Genome Sequence-Based Screening for Childhood Risk and Newborn Illness

基于基因组序列的儿童期风险和新生儿疾病筛查

• 批准号: 9350376
• 负责人: ALAN H. BEGGS
• 金额: $ 118.72万
• 依托单位: BRIGHAM AND WOMEN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2013
• 资助国家: 美国
• 起止时间: 2013-09-05 至 2019-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9350376
• 关键词: Base Sequence; Behavior; Birth; Boston; CLIA certified; Caring; Childhood; Clinical; Clinical Trials; Diagnosis; Enrollment; Family; Future; Genetic; Genome; Genomics; Health Care Costs; Hospitals; Infant Care; Medical; Medicine; Methods; Monitor; Motivation; Neonatal Screening; Newborn Infant; Onset of illness; Parents; Pediatric Hospitals; Physicians; Process; Protocols documentation; Randomized; Reporting; Resources; Risk; Testing; Woman; clinical care; clinical practice; genomic data; infancy; multidisciplinary; novel; pediatrician; preference; screening; standard of care

DESCRIPTION (provided by applicant): This highly collaborative multi-disciplinary initiative will test the feasibility and impact on physicians and parents of genomic sequencing in the newborn period to assess future risk of childhood onset disease, as well as to guide diagnosis and treatment of sick newborns. A pipeline and process will be developed for reporting results of genomic sequencing to neonatologists and pediatricians, and a pilot clinical trial will be conducted to explore the impact of delivering genomic sequencing results in the newborn period. To evaluate the use of genomic screening in healthy newborns, 240 newborn infants and their parents will be enrolled shortly after birth at Brigham and Women's Hospital. To evaluate the use of early genomic screening as a resource for clinicians caring for infants who are ill, 240 newborns from the NICU at Boston Children's Hospital will be enrolled along with their parents. The trial will randomize these 480 newborns to receive either 1) clinically meaningful information derived from genomic sequencing and current newborn screening or 2) only current newborn screening as standard of care. Project 1 will rapidly sequence, analyze arid interpret genomic sequencing in a CLIA-approved pipeline and deliver an understandable and useful report to the family and pediatric care team of newborns in both groups. Project 2 will enroll newborns and their parents into the protocol, provide a team of genetics experts as a resource for families and pediatricians, and safely monitor the use of genomic information in clinical practice. Project 3 will examine preferences and motivations of enrolled parents, evaluate the flow and utilization of genomic information within clinical interactions and assess understanding, behavior, medical consequences and healthcare costs associated with the use of genomic sequencing in newborns.

这项高度合作的多学科计划将测试新生儿期基因组测序的可行性及其对医生和父母的影响，以评估儿童期发病疾病的未来风险，并指导患病新生儿的诊断和治疗。将开发一个管道和流程，向儿科医生和儿科医生报告基因组测序结果，并将进行一项试点临床试验，以探索在新生儿期提供基因组测序结果的影响。为了评估基因组筛查在健康新生儿中的应用，240名新生儿及其父母将在出生后不久在布里格姆妇女医院登记。为了评估早期基因组筛查作为临床医生护理患病婴儿的资源的使用，波士顿儿童医院NICU的240名新生儿将与他们的父母一起沿着。该试验将对这480名新生儿进行随机分组，以接受1）来自基因组测序和当前新生儿筛查的有临床意义的信息，或2）仅当前新生儿筛查作为标准治疗。项目1将在CLIA批准的管道中快速测序，分析和解释基因组测序，并向两组新生儿的家庭和儿科护理团队提供可理解和有用的报告。项目2将把新生儿及其父母纳入方案，为家庭和儿科医生提供一个遗传学专家团队作为资源，并安全地监测基因组信息在临床实践中的使用。项目3将检查注册父母的偏好和动机，评估基因组信息在临床相互作用中的流动和利用，并评估与新生儿基因组测序相关的理解，行为，医疗后果和医疗保健成本。