Ignite Creation Date:
2025-12-24 @ 4:34 PM
Ignite Modification Date:
2025-12-27 @ 4:05 AM
Study NCT ID:
NCT07052266
Status:
RECRUITING
Last Update Posted:
2025-10-29
First Post:
2025-06-26
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Trial of Combined Obstetric Carrier Screening and Hereditary Cancer Screening
Sponsor:
Weill Medical College of Cornell University
Organization:
Study Overview
Official Title:
Feasibility of Obstetric and Cancer Universal Screening
Status:
RECRUITING
Status Verified Date:
2025-10
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
FOCUS
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.
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 Oversight
Has Oversight DMC:
False
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
False
Is an FDA AA801 Violation?: