Genomic Sequencing for Childhood Risk and Newborn Illness (The BabySeq Project)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 1,205
- 试验地点
- 4
- 主要终点
- Parents' Relationship
研究概览
简要总结
The Genomic Sequencing for Childhood Risk and Newborn Illness (the BabySeq Project) is a research study exploring the use of genomic sequencing in newborns. The National Institutes of Health is funding this study.
The investigators will enroll 240 healthy infants and their parents from the Brigham and Women's Hospital (BWH) Well Newborn Nursery and 240 sick infants and their parents at Boston Children's Hospital (BCH) or the BWH Neonatal Intensive Care Unit (NICU). A small blood sample will be collected from each infant and genome sequencing may be performed. Six weeks later, results are returned and explained. Over 12 months the investigators are studying the experiences of parents and pediatricians of infants who receive sequencing to help understand how best to use genomics in pediatric care.
详细描述
The objective of this research protocol is to conduct a randomized clinical trial to assess the benefits and risks of adding the information from a genomic sequencing report to physician-mediated medical care of newborns during their pediatric years.
The investigators will enroll 240 healthy infants and their parents from the Brigham and Women's Hospital (BWH) Well Newborn Nursery and 240 sick infants and their parents at Boston Children's Hospital (BCH) or the BWH Neonatal Intensive Care Unit (NICU).
A small blood sample will be obtained from each enrolled infant. Samples will be collected from all infants enrolled, regardless of the arm to which they are assigned, in order to follow the same protocol for all subjects prior to randomization.
Infants within each cohort will be randomized (1:1) to either standard-of-care (family history and standard newborn screening report) or to standard-of-care plus genomic sequencing.
A study physician and genetic counselor will disclose the infant's randomization assignment and study results during an in-person consultation with each family. The study physician and genetic counselor will provide the consultation to families utilizing all available medical information. In the sequencing arm of the study, this will include the medical history, physical exam, family history, standard newborn screening (NBS) report and sequencing report(s). In the non-sequencing arm of the study, this will include the medical history, physical exam, family history and standard NBS report.
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Other
- 盲法
- Single (Participant)
盲法说明
Families are masked to randomization until disclosure sessions
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Infants admitted to BCH or the BWH NICU
- •At least one biological parent is physically available to have genetic counseling, donate DNA, and provide consent for testing the infant. If the second biological parent is known but not physically present, the second biological parent must be available to have genetic counseling by phone, return a signed consent form by mail, and donate DNA via a mailed saliva kit. If there is a "rearing parent" (an individual who is not biologically related to the infant, but who is dedicated to raising the child), that individual must also provide consent but will not be asked to submit a saliva sample.
- •Mother (either biological or rearing) carried the pregnancy
排除标准
- •Parents are non-English speaking
- •Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician
- •Mother or father younger than 18 years of age
- •Mother or father with impaired decisional capacity
- •Age of infant is older than 30 days
- •One of a multiple gestation
- •Any infant in which clinical considerations preclude drawing 1.0 ml of blood
- •Hospital admission expected to be less than 72 hours
- •Missing consent of either biological parent (if known) or rearing parent (if applicable)
- •Previously performed exome/genome sequencing on patient
结局指标
主要结局
Parents' Relationship
时间窗: From baseline through 10 post-disclosure, with time points varying by measure. Post-disclosure approx. 5 months after baseline; 3-months approx. 8 months after baseline; 10-months approx. 15 months after baseline.
Parents' Relationship was assessed using validated and novel measures of marital satisfaction using the Relationship satisfaction per the Kansas Marital Satisfaction Scale (3 months; scores ranging from 3 to 15), relationship conflict per a novel item (all time points; scores ranging from 1 to 5), and partner blame per a novel item (3 months and 10 months; scores ranging from 1 to 5). Higher scores on Satisfaction indicates more Satisfaction. Higher scores on Conflict and Blame indicate higher conflict and blame.
Downstream Health Care Utilization Attributable to BabySeq Project Disclosure
时间窗: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
Per-patient means (SDs) for healthcare costs (in U.S. dollars) after disclosure of randomization status / genomic results from the BabySeq project. Services were identified through a combination of chart note review, medical record review and participant surveys.
Downstream Health Care Utilization Attributable to BabySeq Project Disclosure: Number of ER Visits
时间窗: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
Per-patient counts number of ER visits. Services were identified through a combination of chart note review, medical record review and participant surveys.
Downstream Health Care Costs Attributable to BabySeq Project Disclosure: Days of Inpatient Care
时间窗: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline).
Days spent in inpatient care from disclosure of randomization status / genomic sequencing results through 10 months post-disclosure. Services were identified through a combination of chart note review, medical record review and participant surveys.
Parent-Child Relationship
时间窗: From baseline through 10 post-disclosure, with time points varying by measure. (Post-disclosure approx. 5 months after baseline; 3-months approx. 8 months after baseline; 10-months approx. 15 months after baseline)
Parent-Child Relationship was assessed using validated scales measuring parents' perceptions of parenting stress (General parenting stress per the Parenting Stress Index™, 4th Edition Short Form (10 months); scores range from 36 to 180), how vulnerable they perceive their child to be (Parents' perception of baby's vulnerability per the Vulnerable Baby Scale (baseline, postdisclosure, 3 months, 10 months); scores range from 4 to 20), and how they are bonding with their child (Parent-child bonding per the Mother-to-Infant Bonding Scale (baseline, postdisclosure, 3 months, 10 months); scores range from 0 to 24). Lower bonding scores indicate more problems with bonding. For other measures, higher scores indicate higher stress and perceptions of vulnerability.
Downstream Health Care Utilization Attributable to BabySeq Project Disclosure: Number of Health Care Provider Visits
时间窗: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
Per-patient counts for number of health care provider visits. Services were identified through a combination of chart note review, medical record review and participant surveys.
Downstream Health Care Utilization Attributable to BabySeq Project Disclosure: Number of Current Medications at 10 Months
时间窗: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
Per-patient counts for number of current medications at 10 months. Services were identified through a combination of chart note review, medical record review and participant surveys.
Parents' Distress
时间窗: From baseline through 10 post-disclosure, with time points varying by measure. (Post-disclosure approx. 5 months after baseline; 3-months approx. 8 months after baseline; 10-months approx. 15 months after baseline)
Parents' Distress was assessed using validated scales measuring Anxiety and Depression, and a novel item assessing Blame with responses ranging from 1 to 5. Higher scores indicate more distress. Anxiety per the Edinburgh Postnatal Depression Scale anxiety subscale (baseline, post-disclosure, and 3 months; scores ranging from 0 to 9); Anxiety per the Generalized Anxiety Disorder Scale-7 (3 months and 10 months; scores ranging from 0 to 21); Depression per the Edinburgh Postnatal Depression Scale (baseline, post-disclosure, and 3 months; scores ranging from 0 to 30); Depression per the Patient Health Questionnaire-9 (3 months and 10 months; scores ranging from 0 to 30); Self-blame per a novel item (3 months and 10 months)
Downstream Health Care Utilization Attributable to BabySeq Project Disclosure: Number of Outpatient Lab Tests
时间窗: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
Per-patient counts for number of outpatient lab tests after results disclosure. Services were identified through a combination of chart note review, medical record review and participant surveys.
次要结局
- Change in Perceived Utility Toward Genomic Sequencing(From Baseline to 3 Months post-disclosure (approx. 8 months after baseline))
研究者
Robert C. Green, MD, MPH
Professor of Medicine, Division of Genetics, Department of Medicine
Brigham and Women's Hospital