Hereditary Cancer SyndromeFOCUSNCT07195071
Feasibility Trial of Combination of Obstetrical Carrier Screening and Hereditary Cancer Screening
An observational study of Hereditary Cancer Syndrome, run by Columbia University at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 to 55 years, women onlyHealthy volunteers can take part
- Conditions the study is for
- Hereditary Cancer Syndrome
- What is being tested?
- Natera empower comprehensive hereditary cancer panel and Obstetrical carrier screening
- Type of treatment
- Medical device
- How many people
- 1,000 participants
- Where
- 1 siteUnited States
- Study dates
- 12 Feb 2026to 31 Dec 2028
- Phase
- Observational
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 18 to 55 years
- Women only
- Healthy volunteers accepted
- Adult
Study population: Patients receiving expanded carrier screening at OBGYN clinics
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Columbia University Irving Medical Center
New York, New York, 10032
Jessica Giordano, 212-305-7250, jlg2197@cumc.columbia.edu
Reena M Vattakalam, 212-342-6895, rmv2110@cumc.columbia.edu
About this study
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
Read the 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.
- Conditions
- Hereditary Cancer Syndrome
- Being tested
- Natera empower comprehensive hereditary cancer panel, Obstetrical carrier screening
- Keywords
- obstetrical carrier screening, Pregnant women, prenatal screening, carrier screening, genetic testing, hereditary cancer, hereditary cancer genetic testing
- Medical subject headings
- Neoplastic Syndromes, Hereditary
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Natera empower comprehensive hereditary cancer panelDevice
Natera Empower Comprehensive Hereditary Cancer Panel to screen for hereditary cancers
Obstetrical carrier screeningDevice
Obstetrical carrier screening for genetic conditions
| Study group | Role | What they receive |
|---|---|---|
| Arm A: Hereditary cancer testing | Hereditary Cancer screenings testing and Obstetric Cancer Screening Receives: Device: Natera empower comprehensive hereditary cancer panel; Device: Obstetrical carrier screening | |
| Arm B: No hereditary caner testing | Obstetric Cancer screening test only Receives: Device: Obstetrical carrier screening |
What is being measured
The primary outcome is the main question the study is designed to answer.
Percentage of Participants Who Complete Both HCS and OCS
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.
Measured: Approximately at the end of recruitment, expected at 2 years
Secondary outcomes (6)
Score on Regret About Healthcare Decisions survey
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).
Measured: 2 to 6 months after enrollment
Score on Regret About Healthcare Decisions Survey among pregnant participants
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).
Measured: Approximately at the end of recruitment, expected at 2 years
Score on Regret About Healthcare Decisions Survey among nonpregnant participants
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).
Measured: Approximately at the end of recruitment, expected at 2 years
Hereditary cancer screening results
Number of pathologic variants identified by hereditary cancer screening.
Measured: Approximately at the end of recruitment, expected at 2 years
Percentage of High-Risk Participants Utilizing Guideline-Based Cancer Mitigation Strategies
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.
Measured: 18 months after enrollment
Percentage of Participants Who Complete Both HCS and OCS during pregnancy
The percent of patients who complete hereditary cancer screening (HCS) when offered in addition to routine obstetrical carrier screening (OCS) while pregnant.
Measured: Approximately at the end of recruitment, expected at 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Sep 2025
- Study start12 Feb 2026
- Primary completion31 Dec 2027 (estimated)
- Study completion31 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary Cancer SyndromeStudies of the same condition, open and under way.
- More trials run by Columbia UniversityThe 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Collaborators
- Natera, Inc.
- Responsible party
- Principal investigator, Shayan M. Dioun, Columbia University
- Investigators
- Shayan Dioun, MD, Principal investigator, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07195071
- Sponsor's protocol ID
- AAAV8327
- Acronym
- FOCUS
- Status last verified
- Oct 2026
- First submitted
- 19 Sep 2025
- Last updated
- 21 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- Yes
- Individual data sharing
- Undecided