InheRET: A SaaS solution to identify patients at increased risk for hereditary disease.

InheRET：一种 SaaS 解决方案，用于识别遗传性疾病风险增加的患者。

基本信息

批准号：
10260583
负责人：
David Freeman Keren
金额：
$ 99.57万
依托单位：
INHERET, INC
依托单位国家：
美国
项目类别：
财政年份：
2019
资助国家：
美国
起止时间：
2019-05-01 至 2023-02-28
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10260583
关键词：
Amendment Appointment Cancer-Predisposing Gene Caring Clinic Clinical Collection Communication Communities Complex Computer software Counseling DNA Sequence Alteration Data Databases Decision Making Development Devices Disease Early Diagnosis Education Electronic Health Record Ensure Evaluation Family Family history of Gene Mutation Genetic Genetic Counseling Genetic Risk Genetic Screening Goals Guidelines Health Personnel Health Services Accessibility Health system Healthcare Hereditary Disease Heritability Hospitals Improve Access Individual Inherited Insurance Insurance Coverage Intervention Letters Licensing Link Malignant Neoplasms Medical Medical Records Morbidity - disease rate National Comprehensive Cancer Network Oncologist Oncology Operative Surgical Procedures Outcome Output Patient Education Patient risk Patients Persons Phase Physicians Pilot Projects Population Practice Guidelines Predisposition Prevention Prevention education Preventive care Primary Health Care Process Provider Recommendation Recording of previous events Reporting Risk Risk Management Risk Reduction Route Site System Test Result Testing Time Update Work base cancer diagnosis cancer health disparity cancer risk care providers cognitive computing cognitive testing commercial application commercialization computer generated computerized data processing disorder risk genetic counselor genetic testing hereditary risk in silico individualized medicine mortality neoplastic personalized management programs screening screening guidelines standard of care success support tools technological innovation tool web-enabled

项目摘要

PROJECT SUMMARY This project is to expand the InheRET Inherited Risk Evaluation Tool to include recommendations for testing of patients at increased risk for hereditary disease, adding patient navigation features and customizable database entries for healthcare providers. This will include the development, integration and testing of InheRET 3.0 followed by pilot testing in 5 diverse clinics. InheRET's aim is to quickly and easily identify individuals at increased risk for hereditary diseases enabling them to access downstream care, reducing morbidity and mortality. InheRET's unique features reduces clinical ascertainment barriers, streamlines workflows and enhances profitability within health systems. The aims for this project are to complete in silico (computer generated) testing of the cognitive computing engine of InheRET followed retrospective testing and finally, pilot testing in a variety of clinical settings to determine if any additional changes are needed to the product prior to commercialization. In addition, we will expand the integration of the InheRET program with an EPIC electronic health record system, providing hard and/or soft alerts for providers as patient reports become available. Success will be determined if we achieve 100% concordance with the in silico testing (i.e. the cognitive computing engine functions correctly), 98% concordance with clinical determinations in the clinical pilot testing, and 100% concordance in the integration testing (all patient reports are appropriately and seamlessly routed to the proper medical records). Our primary objective is to produce an accurate, easy-to-use and understandable report to ensure patients who may unknowingly harbor inherited genetic mutations are identified, thereby enabling them to access genetic counselors and testing along with appropriate downstream care. While both patient and physician reports are provided, the physician reports will be enhanced by providing recommended genes for testing with streamlined ordering processes. By doing so, patients can reduce their risk of disease, receive tailored treatment if they incur disease, and reduce overall mortality.

项目概要该项目旨在扩展 InheRET 遗传风险评估工具，以包括以下方面的测试建议：遗传性疾病风险增加的患者，添加患者导航功能和可定制的数据库医疗保健提供者的条目。这将包括 InheRET 3.0 的开发、集成和测试随后在 5 个不同的诊所进行了试点测试。 InheRET 的目标是快速、轻松地识别个人遗传性疾病的风险增加，使他们能够获得下游护理，降低发病率和死亡。 InheRET 的独特功能减少了临床确定障碍，简化了工作流程并提高卫生系统内的盈利能力。该项目的目标是在硅片（计算机 InheRET 认知计算引擎的测试遵循回顾性测试，最后进行试点在各种临床环境中进行测试，以确定在使用之前是否需要对产品进行任何额外的更改商业化。此外，我们将扩大 InheRET 项目与 EPIC 电子的集成健康记录系统，在患者报告可用时为提供者提供硬和/或软警报。如果我们与计算机测试（即认知测试）达到 100% 的一致性，则确定成功。计算引擎功能正常），与临床试点测试中的临床测定符合 98%，集成测试 100% 一致性（所有患者报告均适当且无缝地发送至正确的医疗记录）。我们的主要目标是生成准确、易于使用且易于理解的报告，以确保患者谁可能在不知不觉中携带遗传性基因突变被识别出来，从而使他们能够获得遗传咨询和检测以及适当的下游护理。虽然患者和医生提供报告后，将通过提供推荐基因进行测试来增强医生报告简化的订购流程。通过这样做，患者可以降低患病风险，接受量身定制的治疗如果他们患病，则进行治疗，并降低总体死亡率。

项目成果

期刊论文数量（1）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Implementation of INHERET, an Online Family History and Cancer Risk Interpretation Program for Primary Care and Specialty Clinics.

实施 INHERET，这是一项针对初级保健和专科诊所的在线家族史和癌症风险解释计划。

DOI：
10.6004/jnccn.2021.7072
发表时间：
2022
期刊：
Journal of the National Comprehensive Cancer Network : JNCCN
影响因子：
0
作者：
McCain,LynnA;Milliron,KaraJ;Cook,AmandaM;Paquette,Robert;Parvaz,JasmineB;Ernst,SusanD;Kittendorf,AnneL;Harper,DianeM;Zazove,Philip;Arthurs,Jim;Tippie,JerryA;Hulswit,Bailey;Schroeder,LeeF;Keren,DavidF;Merajver,SofiaD
通讯作者：
Merajver,SofiaD