Harvard Catalyst Profiles

The goal of this study is to learn how genomic sequencing (GS) technology can be used to effectively expand the conditions screened on newborn screening (NBS). NBS ensures equity and allows all babies to have the same chance at the healthiest life. We will invite families to have their newborn baby screened for additional conditions beyond what all babies are screened for as part of the NBS public health program. Families can choose to be part of the sequencing study or choose not to be part of the sequencing study and just have tests that are currently offered by NBS program. Enrolled families will also be able to choose to learn about their baby’s risk for conditions that have effective treatments available but are not on the Massachusetts NBS panel or also learn about conditions for which there is not currently FDA approved medications but for which medications are under development or for which early intervention services or treatment of seizures may improve the child’s outcome. Families will be invited to the study shortly after the baby is born and will learn the results 3-6 weeks after they enroll. They will be surveyed about their experience participating or decision not to participate, and we will interview a subset of parents who agree to be interviewed. Newborns who screen positive through sequencing will be referred to appropriate providers for care and will be followed through review of electronic medical records and parental follow up via phone, text, postal mail or email.

We have identified several novel genes associated with neurodevelopmental conditions. Students will be mentored in helping to characterize these new conditions, develop support groups for families learning about these conditions, and writing manuscripts describing these conditions in scientific and medical journals.