Genetic Testing for Ovarian and Endometrial Cancer

(GTM-I Trial)

Overseen By Ashlyn Stevenson

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: Augusta University

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Approved in 3 Jurisdictions This treatment is already approved in other countries

Compensation: Varies

Number of Visits: 4

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial explores genetic testing for individuals with ovarian and endometrial cancer. The goal is to examine cancer genes in tumor and blood samples to understand their impact on these cancers. The trial focuses on the potential benefits of this testing for African American and Caucasian patients. It suits those recently diagnosed with ovarian, endometrial, fallopian, or primary peritoneal cancer who underwent a diagnostic procedure at AU Health Medical Center and can provide consent in English. As an unphased trial, this study offers a unique opportunity to contribute to groundbreaking research that could enhance cancer treatment for diverse populations.

Do I need to stop my current medications for this trial?

The trial protocol does not specify whether you need to stop taking your current medications.

Do I need to stop my current medications for this trial?

The trial information does not specify whether you need to stop taking your current medications. It is best to discuss this with the trial coordinators or your doctor.

What prior data suggests that genetic testing is safe for patients with ovarian and endometrial cancer?

Research has shown that genetic testing for ovarian and endometrial cancer is generally safe. These tests identify changes in specific genes, such as BRCA1 and BRCA2, which are linked to cancer. Typically, a blood sample or a small piece of tumor tissue is used for the tests. The process involves only the usual discomfort from a blood draw or biopsy.

Genetic testing is common in medical settings, and extensive data indicates that people handle it well. No evidence suggests that the testing process itself causes any serious side effects. Therefore, genetic testing can be expected to be a safe part of the study, with very little risk involved. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about genetic testing for ovarian and endometrial cancer because it offers a personalized approach to treatment. Unlike traditional treatments like surgery, chemotherapy, or radiation, this method analyzes the DNA of tumors to identify specific genetic mutations. This information can guide personalized treatment plans, potentially improving outcomes by targeting the cancer more precisely. Additionally, it can help identify patients who might benefit from genetic counseling, providing a more comprehensive care plan.

What evidence suggests that genetic testing is effective for ovarian and endometrial cancer?

Research shows that genetic testing, which participants in this trial will undergo, is crucial for patients with ovarian and endometrial cancer. Studies have found that genetic testing can identify harmful genetic changes, with a 12.5% chance of finding significant changes in cases of uterine serous carcinoma. Specifically, there is an 8.3% link to BRCA1/2 genes, which are known to increase cancer risk. For ovarian cancer, research indicates a 6.7% lifetime risk for those with certain genetic changes. Identifying these changes helps doctors make better treatment decisions and manage risks. Overall, genetic testing provides valuable insights into cancer risks and aids in creating personalized treatment plans. ^{1 2 3 5 6}

Are You a Good Fit for This Trial?

This trial is for African American and Caucasian adults over 18 with a new diagnosis of ovarian, endometrial, fallopian tube, or primary peritoneal cancer. They must have had diagnostic surgery at AU Health Medical Center and be able to give informed consent in English. Adequate tumor tissue from the surgery must be available for testing.

Inclusion Criteria

Consent at first post-biopsy outpatient clinic visit (typically about 2 weeks)

Diagnostic procedure performed at AU Health Medical Center

I have been newly diagnosed with ovarian, endometrial, fallopian tube, or primary peritoneal cancer.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2 weeks

1 visit (in-person)

Surgery/Biopsy

Surgery/biopsy will be performed to obtain ovarian and endometrial samples

1 day

1 visit (in-person)

Genetic Testing and Survey

Informed consent, demographics collection, and blood samples will be obtained. Subjects will complete a survey about knowledge of, attitudes towards, and awareness of genetic testing use.

1 week

1 visit (in-person)

DNA Preparation and Testing

Tumor/blood DNA preparation and genetic testing

4 weeks

Results and Counseling

Genetic test results will be released and uploaded in the EMR. If positive, genetic counseling will be scheduled.

1 day

1 visit (in-person)

Follow-up

Participants are monitored for safety and effectiveness after genetic testing

12 months

What Are the Treatments Tested in This Trial?

Interventions

• Genetic Testing
• Survey Administration

Trial Overview The study tests genetic material from tumors and blood samples of patients after their cancer surgery to identify any genetic factors associated with these cancers. It aims to understand barriers faced by minorities in accessing such genetic testing.

How Is the Trial Designed?

Group I: Study Time and Events Table Experimental Treatment 2 Interventions

Study Procedures are as followed: On Day 1 Surgery/biopsy will be performed to obtain ovarian and endometrial samples. Day 14 will include Informed consent, demographics collection and Blood samples will be obtained. Subjects will complete a survey about knowledge of, attitudes towards, and awareness of genetic testing use over 30 minutes on Day 14. Days 14-21 Tumor/blood DNA preparation. On Day 42 Genetic test results will be released and uploaded in the EMR. If the genetic testing is positive, genetic counseling will be scheduled.

Genetic Testing is already approved in United States, European Union, Canada for the following indications:

Approved in United States as Genetic Testing for:

• Ovarian cancer
• Endometrial cancer
• Breast cancer
• Colorectal cancer
• Other hereditary cancers

Approved in European Union as Genetic Testing for:

• Ovarian cancer
• Endometrial cancer
• Breast cancer
• Colorectal cancer
• Other hereditary cancers

Approved in Canada as Genetic Testing for:

• Ovarian cancer
• Endometrial cancer
• Breast cancer
• Colorectal cancer
• Other hereditary cancers

Who Is Running the Clinical Trial?

Augusta University

Lead Sponsor

Trials

219

Recruited

85,900+

Published Research Related to This Trial

Population-based BRCA1/BRCA2 testing in Ashkenazi Jews is more effective than traditional family history-based approaches, identifying over 50% more mutation carriers without causing psychological harm.

Advancements in genetic testing technology and computational analytics are paving the way for integrated systems medicine, which will enhance cancer prevention and personalized treatment strategies in gynecological oncology.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genetic screening for gynecological cancer: where are we heading? Manchanda, R., Jacobs, I.[2022]

A systematic follow-up of women diagnosed with gynaecological cancers revealed that a significant number (167 out of 462) did not attend genetic assessments, highlighting a gap in adherence to referral guidelines.

Improving genetic assessment attendance may require clinicians to enhance family history evaluations, ensure timely testing, and follow up with patients post-surgery, as only 1.5% and 6.1% of women attended genetic services after follow-up letters in two cohorts.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Improving attendance to genetic counselling services for gynaecological oncology patients. Pokharel, HP., Hacker, NF., Andrews, L.[2022]

A facilitated referral pathway for genetic counseling in newly-diagnosed ovarian cancer patients led to a high uptake, with 78 out of 100 patients receiving counseling and 73 undergoing genetic testing within a median of 34 days from diagnosis.

Despite initial stress and anxiety reported by patients during testing, quality of life improved significantly after 6 months, indicating that early genetic testing does not have a long-term negative psychological impact and is crucial for informing treatment decisions.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Facilitated referral pathway for genetic testing at the time of ovarian cancer diagnosis: uptake of genetic counseling and testing and impact on patient-reported stress, anxiety and depression. Frey, MK., Lee, SS., Gerber, D., et al.[2020]

All women diagnosed with epithelial ovarian cancer should undergo germline genetic testing for BRCA1/2 and other susceptibility genes to guide treatment options, based on a systematic review of 19 studies.

For women without germline BRCA1/2 variants, somatic tumor testing is recommended to identify any pathogenic variants, which can lead to FDA-approved treatment options, emphasizing the importance of personalized medicine in cancer care.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline. Konstantinopoulos, PA., Norquist, B., Lacchetti, C., et al.[2022]

A pilot study involving 40 women with newly diagnosed ovarian cancer showed that gynecologic oncologists directly offering genetic testing significantly increased the uptake of testing compared to traditional referral methods, where only 67% of patients completed testing.

The direct approach also reduced the time from diagnosis to receiving test results, with pilot participants receiving results in an average of 34 days compared to 53 days for those referred to genetics, indicating a more efficient process.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Streamlining genetic testing for women with ovarian cancer in a Northern California health care system. Powell, CB., Laurent, C., Ciaravino, G., et al.[2021]

Among women diagnosed with breast and ovarian cancer in California and Georgia, 24.1% of breast cancer patients and 30.9% of ovarian cancer patients underwent genetic testing, revealing a prevalence of actionable pathogenic variants in 7.8% of breast cancer patients and 14.5% of ovarian cancer patients.

Significant disparities were observed in genetic testing rates, particularly among black and uninsured patients with ovarian cancer, highlighting the need for targeted improvements in access to genetic testing for these populations.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients. Kurian, AW., Ward, KC., Howlader, N., et al.[2023]

The German Consortium on Hereditary Breast and Ovarian Cancer has established protocols for genetic testing that are tailored to the mutation frequencies in the German population, ensuring more relevant and effective pre- and post-test counseling for patients.

