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Genetic Testing

Genome Sequencing for Newborn Screening

N/A
Recruiting
Led By Robert C. Green, MD, MPH
Research Sponsored by Brigham and Women's Hospital
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial
Must have
Age 0-12 months
18 years of age or older
Timeline
Screening 3 weeks
Treatment Varies
Follow Up baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
Awards & highlights

Study Summary

This trial is exploring whether genomic sequencing of newborns can help identify health risks. 500 infants will be enrolled from 3 cities, and half of them will have their genomes sequenced. Results will be shared with parents and pediatricians 3 months later.

Who is the study for?
This trial is for healthy infants up to 12 months old and their parents in select U.S. cities. Parents must be over 18, speak English or Spanish, willing to have genetic counseling, and agree to place genomic reports in medical records. Infants should not show signs of genetic conditions or illness.Check my eligibility
What is being tested?
The study tests whole genome sequencing as a screening tool for future health risks in babies. It involves taking a blood sample from each infant and randomly selecting half for immediate genome sequencing, with results shared after three months.See study design
What are the potential side effects?
Since the intervention involves only collecting a small blood sample for genome sequencing, there are no direct side effects like those associated with medications; however, potential indirect effects may include privacy concerns or psychological impact from learning about genetic risks.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below
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I am under 1 year old.
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I am 18 years old or older.
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I can make decisions for myself.
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My doctor is trained in genomics.

Timeline

Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~3 months after enrollment
This trial's timeline: 3 weeks for screening, Varies for treatment, and 3 months after enrollment for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.
Primary outcome measures
Carrier status variants
MDR-associated phenotype
Monogenic disease risks (MDRs)
+3 more
Secondary outcome measures
Feelings about genomic testing
MDR-associated family history
Other outcome measures
All healthcare costs
Cost of attributable services
Cost of genomic services
+2 more

Trial Design

2Treatment groups
Experimental Treatment
Active Control
Group I: Sequencing cohortExperimental Treatment1 Intervention
Infants receive genome sequencing with analysis of approximately 1000 genes associated with childhood-onset and highly actionable adult-onset disease risks. Pathogenic and likely pathogenic variants are reported to the child's parents and pediatrician. Participants also receive a detailed family history report and standard well-child care.
Group II: Control cohortActive Control1 Intervention
Infants receive a detailed family history report plus standard well-child care.

Find a Location

Who is running the clinical trial?

National Center for Advancing Translational Science (NCATS)NIH
99 Previous Clinical Trials
35,809 Total Patients Enrolled
Massachusetts General HospitalOTHER
2,933 Previous Clinical Trials
13,197,981 Total Patients Enrolled
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)NIH
1,965 Previous Clinical Trials
2,672,297 Total Patients Enrolled

Media Library

Genome Sequencing (Genetic Testing) Clinical Trial Eligibility Overview. Trial Name: NCT05161169 — N/A
Genetic Predisposition Research Study Groups: Control cohort, Sequencing cohort
Genetic Predisposition Clinical Trial 2023: Genome Sequencing Highlights & Side Effects. Trial Name: NCT05161169 — N/A
Genome Sequencing (Genetic Testing) 2023 Treatment Timeline for Medical Study. Trial Name: NCT05161169 — N/A

Frequently Asked Questions

These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

Are there any current opportunities to take part in this clinical trial?

"Unfortunately, the clinical trial detailed on clinicialtrials.gov has concluded its recruitment of participants. Initially posted in February 2022 and last updated in December 2021, this study is no longer enrolling patients; however, 77 other trials are still actively looking for volunteers at this moment."

Answered by AI

What criteria must be fulfilled to take part in this clinical experiment?

"500 individuals are being recruited for this medical experiment, all of whom must possess a genetic pre-disposition to the studied illness and be between 0 months old and 6 months old."

Answered by AI

Does this clinical experiment allow participants aged seventy-five or over?

"To be eligible for this study, patients must fall between 0 months and 6 months of age. An additional 41 studies are available to those under 18 years old, while 59 trials exist for seniors over 65."

Answered by AI

Who else is applying?

What state do they live in?
Mississippi
What portion of applicants met pre-screening criteria?
Met criteria
How many prior treatments have patients received?
0
Recent research and studies
clinicaltrials.govStudy
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
Robert C. Green, MD, MPH 2022. "Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants". ClinicalTrials.gov. https://clinicaltrials.gov/ct2/show/NCT05161169.
~180 spots leftby Feb 2025
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