Dépistage génomique en uniforme contre les maladies rares chez tous les nouveau-nés (GUARDIAN)
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.
Aperçu de l'étude
Statut
Intervention / Traitement
Description détaillée
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.
Type d'étude
Inscription (Estimé)
Phase
- N'est pas applicable
Contacts et emplacements
Coordonnées de l'étude
- Nom: Anah Hetzler
- Numéro de téléphone: 212-305-5508
- E-mail: ak3578@cumc.columbia.edu
Lieux d'étude
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New York
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New York, New York, États-Unis, 10032
- Recrutement
- Columbia University Irving Medical Center/NYP
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Chercheur principal:
- Rudolph Leibel, MD
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Contact:
- Anah Hetzler
- Numéro de téléphone: 212-305-5508
- E-mail: ak3578@cumc.columbia.edu
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-
Critères de participation
Critère d'éligibilité
Âges éligibles pour étudier
Accepte les volontaires sains
Sexes éligibles pour l'étude
La description
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
Plan d'étude
Comment l'étude est-elle conçue ?
Détails de conception
- Objectif principal: Dépistage
- Répartition: N / A
- Modèle interventionnel: Affectation à un seul groupe
- Masquage: Aucun (étiquette ouverte)
Armes et Interventions
Groupe de participants / Bras |
Intervention / Traitement |
|---|---|
|
Expérimental: Enrolled in the study
All newborns enrolled in the study will be evaluated. |
Dried blood spots collected at birth for routine newborn screening will be used for genome sequencing based screening of a defined set of conditions. |
Que mesure l'étude ?
Principaux critères de jugement
Mesure des résultats |
Description de la mesure |
Délai |
|---|---|---|
|
Enrollment Rate (percentage)
Délai: From study launch to end of enrollment (up to 5 years)
|
Enrollment rate will be defined as: number of enrolled newborns / number of newborns approached by the research assistant. |
From study launch to end of enrollment (up to 5 years)
|
|
Successful Sequencing Rate (percentage)
Délai: Up to 6 months after the end of enrollment
|
Successful sequencing rate will be defined as: number of successful sequencing / number of enrolled newborns. |
Up to 6 months after the end of enrollment
|
|
Screen Positive Rate (percentage)
Délai: Up to 6 months after the end of enrollment
|
Screen positive rate will be defined as: number of newborns with a positive screening / number of successful sequencing. |
Up to 6 months after the end of enrollment
|
|
True Positive Rate (percentage)
Délai: Up to 6 months after the end of enrollment
|
True positive rate will be defined as: number of confirmed diagnosis / number of screen positive. |
Up to 6 months after the end of enrollment
|
Mesures de résultats secondaires
Mesure des résultats |
Description de la mesure |
Délai |
|---|---|---|
|
Score on Decision Regret Scale
Délai: Up to 6 months after the end of enrollment
|
The Decision Regret Scale measures distress or remorse after a health care decision. This 5-items scale ranges from 0 (no regrets - best outcome) to 100 (highest regret - worst outcome). Scores above 1 and below 25 are considered as an indication of mild regret. Scores above 25 are considered as an indication of moderate to severe regret. |
Up to 6 months after the end of enrollment
|
Collaborateurs et enquêteurs
Parrainer
Les enquêteurs
- Chercheur principal: Wendy K. Chung, MD, PhD, Boston Children's Hospital
Publications et liens utiles
Liens utiles
Dates d'enregistrement des études
Dates principales de l'étude
Début de l'étude (Réel)
Achèvement primaire (Estimé)
Achèvement de l'étude (Estimé)
Dates d'inscription aux études
Première soumission
Première soumission répondant aux critères de contrôle qualité
Première publication (Réel)
Mises à jour des dossiers d'étude
Dernière mise à jour publiée (Réel)
Dernière mise à jour soumise répondant aux critères de contrôle qualité
Dernière vérification
Plus d'information
Termes liés à cette étude
Mots clés
Autres numéros d'identification d'étude
- AAAS9161
Plan pour les données individuelles des participants (IPD)
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Description du régime IPD
IPD will not be shared with other researchers.
Informations sur les médicaments et les dispositifs, documents d'étude
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