Phase II: Rapid Array Diagnosis of Congenital Heart Defects (RAD4CHD) Using Allele Diagnostics Rapid Array Chromosomal Microarray Strategy

II 期：使用等位基因诊断快速阵列染色体微阵列策略对先天性心脏缺陷 (RAD4CHD) 进行快速阵列诊断

• 批准号: 10192813
• 负责人: Beth Torchia
• 金额: $ 76.86万
• 依托单位: ALLELE DIAGNOSTICS, INC.
• 依托单位国家: 美国
• 财政年份: 2019
• 资助国家: 美国
• 起止时间: 2019-03-01 至 2022-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10192813
• 关键词: Accreditation; Address; Algorithms; Alleles; American; Aneuploidy; Anxiety; Automation; Biological Assay; Birth; Cardiac; Chromosome abnormality; Clinical; Clinical Laboratory Improvement Amendments; Complex; Computer software; Congenital Heart Defects; Custom; Data; Databases; Defect; Detection; Development; Diagnosis; Diagnostic; Diagnostic tests; Early Intervention; Education; Exons; Family; Fetus; Fluorescent in Situ Hybridization; Genes; Genetic; Genetic Diseases; Genomics; Group Structure; Guidelines; Hospitals; Incidence; Intervention; Journals; Karyotype; Laboratories; Lesion; Live Birth; Marketing; Maternal-fetal medicine; Medical; Medical Genetics; Methodology; Methods; Microarray Analysis; Neonatal; Newborn Infant; Operative Surgical Procedures; Paper; Pathologist; Patient Care; Patients; Peer Review; Phase; Phenotype; Physicians; Positioning Attribute; Preparation; Publications; Publishing; Rapid diagnostics; Resolution; Running; Sales; Sampling; Secure; Sensitivity and Specificity; Severities; Small Business Innovation Research Grant; Software Tools; Source; Specialist; Specimen; Structural Congenital Anomalies; Target Populations; Techniques; Testing; Time; Validation; Vertebral column; assay development; cohort; college; commercialization; cost; design; experience; follow-up; genetic disorder diagnosis; genetic testing; genomic data; improved; medical schools; neonate; next generation sequencing; novel; phase 1 designs; postnatal; prenatal; product development; rapid diagnosis; rapid test; stillbirth; symposium; tool; webinar; whole genome

Allele Diagnostics Phase II SBIR – Project Summary: Allele Diagnostics is a CLIA-certified, CAP-accredited clinical genetics testing laboratory that was formed in 2014. Our laboratory focuses on both diagnostic testing and product development. We have developed a novel custom-designed, whole genome chromosomal microarray (CMA) which provides results in as little as 2 days in both prenatal and postnatal settings. The successful design and development of this assay, along with our staff's extensive experience in processing and analyzing CMA tests and building custom CMA analysis software solutions, positions us to develop rapid phenotype-specific CMA tests. In Phase I of our project we designed a comprehensive CHD (Congenital Heart Defects) gene-centric CMA test, the Rapid Array Diagnosis for CHD or RAD4CHD, that can detect chromosomal aneuploidies and copy number changes at exon level resolution. The test is intended for patients with CHD diagnosed either prenatally or at birth when a rapid genetic diagnosis is important. The product addresses 4 challenges with current genetic testing methodology: 1) need for rapid results, 2) complexity of genetic testing, 3) high cost, and 4) limitations in resolution. The assay increases the diagnostic yield of currently available rapid first tier testing methods, providing a result in as little as 2 days, reduces testing complexity, and decreases costs. In Phase II of this project, we plan to finalize our RAD4CHD for clinical validation and commercialization. This includes: 1) refining our CMA probe design 2) upgrading our software analysis tools and genomic databases; 3) evaluating and implementing laboratory automation techniques; 4) validating the RAD4CHD as a clinical assay; and 5) running a large cohort of samples with CHD indications to evaluate the incremental diagnostic yield of the RAD4CHD compared to standard CMA tests. Our plan for commercialization will include publishing the results of the diagnostic yield study and marketing our product nationally to those physicians who care for patients with CHD, including neonatologists, geneticists, cardiologists, and maternal-fetal medicine specialists. The test will be marketed through multiple distribution channels including a direct sales approach and selling through strategic partners.

等位基因诊断II期SBIR - 项目摘要： 等位基因诊断是一个经过CLIA认证的，具有CAP认可的临床遗传学测试实验室 2014年。我们的实验室侧重于诊断测试和产品开发。我们已经开发了一本小说 定制设计的整个基因组染色体微阵列（CMA），可提供至2天的结果 在产前和产后设置中。该测定法的成功设计和开发以及我们的 员工在处理和分析CMA测试和构建自定义CMA分析方面的丰富经验 软件解决方案，使我们定位以开发快速表型特异性CMA测试。 在我们项目的第一阶段，我们设计了一个以基因为中心CMA的全面冠心病（先天性心脏缺陷） 测试是CHD或RAD4CHD的快速阵列诊断，可以检测到染色体非整倍性并复制 外显子水平分辨率的数字变化。该测试旨在针对CHD诊断患者 快速遗传诊断至关重要时，在产前或出生时。该产品解决了4个挑战 当前的基因检测方法：1）需要快速结果，2）基因检测的复杂性，3）高成本， 4）解决方案的限制。该测定增加了当前可用快速第一层的诊断产量 测试方法仅在2天内提供结果，可降低测试复杂性，并降低成本。在 该项目的第二阶段，我们计划最终确定RAD4CHD以进行临床验证和商业化。这 包括：1）完善我们的CMA探针设计2）升级我们的软件分析工具和基因组数据库； 3）评估和实施实验室自动化技术； 4）将RAD4CHD验证为临床 测定； 5）运行大量具有CHD指示的样本来评估增量诊断 与标准CMA测试相比，RAD4CHD的产量。 我们的商业化计划将包括发布诊断产量研究的结果和 全国范围 遗传学家，心脏病学家和母亲医学专家。该测试将通过多个 分销渠道，包括直接销售方法和通过战略合作伙伴进行销售。