NSIGHT BabySeq Project

The Genomic Sequencing for Childhood Risk and Newborn Illness (BabySeq Project) is a research study exploring the use of genomic sequencing in newborns. The National Institutes of Health is funding this study. Investigators enrolled 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 was taken from each infant and genome sequencing may have been performed. Whole-exome (WES) was performed at the Broad Institute. Six weeks later, the results were returned and explained. Over 12 months, the investigators studied the experiences of parents and pediatricians of infants who receive sequencing to help understand how best to use genomics in pediatric care. Parents were surveyed at four points over the 12 months after enrollment: baseline, immediately post-disclosure (approximately 6 weeks after enrollment), 3 months post-disclosure, and at 10 months post-disclosure. Primary outcome measures included: (1) downstream health care costs attributable to BabySeq Project disclosure measured as days of inpatient care; (2) Parents' distress using validated scales and a novel item assessing blame; (3) parent-child relationship using validated scales; (4) Parents' relationship using validated and novel measures of marital satisfaction; (5-9) downstream health care utilization attributable to BabySeq project disclosure measured as the number of health care provider visits, per-patient counts for number of medications at 10 months, number of emergency room visits, number of outpatient lab tests, and per-patient means for healthcare costs in U.S. dollars. A secondary outcome was whether there was a change in perceived utility toward genomic sequencing. Findings of BabySeq include: (1) interest in newborn genomic testing is high among parents of healthy children and the majority of couples had similar levels of interest; (2) parents reported several motivations to receive and reasons to decline adult-onset only results from newborn sequencing; (3) 88% of newborns had at least one recessive carrier variant that could be relevant to their parents' future reproductive planning; (4) 5% of babies had an atypical pharmacogenomic variant related to how they might process medications used in childhood; (5) parent surveys using validated measures showed no evidence that newborn genomic sequencing caused increased psychological distress, even if the baby had a disease risk identified; and (6) 11% of newborn babies in the study had unanticipated monogenic disease risks. ]]>
General Eligibility Ages Eligible for Study: Child, adult, older adult Sexes Eligible for Study: All Accepts Healthy Volunteers: No Newborns and Parents at Brigham and Women's Hospital (BWH) Well Newborn Nursery: Inclusion Criteria: Infants born at BWH and admitted to the Well Newborn Nursery 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 rearing or biological) carried the pregnancy Exclusion Criteria: Parents are non-English speaking Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatricianMother 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 Missing consent of either biological parent (if known) or rearing parent (if applicable) Sick Newborns and Parents at Boston Children's Hospital (BCH) or the BWH NICU: Inclusion Criteria: 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 Exclusion Criteria: 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]]>
Project Start Date - September 5, 2013Project End Date - April 5, 2020]]>