panel Testing

Genetic testing recommendations for hereditary breast and ovarian cancer involve pedigree analysis and consultation of testing guidelines. The testing landscape for hereditary cancer syndromes is shifting as multiplex panel tests become more widely integrated into clinical practice. The purpose of the current study was to assess how genetic counselors utilize pedigrees to make recommendations for genetic testing, to determine consistency of these recommendations with National Comprehensive Cancer Network (NCCN) Guidelines and to explore current use of multiplex panel testing. Sixty-nine genetic counselors were recruited through the National Society of Genetic Counselors Cancer Special Interest Group’s Discussion Forum. Participation involved pedigree analysis and completion of an online questionnaire assessing testing recommendations and use of multiplex panel testing. Pedigree analysis and test recommendations were scored for consistency with NCCN guidelines. The average score was 12.83/15 indicating strong consistency with NCCN guidelines. Participants were more likely to consider multiplex testing when pedigrees demonstrated highly penetrant dominant inheritance but were not indicative of a particular syndrome. Participant concerns about multiplex panel testing include limited guidelines for both testing eligibility and medical management. This study demonstrates high utilization of pedigree analysis and raises new questions about its use in multiplex genetic testing.     

“The Cancer Bond”: Exploring the Formation of Cancer Risk Perception in Families with Lynch Syndrome

This study explores the social context of hereditary cancer risk perception in three families, an African-American family, a Mexican-American family, and a Caucasian family, each with Lynch Syndrome documented by a mismatch repair gene mutation. Communication network assessments measured family communication about cancer experiences and genetic testing information among a total of 26 participants. Participant narratives were evaluated to gain insight into how family cancer experiences and genetic testing information have shaped perceptions of cancer risk. Analysis of communication networks indicated that some families discussed cancer experiences to a greater extent than genetic testing information, and vice-versa. Interviews elucidated that sharing both types of health information led participants to conceptualize linkages among a strong family history of cancer, genetic testing information, and cancer prevention strategies. Understanding how different types of family communication influence the formation of perceived hereditary disease risk may enhance efforts to tailor genetic counseling services for families.     

A Collaborative Approach to Genetic Testing: A Community Hospital’s Experience

The field of cancer genetics is evolving rapidly, and much has changed over the past ten years in the way services are being provided and by whom they are being provided. We recount here our experience with the evolution of cancer genetic services in a community setting, focusing on collaboration with non-genetics providers to offer genetic testing for hereditary cancer. This approach allows for the most effective use of genetic counselors’ expertise for challenging cases, and enables the patient to remain within their community to allow for better access to resources for long-term follow-up.     

Aligning Policy to Promote Cascade Genetic Screening for Prevention and Early Diagnosis of Heritable Diseases

Cascade genetic screening is a methodology for identifying and testing close blood relatives of individuals at increased risk for heritable conditions and follows a sequential process, minimizing testing costs and the number of family members who need to be tested. It offers considerable potential for cost savings and increased awareness of heritable conditions within families. CDC-classified Tier 1 genomic applications for hereditary breast and ovarian cancer syndrome (HBOC), Lynch Syndrome (LS), and familial hypercholesterolemia (FH) are recommended for clinical use and support the use of cascade genetic screening. Most individuals are unaware of their increased risk for heritable conditions such as HBOC, LS, and FH. Consistent implementation of cascade genetic screening could significantly increase awareness and prevention of heritable conditions. Limitations to effective implementation of cascade genetic screening include: insufficient genetic risk assessment and knowledge by a majority of healthcare providers without genetics credentials; a shortage of genetic specialists, especially in rural areas; a low rate of reimbursement for comprehensive genetic counseling services; and an individual focus on prevention by clinical guidelines and insurance coverage. The family-centric approach of cascade genetic screening improves prevention and early diagnosis of heritable diseases on a population health level. Cascade genetic screening could be better supported and augmented through changes in health policy.     

Delivering Genetic Education and Genetic Counseling for Rare Diseases in Rural Brazil

Brazil is the largest country in Latin America, with an ethnically diverse, Portuguese-speaking and predominantly Roman Catholic population of some 194 million. Universal health care is provided under the Federal Unified Health System (Sistema Único de Saúde) but, as in many other middle and low income countries, access to medical genetics services is limited in rural and remote regions of the country. Since there is no formally recognized Genetic Counseling profession, genetic counseling is provided by physicians, trained either in medical genetics or a related clinical discipline. A comprehensive medical genetics program has been established in Monte Santo, an inland rural community located in the state of Bahia in Northeast Brazil, with high prevalences of a number of autosomal recessive genetic disorders, including non-syndromic deafness, phenyketonuria, congenital hypothyroidism and mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Genetic education, counseling and treatment are locally provided, with a neonatal screening program for MPSVI currently under trial.     

