Hereditary Cancer SyndromesFOCUSNCT07052266
Trial of Combined Obstetric Carrier Screening and Hereditary Cancer Screening
A study testing MyRisk Hereditary Cancer Test in people with Hereditary Cancer Syndromes, run by Weill Medical College of Cornell University at 5 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 55 years, women only
- Conditions the study is for
- Hereditary Cancer Syndromes
- What is being tested?
- MyRisk Hereditary Cancer Test
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 550 participants
- Where
- 5 sitesUnited States
- Study dates
- 2 Sep 2025to Dec 2028
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
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
- No healthy volunteers
- Adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
5 sites in 1 country. Contact the study team or a site near you to ask about taking part.
5 sites in 1 country
United States5 sites, 5 recruiting
- Recruiting
Reproductive Medicine
Brooklyn, New York, 11201
Joshua D. Stewart, MD, 6469623868, jds9013@med.cornell.edu
- Not yet recruiting
NewYork-Presbyterian Weill Cornell Medicine
Brooklyn, New York, 11215
Denise Howard, MD, MPH, 7183623260, Deh3002@med.cornell.edu
- Recruiting
Reproductive Medicine
New York, New York, 10021
Alexis Melnick, MD, 6469627650, alm2036@med.cornell.edu
- Recruiting
Weill Cornell Medicine
New York, New York, 10065
Elise Barrow, MPH, 6466976621, ecb4001@med.cornell.edu
Steve Lopez, BA, 9143127488, stl4013@med.cornell.edu
- Recruiting
NewYork-Presbyterian Weill Cornell Medicine Queens
Queens, New York, 11355
Julia Cron, MD, FACOG, 6469622620, Jac4017@med.cornell.edu
About this study
Official title: Feasibility of Obstetric and Cancer Universal Screening
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.
Read the 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.
- Conditions
- Hereditary Cancer Syndromes
- Being tested
- MyRisk Hereditary Cancer Test
- Keywords
- Genetic Testing, Carrier Screening, Prenatal Screening, Reproductive Genetic Testing, Feasibility Study, Universal Screening
- 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.
MyRisk Hereditary Cancer TestGenetic
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.
| Study group | Role | What they receive |
|---|---|---|
| Collection of HCS and OCS for patients receiving obstetrical-related care | Experimental | The first arm is for an obstetrical/prenatal (standard arm) setting Receives: 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) Receives: Genetic: MyRisk Hereditary Cancer Test |
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
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
Measured: 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
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.
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: From completion of screening up to 18 months post-screening
Participant Experience with Combined HCS and OCS measured by the NCCN Distress Thermometer
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.
Measured: 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
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.
Measured: 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
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.
Measured: The questionnaire is received right after genetic counseling regarding HCS has been received.
Participant Experience with Combined HCS and OCS - Qualitative Interview
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.
Measured: From completion of screening up to 18 months post-screening
Provider Experience with Combined HCS and OCS - Qualitative Interview
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.
Measured: From completion of screening up to 18 months post-screening
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Jul 2025
- Study start2 Sep 2025
- Primary completionJun 2027 (estimated)
- Study completionDec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (20)Papers the sponsor has linked to this study.
- Other trials for Hereditary Cancer SyndromesStudies of the same condition, open and under way.
- More trials run by Weill Medical College of Cornell 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Prevention
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- The investigators are offering hereditary cancer screening genetic test to patients already receiving standard of care obstetric carrier screening.
- Masking
- None (open label)
- Enrolment
- 550 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Weill Medical College of Cornell University
- Sponsor type
- University, hospital or other
- Collaborators
- Myriad Genetics, Inc.
- Responsible party
- Sponsor
- Investigators
- Melissa Frey, MD, MS, Principal investigator, Weill Medical College of Cornell University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07052266
- Sponsor's protocol ID
- 25-02028559
- Acronym
- FOCUS
- Status last verified
- Dec 2025
- First submitted
- 26 Jun 2025
- Last updated
- 26 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Palinkas LA, Horwitz SM, Green CA, Wisdom JP, Duan N, Hoagwood K. Purposeful Sampling for Qualitative Data Collection and Analysis in Mixed Method Implementation Research. Adm Policy Ment Health. 2015 Sep;42(5):533-44. doi: 10.1007/s10488-013-0528-y.
PubMed 24193818Kaphingst 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.
PubMed 35495140Dioun 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.
PubMed 38621481Grant 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.
PubMed 39306315Zhong 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.
PubMed 37214524Edwards 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.
PubMed 25730230Goldberg JD, Pierson S, Johansen Taber K. Expanded carrier screening: What conditions should we screen for? Prenat Diagn. 2023 Apr;43(4):496-505. doi: 10.1002/pd.6306. Epub 2023 Jan 18.
PubMed 36624552Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet Gynecol. 2017 Mar;129(3):e41-e55. doi: 10.1097/AOG.0000000000001952.
PubMed 28225426ACOG Committee Opinion No. 752: Prenatal and Perinatal Human Immunodeficiency Virus Testing. Obstet Gynecol. 2018 Sep;132(3):e138-e142. doi: 10.1097/AOG.0000000000002825.
PubMed 30134428Pazol K, Robbins CL, Black LI, Ahrens KA, Daniels K, Chandra A, Vahratian A, Gavin LE. Receipt of Selected Preventive Health Services for Women and Men of Reproductive Age - United States, 2011-2013. MMWR Surveill Summ. 2017 Oct 27;66(20):1-31. doi: 10.15585/mmwr.ss6620a1.
PubMed 29073129Lin J, Sharaf RN, Saganty R, Ahsan D, Feit J, Khoury A, Bergeron H, Chapman-Davis E, Cantillo E, Holcomb K, Blank SV, Liu Y, Thomas C, Christos PJ, Wright DN, Lipkin S, Offit K, Frey MK. Achieving universal genetic assessment for women with ovarian cancer: Are we there yet? A systematic review and meta-analysis. Gynecol Oncol. 2021 Aug;162(2):506-516. doi: 10.1016/j.ygyno.2021.05.011. Epub 2021 May 19.
PubMed 34023131Guzauskas GF, Garbett S, Zhou Z, Schildcrout JS, Graves JA, Williams MS, Hao J, Jones LK, Spencer SJ, Jiang S, Veenstra DL, Peterson JF. Population Genomic Screening for Three Common Hereditary Conditions : A Cost-Effectiveness Analysis. Ann Intern Med. 2023 May;176(5):585-595. doi: 10.7326/M22-0846. Epub 2023 May 9.
PubMed 37155986Offit 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.
PubMed 27899195Gabai-Kapara E, Lahad A, Kaufman B, Friedman E, Segev S, Renbaum P, Beeri R, Gal M, Grinshpun-Cohen J, Djemal K, Mandell JB, Lee MK, Beller U, Catane R, King MC, Levy-Lahad E. Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci U S A. 2014 Sep 30;111(39):14205-10. doi: 10.1073/pnas.1415979111. Epub 2014 Sep 5.
PubMed 25192939Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, Mukherjee S, Ravichandran V, Cambria R, Galle J, Abida W, Arcila ME, Benayed R, Shah R, Yu K, Bajorin DF, Coleman JA, Leach SD, Lowery MA, Garcia-Aguilar J, Kantoff PW, Sawyers CL, Dickler MN, Saltz L, Motzer RJ, O'Reilly EM, Scher HI, Baselga J, Klimstra DS, Solit DB, Hyman DM, Berger MF, Ladanyi M, Robson ME, Offit K. Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. JAMA. 2017 Sep 5;318(9):825-835. doi: 10.1001/jama.2017.11137.
PubMed 28873162
Study at a glance
From the registry record, last updated by the sponsor on 26 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Feasibility of Obstetric and Cancer Universal Screening
- ClinicalTrials.gov ID
- NCT07052266
- Acronym / sponsor ID
- FOCUS / 25-02028559
- Conditions
- Hereditary Cancer Syndromes
- Keywords
- Genetic Testing, Carrier Screening, Prenatal Screening, Reproductive Genetic Testing, Feasibility Study, Universal Screening
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 550 participants (estimated)
- Lead sponsor
- Weill Medical College of Cornell UniversityUniversity, hospital or other
- Collaborators
- Myriad Genetics, Inc.
- Study start
- 2 Sep 2025 (actual)
- Primary completion
- Jun 2027 (estimated)
- Study completion
- Dec 2028 (estimated)
- First posted
- 4 Jul 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Primary purpose
- Prevention
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- The investigators are offering hereditary cancer screening genetic test to patients already receiving standard of care obstetric carrier screening.
| Arm | Type | Receives |
|---|---|---|
| Collection of HCS and OCS for patients receiving obstetrical-related care | Experimental | Genetic: MyRisk Hereditary Cancer TestThe first arm is for an obstetrical/prenatal (standard arm) setting |
| Collection of HCS and OCS for patients receiving preconception/fertility care | Experimental | Genetic: MyRisk Hereditary Cancer TestThis second arm is at reproductive endocrinology and infertility clinics (preconception arm) |
Who may qualify
- Ages
- 18 to 55 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| MyRisk Hereditary Cancer TestSubjects 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. | Genetic | Collection of HCS and OCS for patients receiving obstetrical-related care, Collection of HCS and OCS for patients receiving preconception/fertility care |
Primary outcome
Percentage of Participants Who Complete Both HCS and OCS
Time frame: 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
7 secondary outcomes
Percentage of Participants Completing Both HCS and OCS, Stratified by Demographic and Clinical Characteristics
Time frame: Approximately at the end of recruitment, expected at 2 years.
