Trial of Combined Obstetric Carrier Screening and Hereditary Cancer Screening
NCT ID: NCT07052266
Last Updated: 2025-12-26
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
NA
550 participants
INTERVENTIONAL
2025-09-02
2028-12-31
Brief Summary
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Detailed Description
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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.
Conditions
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Keywords
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Study Design
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NA
SINGLE_GROUP
PREVENTION
NONE
Study Groups
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Collection of HCS and OCS for patients receiving obstetrical-related care
The first arm is for an obstetrical/prenatal (standard arm) setting
MyRisk Hereditary Cancer Test
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 preconception/fertility care
This second arm is at reproductive endocrinology and infertility clinics (preconception arm)
MyRisk Hereditary Cancer Test
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.
Interventions
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MyRisk Hereditary Cancer Test
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.
Eligibility Criteria
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Inclusion Criteria
* 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
Exclusion Criteria
* Patients who have a hematologic cancer or hematologic pre-cancer
* Patients who have a history of an autologous bone marrow transplant
18 Years
55 Years
FEMALE
No
Sponsors
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Myriad Genetics, Inc.
INDUSTRY
Weill Medical College of Cornell University
OTHER
Responsible Party
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Principal Investigators
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Melissa Frey, MD, MS
Role: PRINCIPAL_INVESTIGATOR
Weill Medical College of Cornell University
Locations
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Reproductive Medicine
Brooklyn, New York, United States
NewYork-Presbyterian Weill Cornell Medicine
Brooklyn, New York, United States
Reproductive Medicine
New York, New York, United States
Weill Cornell Medicine
New York, New York, United States
NewYork-Presbyterian Weill Cornell Medicine Queens
Queens, New York, United States
Countries
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Central Contacts
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Facility Contacts
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Joshua D. Stewart, MD
Role: primary
Denise Howard, MD, MPH
Role: primary
Alexis Melnick, MD
Role: primary
Elise Barrow, MPH
Role: primary
Steve Lopez, BA
Role: backup
Julia Cron, MD, FACOG
Role: primary
References
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Kaphingst KA, Bather JR, Daly BM, Chavez-Yenter D, Vega A, Kohlmann WK. Interest in Cancer Predisposition Testing and Carrier Screening Offered as Part of Routine Healthcare Among an Ethnically Diverse Sample of Young Women. Front Genet. 2022 Apr 14;13:866062. doi: 10.3389/fgene.2022.866062. eCollection 2022.
Dioun SM, Perez LR, Prabhu M, Brewer JT, Ahsan MD, Hou JY, Sharaf RN, Wright JD, Frey MK. Cost-effectiveness of BRCA1 testing at time of obstetrical prenatal carrier screening for cancer prevention. Am J Obstet Gynecol. 2024 Sep;231(3):330.e1-330.e14. doi: 10.1016/j.ajog.2024.04.014. Epub 2024 Apr 14.
Grant BJ, Chandler I, Son M, Dioun S, Mcdougale A, Sharaf RN, Frey MK. Pregnancy: an underutilized window of opportunity for genetic cancer risk assessment. Am J Obstet Gynecol. 2025 Jan;232(1):e11-e13. doi: 10.1016/j.ajog.2024.09.100. Epub 2024 Sep 19. No abstract available.
Zhong L, Bather JR, Daly BM, Kohlmann WK, Goodman MS, Rothwell E, Kaphingst KA. Investigation of interest in and timing preference for cancer predisposition testing and expanded carrier screening among women of reproductive age. PEC Innov. 2023 Jan 24;2:100128. doi: 10.1016/j.pecinn.2023.100128. eCollection 2023 Dec.
Edwards JG, Feldman G, Goldberg J, Gregg AR, Norton ME, Rose NC, Schneider A, Stoll K, Wapner R, Watson MS. Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine. Obstet Gynecol. 2015 Mar;125(3):653-662. doi: 10.1097/AOG.0000000000000666.
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Other Identifiers
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25-02028559
Identifier Type: -
Identifier Source: org_study_id