Genomic Uniformed-Screening Against Rare Disease In All Newborns

Conditions

• Early Onset Genetic Conditions With Near Complete Penetrance

Eligibility Criteria

Sex

ALL

Age

1 Day - 1 Month

Healthy Volunteers

Accepted

Interventions

• Genome sequencing-based newborn screening — OTHER
  Dried blood spots collected at birth for routine newborn screening will be used for genome sequencing based screening of a defined set of conditions.

Study Details

The goal of this study is to learn how genomic sequencing technology can be used to effectively expand the conditions screened on newborn screening. Newborn screening ensures equity and allows all babies to have the same chance at the healthiest life. Families will be invited to have their newborn baby screened for additional conditions beyond what all babies are screened for as part of the newborn screening public health program. Families can choose to be part of the study or choose not to be part of the study and just have the routine newborn screening test. 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 routine newborn screening 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 decision not to participate, and we will interview a subset of parents who agree to be interviewed. Newborns who screen positive 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.

Key Dates

Start date

Sep 6, 2022

Status verified

Sep 2025

Primary completion

Sep 30, 2029

Completion

Sep 30, 2029

Study Design

Enrollment

100,000 participants (estimated)

Allocation

NA

Intervention model

SINGLE_GROUP

Primary purpose

SCREENING

Arms

• Experimental: Enrolled in the study
  All newborns enrolled in the study will be evaluated.

Primary Outcome Measure

Enrollment Rate (percentage) [ Time Frame: From study launch to end of enrollment (up to 5 years) ]

Central Contacts

• Anah Hetzler
  212-305-5508
  [email protected]

Locations (1)

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