Trial of Combined Obstetric Carrier Screening and Hereditary Cancer Screening

Not Applicable

Not yet recruiting

• Conditions: Hereditary Cancer Syndromes

• Registration Number: NCT07052266
• Lead Sponsor: Weill Medical College of Cornell University

Brief Summary

The investigators hypothesize that pregnancy may be a feasible and effective time to offer inherited cancer risk screening. This study will assess interest in cancer genetic testing among pregnant patients receiving routine prenatal 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.

Detailed Description

The purpose of this study is to prospectively offer obstetric patients combined hereditary cancer screening (HCS) and obstetric carrier screening (OCS) to see if patients decide they want HCS in addition to their OCS. Preconception and pregnancy represent a unique window of opportunity for women to engage and interact with the healthcare system. With the proposed trial, the investigators aim to change the paradigm of obstetrical-related genetic testing to include potentially life-saving HCS.

Approximately 25% of the general population in the U.S. meets established criteria to recommend genetic counseling and testing for hereditary cancer syndromes, but less than 1% of individuals undergo genetic testing. Furthermore, racial, ethnic, and linguistic minorities experience even greater under-recognition of familial cancer syndromes.This results in a critical missed opportunity for preventing cancer-associated morbidity and mortality. Obstetric care is a potential window of opportunity for addressing this issue, as pregnancy offers a unique opportunity for individuals to interact with the healthcare system. Importantly, patients are already being introduced to the topics of genetic testing and counseling, as the American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant women receive information regarding carrier screening. The uptake of OCS to evaluate hundreds of disorders is increasing rapidly, with a recent meta-analysis finding that 39% of patients undergo such testing. Currently, however, most cancer-associated mutations are not included in OCS assays. Screening reproductive-age women presents a unique opportunity to perform testing at a time when precancer screening, chemoprevention, and/or risk-reducing surgery is most beneficial.

Limited prior literature suggests that 50-75% of patients would accept combined HCS/OCS if offered. The investigators offered hereditary cancer risk assessment to 100 obstetrical patients in a diverse, Medicaid-predominant Weill Cornell Medicine clinic and found that 66% of patients were interested in cancer risk assessment during pregnancy. Furthermore, the investigators recently published a cost-effectiveness analysis suggesting that incorporation of BRCA1 genetic testing to all patients, regardless of family history at the time of OCS, is a cost-effective management strategy that can result in the prevention of breast and ovarian cancer cases and cancer deaths. Additionally, patient interviews suggest that more than 50% of patients mistakenly believed their OCS included cancer genes. This misconception poses a significant risk, as these patients assume that they had comprehensive testing and no hereditary cancer risk. Therefore, additional testing was believed to be unnecessary. Finally, prior theoretical patient surveys suggest high levels of interest in this combination testing among ethnically diverse populations. However, there has yet to be a prospective study offering patients the combined HCS/OCS, and all reported interests remain theoretical.

Study Timeline

• Status Verified: 2025-06
• Study First Submitted: 2025-06-26
• Study First Submitted QC: 2025-06-26
• Last Update Submitted: 2025-06-26
• Study Start: 2025-07-01
• Study First Posted: 2025-07-04
• Last Update Posted: 2025-07-04
• Primary Completion: 2027-06
• Study Completion: 2028-12-01

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: Female
• Target Recruitment: 350

Inclusion Criteria

• Age 18 years - 55 years
• Pregnant patients receiving obstetrical-related care at a WCM-affiliated enrollment site: WCM / NewYork-Presbyterian Hospital - Manhattan campus WCM / NewYork-Presbyterian Hospital - Lower Manhattan Hospital NewYork-Presbyterian Brooklyn Methodist Hospital NewYork-Presbyterian - Queens
• 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

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 & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Percentage of Participants Who Complete Both HCS and OCS	Approximately within the end of recruitment expected at 2 years	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

Secondary Outcome Measures

Name	Time	Method
Percentage of Participants Completing Both HCS and OCS, Stratified by Demographic and Clinical Characteristics	Approximately at the end of recruitment, expected at 2 years.	The percentage of participants who complete both HCS and OCS, stratified by patient race, ethnicity, language, gestational age, insurance provider, personal cancer history, and family cancer history. Completion is defined as having documented results for both screenings.
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 will be assessed using a validated Satisfaction with Genetic Counseling Scale. It is a 10-item Likert scale (1-5) assessing satisfaction with counseling, including both positively and negatively worded items (reverse-scored). Total scores range from 10 to 50, with higher scores indicating greater satisfaction.
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.	Participant experience with combined HCS and OCS will be assessed using a validated Satisfaction with Decision Scale. It is a 6-item Likert scale (1-5) measuring satisfaction with the decision to undergo genetic testing. Scores range from 6 to 30; higher scores indicate greater satisfaction.
Provider Experience with Combined HCS and OCS - Qualitative Interview	From completion of screening up to 18 months post-screening	This qualitative outcome measure assesses providers' experiences with the implementation and delivery of combined HCS and OCS through a semi-structured interview. Themes explored include prior experiences discussing genetic testing during obstetrical visits, perceptions of screening timing and appropriateness during pregnancy, challenges encountered, and suggestions for improving the screening process. Interviews will be audio-recorded, transcribed, and thematically analyzed.
Percentage of High-Risk Participants Utilizing Guideline-Based Cancer Mitigation Strategies	From completion of screening up to 18 months post-screening	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.
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 will be assessed using a National Comprehensive Cancer Network (NCCN) validated scale called the Distress Thermometer. It is a single-item scale ranging from 0 (no distress) to 10 (extreme distress). A lower score indicates less distress, while a higher score signifies greater distress.
Participant Experience with Combined HCS and OCS - Qualitative Interview	From completion of screening up to 18 months post-screening	A subset of participants will complete a semi-structured interview to explore their experiences with being offered hereditary cancer screening alongside obstetrical carrier screening. Interview topics include perceptions of how screening information was presented, reasons for accepting or declining genetic testing, challenges faced in the decision-making and testing process, and suggestions for improving the patient experience. Interviews will be audio-recorded with consent, transcribed, and analyzed using thematic analysis.

Trial Locations

Locations (3)

NewYork-Presbyterian Weill Cornell Medicine; 🇺🇸 Brooklyn, New York, United States

Weill Cornell Medicine; 🇺🇸 New York, New York, United States

NewYork-Presbyterian Weill Cornell Medicine Queens; 🇺🇸 Queens, New York, United States