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

基本信息

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
项目类别：
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

项目摘要

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：估计每 190 名女性中就有 1 名携带 BRCA1/2 致病性变异，到 70 岁时，这与 46-57% 的乳腺癌风险和 20-40% 的卵巢癌风险相关。携带者分别占乳腺癌和卵巢癌病例的 10% 和 15%，并且高达 20%。级别浆液性卵巢癌病例，最具侵袭性的亚型。尽管建议所有卵巢癌症病例应接受遗传咨询和检测，无论家族史和发病年龄如何，最近的全国研究表明，只有 10% 的病例接受了基因检测。这代表错过了有机会告知这些妇女及其高危家庭成员未来患癌症的风险。这拟议的研究通过应用回溯测试方法来回顾性地识别这一护理差距先前诊断出患有卵巢癌的女性。然后将为这些女性提供遗传咨询，测试和癌症风险评估。这项研究将利用肿瘤登记处来识别先前的病例过去 10 年内在两个管理式医疗保健系统 (Kaiser 西北永久医疗机构和科罗拉多州凯撒永久医疗机构）。使用存档的病理样本种系基因检测将使在世和已故妇女的家庭成员能够接受家庭遗传检测遗传癌症风险信息。我们将评估：1）使用肿瘤的可行性和相关障碍用于追溯测试方法的登记和存档病理样本； 2）探索道德、隐私、与已故患者基因检测相关的政策影响，以告知家庭风险； 3）描述诊断时接受遗传咨询的障碍，包括转诊的障碍，护理访问和患者随访。我们组建了一支具有专业知识的多学科团队生物伦理学、遗传流行病学、基因组医学、生物统计学、健康传播和医学遗传学。我们将让患者、家庭成员、提供者和卫生系统管理员参与指导研究设计并描述了卵巢癌基因检测的障碍。我们独特的综合健康信息系统、肿瘤登记处和存档的病理标本使我们非常适合研究回溯测试的可行性。生成有关回溯测试可行性的证据使用肿瘤登记和存档的病理样本对于指南的未来至关重要在卵巢癌之外实施此类计划。