Feedback from a survey of 46 women indicated that most felt little regret about undergoing BRCA1/2 testing, but those with positive results faced more challenges in discussing their findings with family, highlighting the need for additional support for these individuals.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Women's experiences of undergoing BRCA1 and BRCA2 testing: organisation of the German Hereditary Breast and Ovarian Cancer Consortium Survey and Preliminary Data from Münster. Nippert, I., Schlegelberger, B.[2017]

Lynch syndrome significantly increases the risk of endometrial cancer in women, with up to 60% developing this type of cancer, highlighting the importance of early detection and screening.

Next-generation sequencing is becoming a valuable tool in diagnosing hereditary cancer syndromes like Lynch syndrome, but it presents challenges such as interpreting uncertain results and ensuring informed consent for patients.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Targeted Next-Generation Sequencing for Hereditary Cancer Syndromes: A Focus on Lynch Syndrome and Associated Endometrial Cancer. Tafe, LJ.[2015]

Genetic testing for hereditary predisposition to gynecologic cancers, particularly ovarian cancer, has advanced significantly since the 1990s, but its integration into routine clinical practice has lagged behind.

The article discusses the technical and practical challenges of implementing genetic testing in gynecologic cancers, highlighting barriers to access and suggesting potential solutions to improve its use in clinical settings.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Testing for Hereditary Predisposition in Patients with Gynecologic Cancers, Quo Vadis? Mitchell, G., Schrader, KA.[2022]

The Screenwide study enrolled over 800 women, including those with endometrial and ovarian cancers, BRCA1/2 and MMR pathogenic variant carriers, to evaluate new early detection strategies for gynecological cancers.

Preliminary results indicate that genetic variants in tumors can be effectively detected in minimally invasive samples, with high detection rates of 90% in endometrial aspirates, suggesting a promising approach for early cancer detection.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

An Integrated Approach for the Early Detection of Endometrial and Ovarian Cancers (Screenwide Study): Rationale, Study Design and Pilot Study. Peremiquel-Trillas, P., Paytubi, S., Pelegrina, B., et al.[2023]

Offering genetic counseling and testing to all patients with endometrial and ovarian cancer, rather than just those with a family history, is acceptable and can lead to important findings, as shown by a 10% mutation detection rate for BRCA1/2 in ovarian cancer patients.

The study revealed significant underreporting of family history by gynecologists (only 24% reported), highlighting the need for broader referral practices to ensure that more hereditary cancers are identified and managed effectively.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Acceptance of genetic counseling and testing in a hospital-based series of patients with gynecological cancer. Dekker, N., van Dorst, EB., van der Luijt, RB., et al.[2021]

Ovarian cancer is the deadliest gynecological cancer, and despite advancements in combination therapy, the prognosis remains poor, highlighting the need for better early detection methods.

Genetic testing for BRCA1 mutations can significantly improve early diagnosis and treatment outcomes for individuals at risk, particularly in families with a history of breast or ovarian cancer.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

[Genetic testing of BRCA1 for familial ovarian cancers]. Takano, M., Aida, H., Tsuneki, I., et al.[2006]

Citations

1. onclive.com onclive.com/view/molecular-testing-in-ovarian-and-endometrial-cancer-evolving-approaches-and-best-practices

Molecular Testing in Ovarian and Endometrial Cancer This OncLive Insights program focuses on optimizing outcomes in ovarian and endometrial cancer through the use of antibody-drug conjugates ...

2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC7812194/

Current practices on genetic testing in ovarian cancer Pooled data from four large hereditary cancer registries in Europe and the United States determined a 6.7% lifetime risk for ovarian cancer in proven or ...

3. ascopubs.org ascopubs.org/doi/10.1200/EDBK_350292

Genetic Testing for All: Overcoming Disparities in Ovarian ... We aim to review the current understanding of disparities in genetic testing for people with ovarian cancer, the role of population-based genetic testing,

4. sciencedirect.com sciencedirect.com/science/article/pii/S2352578924001772

Germline genetic testing reveals pathogenic variants in ... This testing yielded an overall pathogenic variant rate of 12.5 % for patients with USC, with 8.3 % associated with BRCA1/2. These findings in combination with ...

5. cancer.gov cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet

Genetic Testing Fact Sheet - NCI A fact sheet about genetic testing for inherited cancer risk. Includes who should consider testing, and how to understand test results.

6. ocrahope.org ocrahope.org/news/press-release-nearly-half-of-women-with-ovarian-cancer-are-not-receiving-critical-genetic-testing/

Nearly Half of Patients Don't Receive Genetic Testing Key findings of the OCRA analysis show that only 52% of women diagnosed with ovarian cancer between 2016 and 2023 received genetic testing, ...