Leveraging tumor registries and pathology specimens to facilitate genetic testing and traceback for ovarian cancer

利用肿瘤登记和病理标本促进卵巢癌的基因检测和追溯

• 批准号: 10579877
• 负责人: Jessica Ezzell Hunter
• 金额: $ 55.83万
• 依托单位: KAISER FOUNDATION RESEARCH INSTITUTE
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-03-01 至 2025-02-28
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10579877
• 关键词: Address; Administrator; Age; Archives; Bioethics; Biometry; Breast Cancer Risk Factor; Cancer-Predisposing Gene; Caring; Characteristics; Clinical; Collaborations; Colorado; Communication; Computerized Medical Record; Diagnosis; Early identification; Ethics; Family; Family history of; Family member; Funding; Future; General Population; Genetic Counseling; Genetic Risk; Genomic medicine; Guidelines; Health Information System; Health Services Accessibility; Health protection; Health system; Healthcare Systems; Hereditary Malignant Neoplasm; Hereditary Neoplastic Syndromes; High-Risk Cancer; Improve Access; Intervention; Interview; Laws; Legal; Malignant Neoplasms; Malignant neoplasm of ovary; Managed Care; Medical Genetics; Methods; National Comprehensive Cancer Network; Operative Surgical Procedures; Pathogenicity; Pathology; Pathway interactions; Patients; Policies; Population Heterogeneity; Populations at Risk; Privacy; Provider; Recommendation; Recording of previous events; Relative Risks; Research; Research Design; Risk; Risk Assessment; Risk Reduction; Sampling; Serous; Site; Specimen; Structure; Testing; Time; Tissues; Tumor Pathology; United States National Institutes of Health; Update; Variant; Woman; brca gene; cancer diagnosis; cancer genetics; cancer risk; ethical, legal, and social implication; follow-up; future implementation; genetic epidemiology; genetic testing; health assessment; health communication; health management; high risk; legal implication; malignant breast neoplasm; multidisciplinary; novel strategies; patient engagement; policy implication; programs; success; tissue archive; tumor registry; uptake

PROJECT SUMMARY/ABSTRACT: An estimated 1 in 190 women carry a pathogenic variant in BRCA1/2, which is associated with an 46-57% risk of breast cancer and 20-40% risk of ovarian cancer by age 70. Carriers account for 10% and 15% of breast and ovarian cancer cases, respectively, and up to 20% of high- grade serous ovarian cancer cases, the most aggressive subtype. Despite recommendations that all ovarian cancer cases should receive genetic counseling and testing, irrespective of family history and age at onset, a recent national study indicated that only 10% of cases underwent genetic testing. This represents a missed opportunity to inform these women and their at-risk family members about their future cancer risk. The proposed study addresses this care gap by applying a traceback testing approach to retrospectively identify women who have a prior diagnosis of ovarian cancer. These women will then be offered genetic counseling, testing, and cancer risk assessment. This study will leverage tumor registries to identify prior cases of ovarian cancer diagnosed within the past 10 years at two managed care healthcare systems (Kaiser Permanente Northwest and Kaiser Permanente Colorado). The use of archived pathology samples for germline genetic testing will allow family members of both living and deceased women to receive familial genetic cancer risk information. We will assess: 1) the feasibility of and barriers associated with using tumor registries and archived pathology samples for a traceback testing approach; 2) explore the ethical, privacy, and policy implications associated with genetic testing in deceased patients to inform familial risk; 3) characterize barriers to receiving genetic counseling at the time of diagnosis, including barriers to referral, care access, and patient follow-up to. We have assembled a multidisciplinary team with expertise in bioethics, genetic epidemiology, genomic medicine, biostatistics, health communication, and medical genetics. We will engage patients, family members, providers, and health system administrators to guide study design and characterize barriers to genetic testing in ovarian cancer. Our unique integrated health information systems, tumor registries, and archived pathology specimens make us ideally suited to investigate the feasibility of traceback testing. Generating evidence on the feasibility of traceback testing using tumor registries and archived pathology samples is critically important to the guide future implementation of such programs beyond ovarian cancer.

项目摘要/摘要：据估计，每190名女性中就有1名携带BRCA1/2致病性变异基因。