CLINICAL GENETICIST'S WORKSTATION

临床遗传学家工作站

• 批准号: 3374316
• 负责人: PETER SZOLOVITS
• 金额: $ 23.9万
• 依托单位: MASSACHUSETTS INSTITUTE OF TECHNOLOGY
• 依托单位国家: 美国
• 财政年份: 1993
• 资助国家: 美国
• 起止时间: 1993-09-30 至 1996-09-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3374316
• 关键词: computer assisted diagnosis; computer assisted medical decision making; computer system design /evaluation; family genetics; genetic counseling; genetic disorder diagnosis; genetic models; human data; information systems; linkage mapping; restriction fragment length polymorphism

We propose to design, implement and test a computer-based workstation to assist clinical geneticists in their tasks of consulting with patients concerning genetically-based diseases. The proposed tool will help the counselor to collect relevant data about the consultant and his family, to interpret those data according to accepted principles of probabilistic analysis, and, using a data base of relevant information from the genetics literature, to focus counseling effort toward helping the patient make difficult and value-laden decisions, to help produce accurate and informative reports and records, and to help organize and aggregate the wealth of pedigree data collected during counseling sessions for input into later research studies. Having already developed and begun to test a prototype program that captures family pedigrees via a graphical interface and calculates genotype probabilities for single-locus Mendelian disorders, we propose to extend it to deal with the wide range of genetic issues that arise in clinical practice. Some of the required extensions include being able to handle more than two alleles at a site, incorporate evidence other than phenotype and family structure into the probabilistic calculations, allow the analysis of multi-locus linkage, especially to exploit the growing availability of RFLP data, to allow the use of different a priori gene frequencies for different individuals based on their ethnic background, and to incorporate age-dependent penetrance models. We also plan to allow the program to help the counselor determine the likelihood of various inheritance patterns in a specific pedigree. In addition, we plan to extend the input and output capabilities of the program to produce appropriate on-screen and printed reports, and to accept information in flexible ways to encourage the capture of already- available genetic data. We will test the usability of the program at the Genetics Department of the Harvard Community Health Plan, and later assess its utility for helping genetic counselors perform consultations. We will also develop a limited version of the program that contains only a genetic model for familial breast cancer and perform early tests of this version in collaboration with Memorial Sloan Kettering Cancer Center.

我们建议设计，实施和测试基于计算机的工作站 协助临床遗传学家与患者进行咨询的任务 关于基于遗传的疾病。 提出的工具将帮助 辅导员收集有关顾问及其家人的相关数据， 根据公认的概率原则来解释这些数据 分析，并使用来自相关信息的数据库 遗传学文献，集中精力努力帮助 患者做出困难和有价值的决定，以帮助产生 准确，信息丰富的报告和记录，并帮助组织和 汇总咨询期间收集的谱系数据 将课程投入到以后的研究中。 已经开发并开始测试一个原型程序 通过图形接口捕获家庭血统并计算 单位元素孟德尔疾病的基因型概率，我们提出 扩展它以应对在 临床实践。 一些必需的扩展包括能够 要在一个站点处理两个以上的等位基因，请包含其他证据 比表型和家庭结构中的概率计算， 允许分析多级别链接，尤其是为了利用 RFLP数据的可用性不断增长，以允许使用不同的先验 基于不同个体的基因频率 背景，并结合年龄依赖性的外渗模型。 我们也是 计划允许该计划帮助辅导员确定可能性 特定血统中的各种遗传模式。 另外，我们 计划将程序的输入和输出功能扩展到 制作适当的屏幕和印刷报告，并接受 以灵活的方式提供信息，以鼓励已经捕获 可用的遗传数据。 我们将在遗传部门测试该计划的可用性 哈佛社区卫生计划，后来评估其效用 帮助遗传顾问进行咨询。 我们还将发展 该程序的有限版本仅包含一个遗传模型 家族性乳腺癌并对此版本进行早期测试 与纪念Sloan Kettering癌症中心合作。