Genomic Uniformed-Screening Against Rare Disease In All Newborns

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

100000 participants

Study Classification

INTERVENTIONAL

Study Start Date

2022-09-06

Study Completion Date

2029-09-30

Brief Summary

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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.

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Detailed Description

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Newborn screening (NBS) is the process of screening all newborns for select conditions shortly after birth. This process reduces morbidity and mortality by the detection of medically actionable conditions in pre-symptomatic newborns. Approximately 1 in every 180 newborns is diagnosed with a condition through NBS. NBS is a public health service; every infant regardless of health insurance or ability to pay is tested. NBS ensures equity and allows all babies to have the same chance at the healthiest life. Effective NBS requires coordination and collaboration from multiple stakeholders - the parents, the hospital of birth, state department of health lab, the pediatrician, and the specialty referral center.

Conditions included on the NBS must fulfill several criteria: 1) significant clinical benefit for the newborn early in life including treatment administered within the first few years of life, 2) readiness of public health departments to effectively screen for the condition, and 3) feasibility of successful implementation of population screening. In the United States, screening of newborns is under the purview of state public health departments. Each state decides which disorders to screen, and expansions to each state's panel of screened conditions. The federal government also plays a role through the Secretary of Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). With rapid improvements in screening technology, diagnostic testing, and treatments, conditions not previously screened through NBS are being considered. Expanding NBS through genome-wide sequencing (GS) will be the most flexible and cost-effective way to add to what is currently in use.

Conditions

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Early Onset Genetic Conditions With Near Complete Penetrance

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

SCREENING

Blinding Strategy

NONE

Study Groups

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Enrolled in the study

All newborns enrolled in the study will be evaluated.

Group Type EXPERIMENTAL

Genome sequencing-based newborn screening

Intervention Type 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.

Interventions

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Genome sequencing-based newborn screening

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

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Newborns admitted to the well-baby nurseries from the recruiting hospitals
* Newborns born after 33 weeks of gestation
* Newborns whose parents are English, Mandarin, or Spanish speaking

Minimum Eligible Age

1 Day

Maximum Eligible Age

1 Month

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes