Genetic Predisposition to DiseaseNCT05161169
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
A study testing Genome Sequencing in people with Genetic Predisposition to Disease and Hereditary Diseases, run by Brigham and Women's Hospital at 3 sites in United States.
Trial summary
This research study is exploring the use of genomic sequencing in the newborn period to screen healthy babies for current and future health risks. The study will enroll a diverse cohort of over 500 healthy infants and their parents from Boston, MA; New York City, NY; Birmingham, AL; and additional U.S. cities. Read more about this study
- Who is it for?
- Ages 0 to 12 monthsHealthy volunteers can take part
- Conditions the study is for
- Genetic Predisposition to Disease, Hereditary Diseases
- What is being tested?
- Genome Sequencing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 640 participants
- Where
- 3 sitesUnited States
- Study dates
- 21 Dec 2022to Oct 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 12 months
- All sexes
- Healthy volunteers accepted
- Child
Who may be able to join
- Infant participants
- Has not previously had exome or genome sequencing
- Age 0-12 months
- Seen for well-baby pediatric care at a recruiting site
- Primary healthcare provider completed the genomics education program
- At least one parent or guardian able to participate in the study
Show all 12Show fewer
- Parent participants
- Biological parent or legal guardian of an infant participating in the study
- 18 years of age or older
- Unimpaired decision-making capacity
- English or Spanish speaking
- Available to have genetic counseling and provide consent for testing the infant
Who cannot join
- Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician
- Any infant in which clinical considerations preclude collecting blood via heel stick
Trial locations and contacts
3 sites in 1 country.
United States3 sites
University of Alabama at Birmingham
Birmingham, Alabama, 35294
Boston Children's Hospital
Boston, Massachusetts, 02115
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
About this study
Official title: Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants (1U01TR003201-01A1)
This research study is exploring the use of genomic sequencing in the newborn period to screen healthy babies for current and future health risks. The study will enroll a diverse cohort of over 500 healthy infants and their parents from Boston, MA; New York City, NY; Birmingham, AL; and additional U.S. cities. A small blood sample will be collected from each infant, and whole genome sequencing will be performed in 1/2 of the cohort following a randomized controlled trial design. 3 months later, the randomization status and sequencing results will be shared with parents and pediatricians. Investigators will study the medical, behavioral, and economic outcomes of genomic sequencing to better understand how this technology can be implemented in outpatient primary care settings.
Read the detailed description
The objective of this research protocol is to assess the impacts of genomic sequencing in healthy infants from ethnically and racially diverse communities as part of routine pediatric care.
Investigators will enroll a cohort of over 500 healthy, ethnically and racially diverse infants from Boston, Massachusetts; New York City, New York; Birmingham, Alabama, and other U.S. cities and recruitment sites. As part of this study, a stakeholder board comprised of diverse community members will provide early and regular feedback throughout the study on anticipated and ongoing community reaction to the work with sensitivity to historical injustices and cultural diversity
Primary care pediatricians from each recruitment site will be enrolled for a brief genomics education curriculum. Only infants whose healthcare providers have joined the study will be enrolled.
A small blood sample will be obtained from each enrolled infant. Participants will randomized (1:1) to receive either a family history report or a family history report plus whole genome sequencing.
Genome sequencing data will be analyzed for pathogenic and likely pathogenic variants in genes associated with childhood-onset disease risks, as well as highly actionable adult-onset disease risks. If infants have a dominant risk identified, parents may choose to be screened as part of the study.
The study team will disclose the infant's randomization status and study results during a consultation with each family, and results will be sent to the infant's pediatrician.
Parents will be surveyed at three time points over the 12 months after enrollment: baseline, immediately post-disclosure (approximately 3 months after enrollment), and 6 months post-disclosure. Surveys will assess psychosocial impacts of newborn sequencing.
Chart reviews will be performed 12 months post-disclosure to assess the medical outcomes and healthcare utilization costs of newborn genome sequencing.
