Trial of Combined Obstetric Carrier Screening and Hereditary Cancer Screening

NCT07052266 | Recruiting

• 1 other identifier: 25-02028559
• Study Type: interventional
• Target: 550
• Locations: 1 country
• Sites: 5

Brief Summary

The investigators hypothesize that pregnancy and preconception care 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 or preconception/fertility care. The goal is to evaluate the acceptability of BRCA1/2 testing when offered alongside standard prenatal genetic screening. The study will also explore whether universal screening in this population could support early cancer prevention and be cost-effective, especially among underserved populations.

Conditions

Hereditary Cancer Syndromes

Keywords

Genetic Testing; Carrier Screening; Prenatal Screening; Reproductive Genetic Testing; Feasibility Study; Universal Screening

Outcome Measures

Primary Outcomes (1)

• Percentage of Participants Who Complete Both HCS and OCS

  Percentage of enrolled participants who successfully complete both HCS and OCS during the study period. Completion is defined as having documented results for both screenings

  Approximately within the end of recruitment expected at 2 years

Secondary Outcomes (7)

• Percentage of Participants Completing Both HCS and OCS, Stratified by Demographic and Clinical Characteristics

  Approximately at the end of recruitment, expected at 2 years.

• Percentage of High-Risk Participants Utilizing Guideline-Based Cancer Mitigation Strategies

  From completion of screening up to 18 months post-screening

• Participant Experience with Combined HCS and OCS measured by the NCCN Distress Thermometer

  The questionnaire is received right after genetic counseling regarding HCS has been received.

• Participant Experience with Combined HCS and OCS measured by Satisfaction with Genetic Counseling Scale

  The questionnaire is received right after genetic counseling regarding HCS has been received.

• Participant Experience with Combined HCS and OCS measured by Satisfaction with Decision Scale

  The questionnaire is received right after genetic counseling regarding HCS has been received.

Study Arms (2)

Collection of HCS and OCS for patients receiving obstetrical-related care

EXPERIMENTAL

The first arm is for an obstetrical/prenatal (standard arm) setting

Genetic: MyRisk Hereditary Cancer Test

Collection of HCS and OCS for patients receiving preconception/fertility care

EXPERIMENTAL

This second arm is at reproductive endocrinology and infertility clinics (preconception arm)

Genetic: MyRisk Hereditary Cancer Test

Interventions

MyRisk Hereditary Cancer Test GENETIC

Subjects that are planning to proceed with OCS and enrolled in the trial will be contacted by the genetics clinician (by telephone or in person, based on subject preference) to review the option for HCS in addition to OCS. The WCM genetics clinician will review the potential risks and benefits, possible findings, and implications of findings for HCS. The genetics clinician will follow WCM standards (outlined by the WCM Genetics and Personalized Cancer Prevention Program https://wcinyp.org/GPCP) for informed consent counseling on the potential risks/benefits of HCS. The counseling regarding OCS will have already been performed by the obstetrical team as part of the standard of care. The genetics clinician will review that OCS is being performed as part of the patient's standard of care prenatal visit and HCS is an additional component that is being performed as part of participation in this clinical trial.

Collection of HCS and OCS for patients receiving obstetrical-related care; Collection of HCS and OCS for patients receiving preconception/fertility care

Eligibility Criteria

• Age: 18 Years - 55 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64)

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Weill Medical College of Cornell University: lead
• Myriad Genetics, Inc.: collaborator

Study Sites (5)

Reproductive Medicine

Brooklyn, New York, 11201, United States

RECRUITING

NewYork-Presbyterian Weill Cornell Medicine

Brooklyn, New York, 11215, United States

NOT YET RECRUITING

Reproductive Medicine

New York, New York, 10021, United States

RECRUITING

Weill Cornell Medicine

New York, New York, 10065, United States

RECRUITING

NewYork-Presbyterian Weill Cornell Medicine Queens

Queens, New York, 11355, United States

RECRUITING

Related Publications (20)

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• Offit K. The future of clinical cancer genomics. Semin Oncol. 2016 Oct;43(5):615-622. doi: 10.1053/j.seminoncol.2016.10.002. Epub 2016 Oct 18.

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MeSH Terms

Conditions

Neoplastic Syndromes, Hereditary

Condition Hierarchy (Ancestors)

Neoplasms; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Melissa Frey, MD, MS

  Weill Medical College of Cornell University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Steve Lopez, BA

CONTACT

9143127488; stl4013@med.cornell.edu

Ravi Sharaf, MD, MS

CONTACT

212-746-4014; ras9030@med.cornell.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: PREVENTION
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: The investigators are offering hereditary cancer screening genetic test to patients already receiving standard of care obstetric carrier screening.

Study Record Dates

• First Submitted: June 26, 2025
• First Posted: July 4, 2025
• Study Start: September 2, 2025
• Primary Completion (Estimated): June 1, 2027
• Study Completion (Estimated): December 1, 2028
• Last Updated: December 26, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

US (5)