Human Pedigree Analysis

人类谱系分析

• 批准号: 7695944
• 负责人: Christopher I. Amos
• 金额: $ 10.24万
• 依托单位: UNIVERSITY OF TX MD ANDERSON CAN CTR
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-08-28 至 2013-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7695944
• 关键词: Appointment; Breast; Businesses; Cancer Center; Cancer Center Support Grant; Client; Clinic; Clinical; Clinical Data; Clinical Trials; Collection; Colorectal Cancer; Communication; Communication Methods; Communities; Complex; Computer software; Data; Data Collection; Data Sources; Databases; Development; Disease; Division of Cancer Prevention; Electronics; Environment; Extended Family; Family; Family Study; Family history of; Family member; Focus Groups; Funding; Genetic; Genetic Counseling; Genetic Databases; Genetic Predisposition to Disease; Genetic Research; Genetic screening method; Genotype; Health; Housing; Human; Informatics; Information Services; Information Systems; Inherited; Internet; Laboratories; Link; Maintenance; Malignant Neoplasms; Medical; Medical Records; Methods; Mutation; Online Systems; Ovarian; Patients; Pediatrics; Peer Review; Phase III Clinical Trials; Physicians; Population Study; Predisposition; Prevention; Probability; Process; Production; Professional counselor; Protocols documentation; Questionnaires; Records; Research; Research Infrastructure; Research Personnel; Research Project Grants; Resources; Risk; Risk Assessment; Risk Factors; Schedule; Screening procedure; Secure; Security; Services; Site; Specimen; Standards of Weights and Measures; Structure; System; Time; Update; Visual; Work; advanced system; base; cancer genetics; cancer risk; cancer site; computer program; computerized data processing; data management; database design; desire; digital; firewall; genetic analysis; genetic linkage analysis; genetic pedigree; genome wide association study; improved; migration; programs; sample collection; systems research; tool; trait; web interface

Genetic information has helped researchers and physicians to identify major risk factors for disease and to manage health risks more effectively through improved prevention, screening and family history. The Human Pedigree Analysis Resource (HPAR) designs database tools and methods for the collection and analysis of pedigree data. The HPAR staff consists of the facility director, two Co-Directors, an Informatics Manager, four programmer analysts, a system analyst II and a graduate research assistant. The HPAR database currently supports the Human Clinical Cancer Genetics clinics for breast, ovarian, and colorectal cancers, and provides support to researchers investigating the genetic basis of several other cancer sites. The HPAR has been successful in providing data management support for the collection and analysis of family history information for pedigree data collection, clinical and laboratory tracking information, and laboratory results. During the past 5 years, the HPAR has had 15 users representing 13 CCSG programs, of which 88% are peer-review funded. Long-term objectives are 1) to develop a more advanced genetics database system to extend the HPAR's comprehensive electronic family history information system. This advanced system will include a Web application that allows patients to complete an extended family-history questionnaire prior to their appointment with a genetic counselor. Capturing data before a patient contact will allow genetic counselors to perform automated genetic counseling assessments of the patient's risk for cancer development and the probability of carrying a cancer-susceptibility mutation. 2) To convert the existing SQL server from a two-tier SQL server-based client-server structure to a three-tier structure to make services easily available to other clinicians who need pedigrees drawn from family history information. 3) To develop an in-house interactive computer program for drawing family pedigrees and linking family data gathered for genetics research. This program will be a valuable visual tool for geneticists in identifying clusters of inherited traits and genotypes. Short-term objectives are 1) to avoid duplication of patient data by making informatics tools easily-accessible and to use them to integrate information from different resources (CRIS, CARE, and Clinic Station); 2) to provide analytical support for the application of complex genetic software to identify inherited susceptibility to cancers including application of risk assessment software, linkage analysis and genome-wide association analysis studies.

遗传信息帮助研究人员和医生确定疾病的主要危险因素， 通过改进预防、筛查和家族史，更有效地管理健康风险。人类 系谱分析资源（HPAR）设计了数据库工具和方法，用于收集和分析 谱系数据。HPAR工作人员包括设施主管、两名联合主管、一名信息学经理， 四名程序员分析员、一名二级系统分析员和一名研究生助理。HPAR数据库 目前支持乳腺癌、卵巢癌和结肠直肠癌的人类临床癌症遗传学诊所， 并为研究其他几个癌症部位的遗传基础的研究人员提供支持。HPAR 成功地为家族史的收集和分析提供了数据管理支持 用于谱系数据收集的信息、临床和实验室跟踪信息以及实验室结果。 在过去5年中，HPAR有15个用户，代表13个CCSG项目，其中88%是 同行评审资助。长期目标是：1）开发更先进的遗传学数据库系统， 扩展HPAR的综合电子家族史信息系统。这一先进的系统将 包括一个Web应用程序，允许患者在接受治疗前完成一份扩展的家族史问卷， 和遗传咨询师的预约在患者接触之前获取数据将允许遗传 咨询师对患者的癌症风险进行自动遗传咨询评估 发展和携带癌症易感性突变的可能性。2)转换现有SQL 服务器从基于SQL Server的两层客户端-服务器结构转变为三层服务器结构 容易提供给其他需要从家族史信息中提取谱系的临床医生。3)发展 一个内部的交互式计算机程序，用于绘制家庭谱系，并将收集的家庭数据连接起来， 遗传学研究这个程序将是遗传学家在识别集群的一个有价值的可视化工具， 遗传性状和基因型。短期目标是：1）通过以下方式避免重复患者数据： 信息学工具，并利用这些工具整合来自不同资源的信息（CRIS， CARE和Clinic Station）; 2）为复杂遗传软件的应用提供分析支持， 确定遗传性癌症易感性，包括风险评估软件的应用，连锁分析 和全基因组关联分析研究。