Clinical Trial: Genomic Sequencing for Childhood Risk and Newborn Illness

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional

Official Title: Genomic Sequencing for Childhood Risk and Newborn Illness (The BabySeq Project)

Brief Summary:

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.

Detailed Summary:

The objective of this research protocol is to conduct a pilot 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.

Parents will be surveyed at four points over the 12 months after enrollment: baseline, immediately post-disclosure (approximately 6 weeks after enrollment), 3 months p
Sponsor: Brigham and Women's Hospital

Current Primary Outcome:

• Change in family/physician healthcare utilization immediately after results disclosure compared to 3 and 10 months post-disclosure [ Time Frame: Immediately post-disclosure (parents-approximately 6 weeks after enrollment), Post-disclosure (physician surveys administered approximatley 4 weeks after results disclosure), 3 months post-disclosure (parents), 10 months post-dislcosure (parents) ]
  Assessed in physician and parent surveys
• Change in baseline family relationship and personal distress levels compared to immediately post-disclosure, 3 months post-disclosure and 10 months post-disclosure [ Time Frame: Baseline, immediately post-disclosure (approximately 6 weeks after enrollment), 3 months post-disclosure, 10 months post-disclosure ]
  Assessed in parent surveys via questions assessing: parent-child bonding, personal distress, perceptions of child, partner relationship, child-centered stress

Original Primary Outcome: Same as current

Current Secondary Outcome:

• Participant characteristics [ Time Frame: Baseline ]
  Assessed in parent and physician surveys via questions assessing: sociodemographics, personal and family history, genetic literacy and numeracy, dispositions
• Change in baseline perceived utility of genomic results compared to post-disclosure [ Time Frame: Baseline, 3 months post-disclosure (parents), post-disclosure (physicians - 4 weeks after results disclosure), end of study (physicians - up to 40 months after completion of the baseline survey) ]
  Assessed in parent and physician surveys via questions assessing: expectations, satisfaction with and perceived utility of genomic results

Original Secondary Outcome: Same as current

Information By: Brigham and Women's Hospital

Dates:
Date Received: April 10, 2015
Date Started: May 2015
Date Completion: August 2018
Last Updated: January 31, 2017
Last Verified: January 2017