Crossing the Border: Latino Attitudes Toward Immigration Policy

In the midst of the ongoing and highly polarized immigration debate, it seems that little attention has been paid to how Latinos view efforts to address the issues of undocumented immigrants residing in the United States and enhanced enforcement efforts along the U.S.–Mexico border. Consequently, questions arise as to the degree of support for or rejection of such measures within the Latino community and among the various segments of that community. Do U.S.-born Latinos, foreign-born naturalized citizens, and undocumented immigrants from various parts of Latin America have similar or divergent views on these issues? It is generally assumed that ethnicity is an important factor in influencing attitudes toward immigrants and immigration policies. Some studies have found that foreign-born Latinos have more positive attitudes toward immigration than native-born Latinos due in part to their shared immigration experience. There are, however, other studies demonstrating that Latino immigrants have often expressed support for more restrictive immigration policies. It may hold true, in fact, that many Latinos have ambiguous and conflicting attitudes about these issues. This article will try to shed some light on Latinos’ attitudes regarding specific policy measures by analyzing data from the Pew Hispanic Center National Survey of Latinos, which allows for considerable differentiation among various sectors of the Latino population.     

Genetic Counseling Considerations in the Evaluation of Families for Lynch Syndrome��A Review

Lynch syndrome is the most common hereditary colorectal cancer syndrome and the most common cause of hereditary endometrial cancer. Identifying and evaluating families for Lynch syndrome is increasing in complexity due to the recognition that: family history-based clinical criteria lack sensitivity and specificity; genetic testing for Lynch syndrome continues to evolve as understanding of the molecular mechanisms underlying it evolves; and the Lynch syndrome phenotype encompasses multiple organ systems and demonstrates overlap with other hereditary cancer syndromes. This document is a summary of considerations when evaluating individuals and families for Lynch syndrome, including information on cancer risks, diagnostic criteria, tumor and genetic testing strategies, and the management of individuals with this condition.     

Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors

These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Cancer Genetic Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Key components include the intake (medical and family histories), psychosocial assessment (assessment of risk perception), cancer risk assessment (determination and communication of risk), molecular testing for hereditary cancer syndromes (regulations, informed consent, and counseling process), and follow-up considerations. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.     

Provider Perspectives about Latino Patients: Determinants of Care and Implications for Treatment

Primary care settings are the gateway through which the majority of Latinos access care for their physical and mental health concerns. This study explored the perspectives of primary care providers regarding their Latino patients, particularly, issues impacting their patients' access to and utilization of services. Interviews were conducted with eight primary care providers-and analyzed using consensual qualitative research methods. In addition, observations were conducted of the primary care setting to contextualize providers' perspectives. Providers indicated that care for Latinos was impacted by several domains: (a) practical/instrumental factors that influence access to care; (b) cultural and personal factors that shape patients' presentations and views about physical and mental health and treatment practices; (c) provider cultural competence; and (d) institutional factors which highlight the context of care. In addition to recommendations for research and practice, the need for interdisciplinary collaboration between psychology and medicine in reducing ethnic minority disparities was proposed.     

High-Risk Palliative Care Patients’ Knowledge and Attitudes about Hereditary Cancer Testing and DNA Banking

Even at the end of life, testing cancer patients for inherited susceptibility may provide life-saving information to their relatives. Prior research suggests palliative care inpatients have suboptimal understanding of genetic importance, and testing may be underutilized in this clinical setting. These conclusions are based on limited research. This study aimed to estimate genetic testing prevalence among high-risk palliative care patients in a National Cancer Institute-designated comprehensive cancer center. We also aimed to understand these patients’ understanding of, and attitudes toward, hereditary cancer testing and DNA banking. Palliative care in-patients with cancer completed structured interviews, and their medical records were reviewed. Among patients at high risk for hereditary cancer, we assessed history of genetic testing/DNA banking; and related knowledge and attitudes. Among 24 high-risk patients, 14 (58.3%) said they/their relatives had genetic testing or they had been referred for a genetics consultation. Of the remaining 10 patients, seven (70%) said they would “probably” or “definitely” get tested. Patients who had not had testing were least concerned about the impact of future testing on their family relationships; two (20%) said they were “extremely concerned” about privacy related to genetic testing. Of patients without prior testing, five (50%) said they had heard or read “a fair amount” about genetic testing. No high-risk patients had banked DNA. Overall, 23 (95.8%) said they had heard or read “almost nothing” or “relatively little” about DNA banking. Written materials and clinician discussion were most preferred ways to learn about genetic testing and DNA banking. Overall, this study demonstrates underutilization of genetics services at the end of life continues to be problematic, despite high patient interest.     

