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、实施和测试一个基于计算机的工作站 协助临床遗传学家完成与患者咨询的任务 关于遗传性疾病。 拟议的工具将帮助 顾问收集有关顾问及其家人的相关数据， 根据公认的概率原则解释这些数据 分析，并使用来自相关信息的数据库 遗传学文献，将咨询工作重点放在帮助 患者做出困难且有价值的决定，以帮助产生 准确且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丰富的谱系数据 为以后的研究提供输入的会议。 已经开发并开始测试原型程序 通过图形界面捕获家族谱系并计算 单基因座孟德尔疾病的基因型概率，我们提出 将其扩展以处理出现的广泛遗传问题 临床实践。 一些所需的扩展包括能够 要处理一个位点上两个以上的等位基因，请结合其他证据 比表型和家族结构进入概率计算， 允许分析多位点连锁，特别是利用 RFLP 数据的可用性不断增加，以允许使用不同的先验 基于种族的不同个体的基因频率 背景，并纳入年龄相关的外显率模型。 我们也 计划允许该程序帮助辅导员确定可能性 特定谱系中的各种遗传模式。 此外，我们 计划将程序的输入和输出能力扩展到 生成适当的屏幕和打印报告，并接受 以灵活的方式收集信息，以鼓励捕获已经 可用的遗传数据。 我们将在遗传学系测试该程序的可用性 哈佛社区健康计划，然后评估其效用 帮助遗传咨询师进行咨询。 我们还将开发 该程序的有限版本，仅包含一个遗传模型 家族性乳腺癌并在中进行此版本的早期测试 与纪念斯隆凯特琳癌症中心合作。