- Being tested
- Genome Sequencing
- Keywords
- genome sequencing, newborn screening, preventive medicine
- Medical subject headings
- Genetic Predisposition to Disease, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genome SequencingGenetic
20 times read depth (20x) next-generation whole genome sequencing with comprehensive analysis.
| Study group | Role | What they receive |
|---|---|---|
| Sequencing cohort | Experimental | Infants receive genome sequencing with analysis of 4,299 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. Receives: Genetic: Genome Sequencing |
| Control cohort | No intervention | Infants receive a detailed family history report plus standard well-child care. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Monogenic disease risks (MDRs)
Pathogenic (P) and likely pathogenic (LP) variants identified relevant to infant's health (dominant or biallelic recessive disease risks)
Measured: 3 months after enrollment
Carrier status variants
P and LP variants identified as recessive carrier status in infant
Measured: 3 months after enrollment
MDR-associated phenotype
Signs or symptoms of monogenic disease risk identified by genome sequencing
Measured: 3 months after enrollment and 1-year post-disclosure (15 months after enrollment)
Parenting stress, relationship dysfunction
Parenting Stress Index, 4th Edition Short Form (scored as a percentile 0 - 100%, higher scores indicate increased stress)
Measured: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
Relationship satisfaction
Kansas Marital Satisfaction Scale (Scored 3 to 21, higher scores indicate better marital quality)
Measured: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
General anxiety
General Anxiety Disorder-7
Measured: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
Secondary outcomes (8)
MDR-associated family history
Signs or symptoms of monogenic disease risk or recessive condition present in infant's biological family
Measured: 3 months after enrollment and 1-year post-disclosure (15 months after enrollment)
Intervention prompted by genetic or family history report
Healthcare intervention prompted by MDR or recessive carrier variant
Measured: 6 months post-disclosure (9 months after enrollment)
Suspected genetic condition
Any phenotype that develops in an infant or a family history suspected to have a genetic cause
Measured: 6 months post-disclosure (9 months after enrollment)
Child vulnerability
Vulnerable Baby Scale (scored 0-50, higher scores indicate increased perceptions of child vulnerability)
Measured: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
Feelings about genomic testing
Feelings About genomiC Testing Results (FACToR) Questionnaire
Measured: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
Partner blame
Novel item (higher scores indicate increased blame)
Measured: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
General depression
Patient Health Questionnaire (PHQ)-8
Measured: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
Self blame
Novel item (higher scores indicate increased blame)
Measured: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Dec 2021
- Study start21 Dec 2022
- Primary completionApr 2027 (estimated)
- Study completionOct 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic Predisposition to DiseaseStudies of the same condition, open and under way.
- More trials run by Brigham and Women's HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Model description
- Randomized controlled trial (control group vs. genome sequencing intervention)
- Masking
- Double blind
- Who is masked
- Participant, Care provider
- Enrolment
- 640 participants (actual)
Sponsor and investigators
- Lead sponsor
- Brigham and Women's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Baylor College of Medicine, Boston Children's Hospital, Broad Institute of MIT and Harvard, Harvard Pilgrim Health Care, HudsonAlpha Institute for Biotechnology, Massachusetts General Hospital, Icahn School of Medicine at Mount Sinai, University of Alabama at Birmingham, National Center for Advancing Translational Sciences (NCATS), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Responsible party
- Principal investigator, Robert C. Green, MD, MPH, Brigham and Women's Hospital
- Investigators
- Robert C. Green, MD, MPH, Principal investigator, Brigham and Women's HospitalIngrid A. Holm, MD, MPH, Principal investigator, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05161169
- Sponsor's protocol ID
- The BabySeq2 Project
- Status last verified
- Sep 2026
- First submitted
- 3 Dec 2021
- Last updated
- 2 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: The study protocol and statistical analysis plan will be shared on clinical trials.gov
Study at a glance
From the registry record, last updated by the sponsor on 2 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants (1U01TR003201-01A1)
- ClinicalTrials.gov ID
- NCT05161169
- Acronym / sponsor ID
- The BabySeq2 Project
- Keywords
- genome sequencing, newborn screening, preventive medicine
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 640 participants (actual)
- Lead sponsor
- Brigham and Women's HospitalUniversity, hospital or other
- Collaborators
- Baylor College of Medicine, Boston Children's Hospital, Broad Institute of MIT and Harvard, Harvard Pilgrim Health Care, HudsonAlpha Institute for Biotechnology, Massachusetts General Hospital, Icahn School of Medicine at Mount Sinai, University of Alabama at Birmingham, National Center for Advancing Translational Sciences (NCATS), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study start
- 21 Dec 2022 (actual)
- Primary completion
- Apr 2027 (estimated)
- Study completion
- Oct 2027 (estimated)
- First posted
- 17 Dec 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This research study is exploring the use of genomic sequencing in the newborn period to screen healthy babies for current and future health risks. The study will enroll a diverse cohort of over 500 healthy infants and their parents from Boston, MA; New York City, NY; Birmingham, AL; and additional U.S. cities. A small blood sample will be collected from each infant, and whole genome sequencing will be performed in 1/2 of the cohort following a randomized controlled trial design. 3 months later, the randomization status and sequencing results will be shared with parents and pediatricians. Investigators will study the medical, behavioral, and economic outcomes of genomic sequencing to better understand how this technology can be implemented in outpatient primary care settings.