African American Women’s Limited Knowledge and Experiences with Genetic Counseling for Hereditary Breast Cancer

Genetic counseling and testing for hereditary breast cancer have the potential benefit of early detection and early interventions in African American women. However, African American women have low use of these services compared to White women. We conducted two focus groups with African American women diagnosed with breast cancer (affected group, n?=?13) and women with at least one first-degree relative with breast/ovarian cancer (unaffected group, n?=?8). A content analysis approach was employed to analyze interview data. Breast cancer survivors had more knowledge about genetic counseling and testing than participants who were unaffected with cancer. However, knowledge about genetic counseling was limited in both groups. Barriers to pursuing genetic counseling and testing included poor understanding of the genetic counseling and testing process, fear of carrying the mutation, concerns about discrimination, and cost. Motivators to participate in genetic counseling and testing included desire to help family members, insurance coverage, and potential of benefiting the larger African American community. Education efforts are needed to increase genetic counseling and testing awareness in the African American community.     

Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors

Updated from their original publication in 2004, these cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of counseling at-risk individuals through genetic cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Familial Cancer Risk Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Essential components include the intake, cancer risk assessment, genetic testing for an inherited cancer syndrome, informed consent, disclosure of genetic test results, and psychosocial assessment. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.     

Information Mismatch: Cancer Risk Counseling with Diverse Underserved Patients

As genetics and genomics become part of mainstream Medicine, these advances have the potential to reduce or exacerbate health disparities. Gaps in effective communication (where all parties share the same meaning) are widely recognized as a major contributor to health disparities. The purpose of this study was to examine GC-patient communication in real time, to assess its effectiveness from the patient perspective, and then to pilot intervention strategies to improve the communication. We observed 64 English-, 35 Spanish- and 25 Chinese-speaking (n = 124) public hospital patients and 10 GCs in 170 GC appointments, and interviewed 49 patients who were offered testing using the audio recordings to stimulate recall and probe specific aspects of the communication. Data analyses were conducted using grounded theory methods and revealed a fundamental mismatch between the information provided by GCs and the information desired and meaningful to patients. Several components of the communication that contributed to this mismatch and often resulted in ineffective communication included: (1) too much information; (2) complex terminology and conceptually difficult presentation of information; (3) information perceived as not relevant by the patient; (4) unintentional inhibition of patient engagement and question-asking; (5) vague discussions of screening and prevention recommendations. Our findings indicate a need to transform the standard model of genetic counseling communication using evidence-based principles and strategies from other fields of Medicine. The high rates of limited health literacy in the US, increasing access of diverse populations to genetic services, and growing complexity of genetic information have created a perfect storm. If not directly addressed, this convergence is likely to exacerbate health disparities in the genomic age.     

Pediatric Predispositional Genetic Risk Communication: Potential Utility for Prevention and Control of Melanoma Risk as an Exemplar

Predispositional genetic testing among minor children is intensely debated due to the potential benefits and harms of providing this type of genetic information to children and their families. Existing guidelines on pediatric genetic testing state that predispositional testing could be appropriate for minors if preventive services exist that mitigate children’s risk for or severity of the health condition in question. We use the example of hereditary melanoma to illustrate the rationale for and potential application of genetic risk communication for an adult-onset cancer to a pediatric population where childhood behaviors may reduce risk of disease later in life. We draw from the adult melanoma genetic risk communication and pediatric health behavior change literatures to suggest ways in which genetic test reporting and complementary education could be delivered to children who carry a hereditary risk for melanoma and their families in order to foster children’s engagement in melanoma preventive behaviors. Genetic discoveries will continue to yield new opportunities to provide predispositional genetic risk information to unaffected individuals, including children, and could be delivered within programs that provide personalized and translational approaches to cancer prevention.     