Percentage of High-Risk Participants Utilizing Guideline-Based Cancer Mitigation Strategies
Time frame: From completion of screening up to 18 months post-screening
Participant Experience with Combined HCS and OCS measured by the NCCN Distress Thermometer
Time frame: 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
Time frame: 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
Time frame: The questionnaire is received right after genetic counseling regarding HCS has been received.
Participant Experience with Combined HCS and OCS - Qualitative Interview
Time frame: From completion of screening up to 18 months post-screening
Provider Experience with Combined HCS and OCS - Qualitative Interview
Time frame: From completion of screening up to 18 months post-screening
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Dec 2025.
- Background: PubMed 24193818Palinkas LA, Horwitz SM, Green CA, Wisdom JP, Duan N, Hoagwood K. Purposeful Sampling for Qualitative Data Collection and Analysis in Mixed Method Implementation Research. Adm Policy Ment Health. 2015 Sep;42(5):533-44. doi: 10.1007/s10488-013-0528-y.
- Background: PubMed 35495140Kaphingst 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.
- Background: PubMed 38621481Dioun 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.
- Background: PubMed 39306315Grant 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.
- Background: PubMed 37214524Zhong 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.
- Background: PubMed 25730230Edwards 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.
- Background: PubMed 36624552Goldberg JD, Pierson S, Johansen Taber K. Expanded carrier screening: What conditions should we screen for? Prenat Diagn. 2023 Apr;43(4):496-505. doi: 10.1002/pd.6306. Epub 2023 Jan 18.
- Background: PubMed 28225426Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet Gynecol. 2017 Mar;129(3):e41-e55. doi: 10.1097/AOG.0000000000001952.
- Background: PubMed 30134428ACOG Committee Opinion No. 752: Prenatal and Perinatal Human Immunodeficiency Virus Testing. Obstet Gynecol. 2018 Sep;132(3):e138-e142. doi: 10.1097/AOG.0000000000002825.
- Background: PubMed 29073129Pazol K, Robbins CL, Black LI, Ahrens KA, Daniels K, Chandra A, Vahratian A, Gavin LE. Receipt of Selected Preventive Health Services for Women and Men of Reproductive Age - United States, 2011-2013. MMWR Surveill Summ. 2017 Oct 27;66(20):1-31. doi: 10.15585/mmwr.ss6620a1.
- Background: PubMed 34023131Lin J, Sharaf RN, Saganty R, Ahsan D, Feit J, Khoury A, Bergeron H, Chapman-Davis E, Cantillo E, Holcomb K, Blank SV, Liu Y, Thomas C, Christos PJ, Wright DN, Lipkin S, Offit K, Frey MK. Achieving universal genetic assessment for women with ovarian cancer: Are we there yet? A systematic review and meta-analysis. Gynecol Oncol. 2021 Aug;162(2):506-516. doi: 10.1016/j.ygyno.2021.05.011. Epub 2021 May 19.
- Background: PubMed 37155986Guzauskas GF, Garbett S, Zhou Z, Schildcrout JS, Graves JA, Williams MS, Hao J, Jones LK, Spencer SJ, Jiang S, Veenstra DL, Peterson JF. Population Genomic Screening for Three Common Hereditary Conditions : A Cost-Effectiveness Analysis. Ann Intern Med. 2023 May;176(5):585-595. doi: 10.7326/M22-0846. Epub 2023 May 9.
- Individual participant dataSharing planned: No
Related trials for Hereditary Cancer Syndromes
Active, not recruitingPhase 1/2
Selumetinib in Treating Young Patients With Recurrent or Refractory Low Grade Glioma
Low Grade Glioma, Recurrent Childhood Pilocytic Astrocytoma
RecruitingObservational study
Blood, Urine, and Tissue Collection for Cutaneous Lymphoma, Eczema, and Atopic Dermatitis Research
Cutaneous T-cell Lymphoma, Sezary Syndrome
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
Not yet recruitingObservational study
Clinical Genetics Branch Eligibility Screening Survey
Melanoma, Li-Fraumeni Syndrome
Not yet recruiting
Reduce All Avoidable Cancer-promoting Exposures in Individuals at High Genetic Risk of Cancer Carrying a Constitutional Variant of the TP53 Gene
Adult Carriers of a Pathogenic or Probably Pathogenic (Class 4 and 5) Germline Variation in the TP53 Gene
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Melissa Frey, MD, MS principal investigator
Weill Medical College of Cornell University
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing MyRisk Hereditary Cancer Test in people with Hereditary Cancer Syndromes, run by Weill Medical College of Cornell University at 5 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 26 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Steve Lopez, BA (9143127488, stl4013@med.cornell.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Percentage of Participants Who Complete Both HCS and OCS (time frame: Approximately within the end of recruitment expected at 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07052266, which also lists 20 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Dec 2025.