Feasibility Trial of Combination of Obstetrical Carrier Screening and Hereditary Cancer Screening (FOCUS)

February 16, 2026 updated by: Shayan M. Dioun, Columbia University
The investigators hypothesize that preconception and pregnancy may be a feasible and effective time to offer inherited cancer risk screening. This study will assess interest in cancer genetic testing among patients receiving routine prenatal care or preconception care. The goal is to evaluate the acceptability of hereditary cancer testing when offered alongside standard prenatal genetic screening. The study will also explore whether universal screening in this population could support early cancer prevention

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

In this prospective trial, a clinician in the department of OBGYN will meet with preconception/pregnant patients who are undergoing obstetrical carrier screening (OCS) at Columbia University affiliated OBGYN clinics to review the options for concurrent hereditary cancer screening (HCS). If interested in the study, the patient will be contacted by a study coordinator and offered participation in the study. The patients will have counseling on potential risks and benefits of genetics testing and have OCS performed per standard of care protocols. This consultation will include collection of comprehensive personal and family history to generate a cancer genetic risk assessment. The patient will be counseled based on their cancer genetic risk assessment, whether or not National Comprehensive Cancer Network (NCCN) guidelines for cancer risk assessment are met and the resulting anticipated cost. The patient will be offered additional consultation with a genetic counselor and/or a Natera financial representative if desired for further counseling. If the patient decides to proceed with HCS, the Natera Empower Hereditary Cancer Panel will be drawn at the time of the OCS panel blood draw and sent to Natera for processing. OCS results will be sent separately and reported to the patient based on standard protocols. Patients that have HCS panels sent will be notified of their results by a genetic counselor from Columbia University's Department of OBGYN and standard of care post test counseling/referrals made.

The study team will evaluate patient acceptance of testing and the patient experience, via validated surveys conducted at time of testing. The study team will evaluate if patient sociodemographic characteristic (e.g. age, parity, race, ethnicity, medical history, family history) are associated with patient acceptance of the combined OCS/HSC panel. Patients that elect to undergo HCS panel will also complete the Regret About Healthcare Decisions Survey after receiving their HCS results. Participation in surveys is encouraged but not mandatory. All patient demographics, survey screens and results will be stored in a secure online database maintained by Columbia University's Department of OBGYN. This data will be entered and maintained by study personal at Columbia University. Patients enrolled in the study will be invited to participate in an interview conducted by telephone at times convenient for them. Interviews will be conducted by language-concordant, trained qualitative experts. Interviews will be recorded and transcribed. Participation in the interview is not mandatory.

Patients that completed HCS and had a mutation that resulted in a recommendation for clinical follow up (e.g. BRCA 1/2 mutation with recommendation for breast screening) will be contacted by telephone at 18 months and asked whether they completed the medical follow-up prompted by HCS results. Participation in this follow-up is not mandatory.

Study Type

Interventional

Enrollment (Estimated)

1000

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • New York
      • New York, New York, United States, 10032
        • Recruiting
        • Columbia University Irving Medical Center
        • Contact:
        • Contact:
        • Principal Investigator:
          • Shayan Dioun, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult

Accepts Healthy Volunteers

Yes

Description

Inclusion criteria:

  • Age: 18 years - 55 years
  • Patients receiving obstetrical-related care at a CUMC-affiliated enrollment site
  • Patients who have elected to undergo OCS with the CUMC-affiliated obstetrics provider
  • Patients with prior OCS but planned to repeat OCS are eligible
  • Patients can speak and read in English or Spanish

Exclusion criteria:

  • Patients who have previously completed a multigene hereditary cancer syndrome panel
  • Patients that have a hematologic cancer or hematologic pre-cancer
  • Patients who have a history of an autologous bone marrow transplant

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Screening
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Arm A: Hereditary cancer testing
Hereditary Cancer screenings testing and Obstetric Cancer Screening
Device: Natera empower comprehensive hereditary cancer panel
Natera Empower Comprehensive Hereditary Cancer Panel to screen for hereditary cancers
Device: Obstetrical carrier screening
Obstetrical carrier screening for genetic conditions
Active Comparator: Arm B: No hereditary caner testing
Obstetric Cancer screening test only
Device: Obstetrical carrier screening
Obstetrical carrier screening for genetic conditions

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Percentage of Participants Who Complete Both HCS and OCS
Time Frame: Approximately at the end of recruitment, expected at 2 years
The percent of patients who complete hereditary cancer screening (HCS) when offered in addition to routine obstetrical carrier screening (OCS) during preconception and obstetrical-related care.
Approximately at the end of recruitment, expected at 2 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Score on Regret About Healthcare Decisions survey
Time Frame: 2 to 6 months after enrollment
Participant experience with combined HCS and OCS will be assessed using a validated Regret About Healthcare Decisions Survey. The minimum score is 0 (lowest regret) to 100 (highest regret).
2 to 6 months after enrollment
Score on Regret About Healthcare Decisions Survey among pregnant participants
Time Frame: Approximately at the end of recruitment, expected at 2 years
Assessment of participant experience with combined OCS and HCS in pregnant participants using Regret About Healthcare Decisions Survey and qualitative interviews. The minimum score is 0 (lowest regret) to 100 (highest regret).
Approximately at the end of recruitment, expected at 2 years
Score on Regret About Healthcare Decisions Survey among nonpregnant participants
Time Frame: Approximately at the end of recruitment, expected at 2 years
Assessment of participant experience with combined OCS and HCS in nonpregnant participants using Regret About Healthcare Decisions Survey and qualitative interviews. The minimum score is 0 (lowest regret) to 100 (highest regret).
Approximately at the end of recruitment, expected at 2 years
Hereditary cancer screening results
Time Frame: Approximately at the end of recruitment, expected at 2 years
Number of pathologic variants identified by hereditary cancer screening.
Approximately at the end of recruitment, expected at 2 years
Percentage of High-Risk Participants Utilizing Guideline-Based Cancer Mitigation Strategies
Time Frame: 18 months after enrollment
Among participants who complete both HCS and OCS and are identified as being at elevated cancer risk, this measure captures the percentage who undergo one or more guideline-based cancer mitigation strategies, such as mammogram, breast MRI, or colonoscopy.
18 months after enrollment
Percentage of Participants Who Complete Both HCS and OCS during pregnancy
Time Frame: Approximately at the end of recruitment, expected at 2 years
The percent of patients who complete hereditary cancer screening (HCS) when offered in addition to routine obstetrical carrier screening (OCS) while pregnant.
Approximately at the end of recruitment, expected at 2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Columbia University

Collaborators

Natera, Inc.

Investigators

  • Principal Investigator: Shayan Dioun, MD, Columbia University

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 12, 2026

Primary Completion (Estimated)

December 31, 2027

Study Completion (Estimated)

December 31, 2028

Study Registration Dates

First Submitted

September 19, 2025

First Submitted That Met QC Criteria

September 19, 2025

First Posted (Actual)

September 26, 2025

Study Record Updates

Last Update Posted (Actual)

February 18, 2026

Last Update Submitted That Met QC Criteria

February 16, 2026

Last Verified

February 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • AAAV8327

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

Yes

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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