Finding a Balance: Reconciling the Needs of the Institution,Patient, and Genetic Counselor for Optimal Resource Utilization

The current practice of cancer genetic counseling is undergoing widespread change and scrutiny. While there are clinical resources for genetic counselors (GCs) regarding the delivery of cancer genetic services, there is limited literature regarding effective management of a genetic counseling clinical program. We have developed administrative tools to manage a large team of GCs at a single academic medical center over a period of increasing demand for genetics services, with the initial aim of decreasing wait time for urgent genetic counseling visits. Here, we describe the three main elements of the clinical operations: Balancing patient volume between GCs, scheduling tracks for both routine and urgent appointments, and a team of triaging GCs to ensure appropriate patient referrals. For each of these elements, we describe how they have been modified over time and present data to support the utility of these strategies. The preliminary evidence offered here suggests that these tools allow for an equitable distribution of patient volume between team members, as well as the timely and accurate scheduling of urgent patients. As a result of the experiences presented here, other genetic counseling programs grappling with similar issues should be aware that it is possible to shift clinical operations to serve certain patient populations in a more timely fashion while keeping both providers and GC staff satisfied.     

Family history in ovarian cancer referral population

In order to determine the incidence of familial and hereditary ovarian cancer in a referral patient population, we conducted a retrospective study of 44 patients from a consecutive set of 62 patients treated for ovarian carcinoma at the Gynecologic Oncology Clinic at the Richland Memorial Hospital Center for Cancer Treatment and Research between January 1, 1993 and December 31, 1993. In our study of the referred patients, only two (4.55%) reported a history of at least one first-degree relative also being affected with ovarian cancer. However, 13 patients (29.55%) reported a family history consistent with one of the hereditary ovarian cancer syndromes. In addition to having a suggestive family history, these 13 families demonstrated several cardinal features of hereditary cancer syndromes including early onset, bilaterality, multiple primary tumors, and transmission. Race was the only significantly different demographic factor between the hereditary and sporadic ovarian cancer groups. All 13 patients who appeared to have a hereditary form of cancer were Caucasian.     

Exploring Hereditary Cancer Among Dying Cancer Patients—A Cross-Sectional Study of Hereditary Risk and Perceived Awareness of DNA Testing and Banking

Hereditary cancer assessment at the end of life is a relatively unexplored area, but it could be critical for surviving family members. This study explored the prevalence of hereditary cancer among dying cancer patients and assessed patients’ perceived awareness of DNA testing and/or banking in a public access hospital. Palliative care patients with cancer from a single institution (or their medical-decision-making surrogates for patients unable to answer for themselves) completed structured interviews. Information was collected through medical records review and structured interviews for 43 dying cancer patients. Information for 9 patients was collected from surrogates. Nine patients (21%, 95% CI?=?8.8% to 33.1%) had strong genetic risk. Currently available genetic tests could have addressed this risk for several patients. None had previous genetic counseling, testing or DNA banking. Among strong-risk patients, about half of patients/surrogates had heard/read “almost nothing” about genetic testing (44%) and DNA banking (67%). Perceived genetic awareness was not associated with genetic risk, and neither were sociodemographic characteristics. The proportion of hereditary cancer may be at least as high in the palliative care population as in other clinical settings, but awareness and uptake among patients are low. These conditions are not being recognized upstream and families are losing valuable information.     

If We Build It … Will They Come? – Establishing a Cancer Genetics Services Clinic for an Underserved Predominantly Latina Cohort

Background: Cancer genetic counseling and testing is a standard of care option for appropriate families and can identify individuals at increased risk prior to diagnosis, when prevention or detection strategies are most effective. Despite documented efficacy of cancer risk reduction in high-risk individuals, underserved and minority individuals have a disproportionate cancer burden and limited access to genetic counseling. Methods: A needs assessment survey documented gaps in knowledge and interest in prevention. Satellite clinics were established at two indigent healthcare systems. Cancer genetics CME lectures were conducted and referral guidelines disseminated to clinicians who referred patients for counseling. Results: An increase in clinician knowledge was demonstrated post-CME and reflected by quality referrals. Eighty-eight percent of patients kept their appointments. In the predominantly Latina⁶ (n=77) clinic population, 71.4% were affected with cancer, and 17 mutation positive families were identified. Preliminary data shows a positive impact on patients' motivation and behavior. The majority has expressed satisfaction and reduction in anxiety. Conclusions: This study demonstrates feasibility and acceptability of cancer genetics services in this population, suggesting the potential to reduce cancer morbidity in underserved, high-risk families.“Latino” is the most common census term for individuals of Spanish, Mexican, Central and South American, Cuban, or Puerto Rican descent, referring to ethnicity, and is generally considered a more ethnically/culturally based term for individuals of the aforementioned groups. As this cohort is female the feminine noun “Latina” is used