guideSEQ: Genomic Understanding, Impact, Decision & Ethics in Prenatal Sequencing

NCT07610590 | Recruiting

• 2 other identifiers: ACYY01802R01HD055651-16
• Study Type: interventional
• Target: 1,042
• Locations: 1 country
• Sites: 3

Brief Summary

This study looks at whether genome sequencing should be used more routinely during pregnancy, even when ultrasounds look normal. Genome sequencing can examine nearly all of a baby's genes and may find genetic conditions that standard tests do not detect. Researchers will compare this test with current prenatal testing to see if it provides helpful information for families and doctors. The study will also explore how parents decide what kinds of genetic information they want to receive and how this information affects their experience during pregnancy. The goal is to understand whether genome sequencing can be used in a way that is helpful, responsible, and supportive for families in the future.

Conditions

Prenatal Genetic Diagnosis

Keywords

Genome Sequencing

Outcome Measures

Primary Outcomes (1)

• Incremental Genomic Frequency

  The incremental frequency of fetal genetic conditions identified and reported by genomic sequencing (GS) compared to those found by standard-of-care (SOC) testing, including pathogenic, likely pathogenic, or variant of uncertain significance (VUS) variants identified by sequencing and deemed reportable by the Variant Adjudication Committee

  Baseline to 12 months postpartum.

Secondary Outcomes (23)

• Frequency and type of pathogenic and likely pathogenic (P/LP) genomic findings by SOC and GS independently

  Baseline to 12 months postpartum.

• Percent and type of P/LP findings reported

  Baseline to 12 months postpartum.

• Percent of fetal P/LP findings requiring adjudication

  Baseline to 12 months postpartum.

• Turnaround time of SOC and GS testing

  Baseline to 12 months postpartum.

• Frequency of reportable genomic findings in mother

  Baseline to 12 months postpartum.

Interventions

Genome Sequencing (GS) GENETIC

Genome sequencing (GS) is a genetic test that involves reading the genome to identify genetic changes (also known as "genetic variants") that can cause differences in human development and disease.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Patient planned chorionic villus sampling (CVS) or amniocentesis in the absence of major fetal structural anomalies (minor anomalies are eligible, the HPO (Human Phenotype Ontology) will not be used by the analyst)
• Certified genetic counselor involved in care

You may not qualify if:

• A major structural anomaly
• Maternal or paternal age less than 18 years old
• Parental unwillingness to participate in 1 year of postnatal follow-up
• Language barrier (non-English or Spanish speaking)

Sponsors & Collaborators

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): collaborator
• Columbia University: lead

Study Sites (3)

Boston Childrens Hospital

Boston, Massachusetts, 02115, United States

ACTIVE NOT RECRUITING

New York Genome Center

New York, New York, 10013, United States

ACTIVE NOT RECRUITING

Columbia University Irving Medical Center (CUIMC)

New York, New York, 10032, United States

RECRUITING

Study Officials

• Ronald Wapner, MD

  Columbia University Irving Medical Center (CUIMC)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Camila Zarate, MPH

CONTACT

646-300-0197; cz2888@cumc.columbia.edu

Jessica Giordano, MS, CGC

CONTACT

516-521-5604; jlg2197@cumc.columbia.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SEQUENTIAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Obstetrics and Gynecology; Director of Reproductive Genetics

Study Record Dates

• First Submitted: May 20, 2026
• First Posted: May 28, 2026
• Study Start: April 29, 2026
• Primary Completion (Estimated): July 31, 2029
• Study Completion (Estimated): July 31, 2029
• Last Updated: July 15, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will share
• Time Frame: At the conclusion of the study, the final dataset will be prepared by Columbia and Broad for archiving and sharing.
• Access Criteria: Raw genomic data (CRAM/VF) and detailed phenotype information will be submitted to the RIFGC. Controlled access to this repository is governed by dbGaP authorization requests and supervised by the consortium. Raw data, when possible, are available through AnVIL. We will also utilize governance and standards including Clinical Laboratory Improvement Amendments, Health Insurance Portability and Accountability Act (HIPAA), Fast Healthcare Interoperability Resources (FHIR) Health Level 7 (HL7), United States Core Data for Interoperability (USCDI), and the National Center for Biotechnology Information (NCBI) MedGen.

Locations

US (3)