Genomic Sequencing for Childhood Risk and Newborn Illness
Hereditary Disease, Genetic Predisposition to Disease
About this trial
This is an interventional other trial for Hereditary Disease focused on measuring Genome Sequencing, Exome Sequencing, Newborn Screening, Childhood Onset Genetic Conditions
Eligibility Criteria
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 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
- 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
Sites / Locations
- Boston Children's Hospital
- Brigham and Women's Hospital
Arms of the Study
Arm 1
Arm 2
Arm 3
Arm 4
Active Comparator
Experimental
Active Comparator
Experimental
Well Baby Family History Only
Well Baby Family History + Exome Sequencing
ICU Baby Family History Only
ICU Baby Family History + Exome Sequencing
Parents of newborns in well-baby units receive an Annotated Family History Report only. Active Comparator: Standard of Care Only: Family History report only
Parents of newborns in well-baby units receive a Genome Report and an Annotated Family History Report. Main Study Experimental: Genome Report and Family History report
Parents of newborns in intensive care units receive an Annotated Family History Report only. Active Comparator: Standard of Care Only: Family History report only
Parents of newborns in intensive care units receive a Genome Report and an Annotated Family History Report. Main Study Experimental: Genome Report and Family History report