Detailed description
The objective of this research protocol is to assess the impacts of genomic sequencing in healthy infants from ethnically and racially diverse communities as part of routine pediatric care.
Investigators will enroll a cohort of over 500 healthy, ethnically and racially diverse infants from Boston, Massachusetts; New York City, New York; Birmingham, Alabama, and other U.S. cities and recruitment sites. As part of this study, a stakeholder board comprised of diverse community members will provide early and regular feedback throughout the study on anticipated and ongoing community reaction to the work with sensitivity to historical injustices and cultural diversity
Primary care pediatricians from each recruitment site will be enrolled for a brief genomics education curriculum. Only infants whose healthcare providers have joined the study will be enrolled.
A small blood sample will be obtained from each enrolled infant. Participants will randomized (1:1) to receive either a family history report or a family history report plus whole genome sequencing.
Genome sequencing data will be analyzed for pathogenic and likely pathogenic variants in genes associated with childhood-onset disease risks, as well as highly actionable adult-onset disease risks. If infants have a dominant risk identified, parents may choose to be screened as part of the study.
The study team will disclose the infant's randomization status and study results during a consultation with each family, and results will be sent to the infant's pediatrician.
Parents will be surveyed at three time points over the 12 months after enrollment: baseline, immediately post-disclosure (approximately 3 months after enrollment), and 6 months post-disclosure. Surveys will assess psychosocial impacts of newborn sequencing.
Chart reviews will be performed 12 months post-disclosure to assess the medical outcomes and healthcare utilization costs of newborn genome sequencing.
Study design
- Primary purpose
- Screening
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Double blind (participant, care provider)
- Number of arms
- 2
- Model description
- Randomized controlled trial (control group vs. genome sequencing intervention)
| Arm | Type | Receives |
|---|---|---|
| Sequencing cohort | Experimental | Genetic: Genome SequencingInfants receive genome sequencing with analysis of 4,299 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. |
| Control cohort | No intervention | –Infants receive a detailed family history report plus standard well-child care. |
Who may qualify
- Ages
- 0 to 12 months
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
Key inclusion criteria (12 listed)
- Infant participants
- Has not previously had exome or genome sequencing
- Age 0-12 months
- Seen for well-baby pediatric care at a recruiting site
- Primary healthcare provider completed the genomics education program
Key exclusion criteria (2 listed)
- Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician
- Any infant in which clinical considerations preclude collecting blood via heel stick
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genome Sequencing20 times read depth (20x) next-generation whole genome sequencing with comprehensive analysis. | Genetic | Sequencing cohort |
Primary outcome
Monogenic disease risks (MDRs)
Time frame: 3 months after enrollment
Pathogenic (P) and likely pathogenic (LP) variants identified relevant to infant's health (dominant or biallelic recessive disease risks)
Carrier status variants
Time frame: 3 months after enrollment
P and LP variants identified as recessive carrier status in infant
MDR-associated phenotype
Time frame: 3 months after enrollment and 1-year post-disclosure (15 months after enrollment)
Signs or symptoms of monogenic disease risk identified by genome sequencing
Parenting stress, relationship dysfunction
Time frame: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
Parenting Stress Index, 4th Edition Short Form (scored as a percentile 0 - 100%, higher scores indicate increased stress)
Relationship satisfaction
Time frame: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
Kansas Marital Satisfaction Scale (Scored 3 to 21, higher scores indicate better marital quality)
General anxiety
Time frame: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
General Anxiety Disorder-7
8 secondary outcomes
MDR-associated family history
Time frame: 3 months after enrollment and 1-year post-disclosure (15 months after enrollment)
Intervention prompted by genetic or family history report
Time frame: 6 months post-disclosure (9 months after enrollment)
Suspected genetic condition
Time frame: 6 months post-disclosure (9 months after enrollment)
Child vulnerability
Time frame: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
Feelings about genomic testing
Time frame: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
Partner blame
Time frame: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
General depression
Time frame: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
Self blame
Time frame: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Oct 2026.
- Individual participant dataSharing planned: Yes. The study protocol and statistical analysis plan will be shared on clinical trials.gov
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Robert C. Green, MD, MPH principal investigator
Brigham and Women's Hospital
Ingrid A. Holm, MD, MPH principal investigator
Boston Children's Hospital
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Genome Sequencing in people with Genetic Predisposition to Disease and Hereditary Diseases, run by Brigham and Women's Hospital at 3 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 12 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 2 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Monogenic disease risks (MDRs) (time frame: 3 months after enrollment). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Oct 2026.