Whole Genome Sequencing in the Neonatal Intensive Care Unit

NCT03721458 | Completed

• 1 other identifier: 00007970
• Study Type: observational
• Target: 3
• Locations: 1 country
• Sites: 1

Brief Summary

This research is being done to see if whole genome sequencing (WGS) improves the diagnosis of patients in the NICU. Using WGS in this way, which is relatively new, researchers at Penn State College of Medicine will look at approximately 5000 genes that are known to be associated with genetic diseases to see if the neonatal patient has a known disease causing mutation. Comparing the parents' DNA with the child's will help the investigators better understand the child's DNA.

Conditions

Genetic Diseases, Inborn

Outcome Measures

Primary Outcomes (1)

• Diagnosis success rate

  The investigator will determine the percent of patients for which sequencing provided a correct genetic disease diagnosis, relative to that obtained by standard clinical evaluation.

  1-2 years

Secondary Outcomes (1)

• Effectiveness of exome sequencing relative to whole genome sequencing.

  1-2 years

Interventions

Sequence OTHER

Potentially identifying genetic defects that could have clinical significance

Eligibility Criteria

• Age: 1 Day+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patient is admitted to the NICU, evaluated by the clinical staff, recommended for participation in this study and consented.

You may qualify if:

• Age: ≤ 180 days
• Sex: male or female
• Admitted to the Hershey Medical Center NICU with a clinical presentation consistent with a genetic disease, e.g. congenital malformations, metabolic disorder, uncontrolled seizures or unexplained abnormal neurological findings.
• Both Biological Parents are involved in the study

You may not qualify if:

• Age: \> 180 days
• Known genetic mutation.
• Age: ≥18 years
• Both biological parents must be willing to participate in the research.
• Fluent in written and spoken English.
• Age: \<18 years
• Prisoner
• Cognitive impairment

Sponsors & Collaborators

• Milton S. Hershey Medical Center: lead

Study Sites (1)

Penn State Health Milton S. Hershey Medical Center

Hershey, Pennsylvania, 17033, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Whole Blood

MeSH Terms

Conditions

Genetic Diseases, Inborn

Interventions

Base Sequence

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Molecular Structure; Biochemical Phenomena; Chemical Phenomena; Genetic Structures; Genetic Phenomena

Study Officials

• James Broach, PhD

  Milton S. Hershey Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director of the Institute for Personalized Medicine

Study Record Dates

• First Submitted: April 4, 2018
• First Posted: October 26, 2018
• Study Start: May 28, 2019
• Primary Completion: June 30, 2020
• Study Completion: June 30, 2020
• Last Updated: February 1, 2021

Record last verified: 2021-01

Locations

US (1)