Clinical Outcomes Research, Genetic Epidemiology
Hereditary Breast Cancer and Novel Hispanic BRCA Mutations
We hypothesize that: 1) Using novel high-throughput technologies, a panel that includes the majority of recurrent BRCA mutations found in women of Hispanic ancestry to pre-screen high risk patient samples will demonstrate potential clinical utility and reduce overall genotyping cost, 2) Studying BRCA mutations from a consortium of high-risk clinics serving Hispanic populations, from published literature and public databases, and from additional population-based cohorts will enable relatively comprehensive characterization of the spectrum and prevalence of BRCA mutations associated with breast cancer in Hispanics, and 3) The characterization of the ancestral background of recurrent BRCA mutations will enhance the specificity and predictive value of our Hispanic mutation panel
Communication, Content & Impact of Genetics in Breast Cancer
Young women with breast cancer who carry a BRCA gene mutation are also at high risk for ovarian cancer. Due to inadequate screening and early detection tools, these women are recommended to have their ovaries removed upon completion of childbearing or no later than age 35-40. The purpose of this study, under the direction of Dr. Deborah MacDonald, is to explore psychosocial well-being (PSWB) issues related to this recommendation and facing loss of fertility and early menopause (Phase 1), and to develop and test a needs-based psychoeducational intervention to enhance the lives of ethnically diverse reproductive age BRCA+ women (Phase 2). We hypothesize that: (1) reproductive age BRCA+ women have psychoeducational support needs related to fertility and menopausal issues that can be effectively addressed by the intervention, and (2) that the intervention group will have fewer unmet PSWB needs compared to the control group. We aim to enroll at least 50% Latinas (at least half primarily Spanish-speaking) in each study phase. The study’s Latina bilingual/bicultural team member will allow participation by English or Spanish-speaking Latinas. A needs-oriented, effective, evidence-based, and easily disseminated intervention to promote PSWB in BRCA+ women will help fill a critical untapped gap in cancer prevention and control research that enhances the lives of these women. Findings may ultimately be applied to other breast cancer survivors facing premature loss of fertility or early menopause.
Factors Influencing Communication of Cancer Risk Information to Family Members Among Asian-Americans seen for Genetic Cancer Risk Assessment
Risk communication within families is important in cancer prevention and control yet little is known about the beliefs, practices, and barriers related to this communication among Asian-Americans seen for GCRA. This project, under the direction of Dr. Deborah MacDonald, was conducted to help address this data gap. Participants were Asians referred to our cancer genetic clinics in Southern California. The 298 respondents to our mailed survey represented various Asian ethnic groups, were mostly females (94%), between age 30-60 (83%), married/cohabitating (77%), highly educated (72%), had children (70%), had been diagnosed with breast cancer (78%), and underwent genetic testing (75%; 12% positive for hereditary cancer risk). Of these 298 individuals, 89% indicated that they had a duty to inform their relatives of cancer risk and 78% considered this to be strictly a personal (vs. healthcare provider) duty. Of 123 follow-up respondents, 80% reported informing at least one close relative of cancer risk post-GCRA, primarily sisters and daughters. Barriers to risk communication, primarily concern about upsetting relatives and loss of contact, were reported by 14%. There were no significant differences identified by ethnicity or other demographics or cancer history. These findings suggest that following genetic cancer risk assessment, most Asian-Americans execute their perceived duty to inform relatives of cancer risk with few barriers to this communication.
Community Outreach and Health Services Research
Promoting Participation in Cancer Risk Counseling for Underserved Latinas
The primary purpose of this project is to test the effectiveness of a pre-GCRA (genetic cancer risk assessment) telephone intervention for underserved Latinas at high risk for hereditary breast and ovarian cancer. We seek to determine if the culturally and linguistically appropriate intervention, which incorporates adaptive motivational interviewing (AMI), will improve the uptake, preparedness for, and effectiveness of GCRA with high-risk Latinas. We hypothesize that; 1) Relative to the control group, patients randomized to the AMI pre-GCRA intervention will demonstrate greater GCRA appointment adherence, preparedness, knowledge, and satisfaction with the GCRA consultation process and experience; 2) Relative to the control group, patients randomized to the AMI pre-GCRA intervention will experience a greater reduction in anxiety and increased personal control prior to and after GCRA, and demonstrate greater cancer genetics knowledge after GCRA.
IRIS for BRCA Carriers – Decision Support Tools
The aims of the project are to develop an Individualized Risk Information System (IRIS), composed of a predictive model and the visual display of its output, which will provide female breast cancer patients who have a deleterious BRCA mutation with information regarding the risk of additional primary cancers and outcomes of risk reduction treatment choices and then to pilot use of the Individualized Risk Information System in breast cancer patients undergoing BRCA mutation testing.
Ethical, Legal, and Social Implications in Society
Genetic Discrimination and Access to Cancer Genetics Care
We surveyed non-genetics clinicians to explore the extent to which potential knowledge gaps and/or opinions of cancer genetics, genetic discrimination, and protective laws influences cancer genetics referrals and consequently access to risk-appropriate cancer screening and prevention. Although 96% of responders viewed genetic testing as beneficial to their patients, 75% stated genetic testing is likely to be declined by patients due to fear of genetic discrimination. The majority did not know that federal law (HIPAA) prohibits health insurance discrimination in the group market on the basis of genetic test results (61%) or that California State law prevents genetic information from being used as a criterion for health insurance coverage decisions (67%). Results indicate knowledge gaps and misperceptions as possible barriers to referral for genetic cancer risk assessment. A proposal is pending to develop an education program for clinicians regarding cancer genetics and current, as well as future, genetic discrimination laws may help to promote access to appropriate care.
Education, Community Networks, and the Hereditary Cancer Registry
Community Cancer Genetics and Research Training
The goal of our project is to provide intensive professional training programs in clinical cancer genetics and research collaboration for community-based clinicians. Interest and active participation in the course by clinicians from distinct disciplines, as well as outcomes to date, indicate that the course is a practical, cost-effective and efficacious way to deliver interdisciplinary cancer genetics training and post-course clinical and research support to clinicians practicing cancer genetic in the community setting, where there is defined need for cancer risk assessment services. Web-conference and web board interfaces being refined through the project are being utilized by many of the clinicians trained. On a practical level, numerous course participants joined the City of Hope Hereditary Cancer Registry, creating a broad based high risk clinic research network as a community laboratory for genetic epidemiology and clinical outcomes research.
The Hereditary Cancer Research Registry (Molecular Genetic Studies in Cancer Patients and their Relatives; IRB #96144) is a prospective research registry protocol that was initiated at City of Hope in 1996 as a biospecimen repository with associated personal and family medical history, psycho-social and clinical follow-up data (e.g., screening and risk reduction behavior, risk communication) collection. The CCGCRN is a network of City of Hope-affiliated sites and allows patients with a personal or family history of cancer to participate in cancer genetics research. To date, the study has accrued over 10,000 participants with 4-generation family histories and banked biospecimens (including DNA, cryopreserved lymphocytes and/or lymphoblastoid cell lines, and more recently collections of plasma for proteomic studies; a subset have snap-frozen tumor tissue).