Genetic Testing for Cancer Risk

Overseen By Sarah Lee

Age: 18 - 65

Sex: Female

Trial Phase: Academic

Sponsor: NYU Langone Health

Disqualifiers: Ovarian cancer, Germline testing, others

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

Compensation: Varies

Number of Visits: Unknown

600 Participants Needed

Trial Summary

What is the purpose of this trial?

The purpose of this research study is to see if offering genetic testing for cancer-related genes is feasible and acceptable for patients presenting for gynecology clinic visits, instead of needing to see specialized providers or needing to meet specific criteria. The primary aim to assess the proportion of patients who undergo genetic testing, and the proportion of patients with pathogenic variants.

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.

How does the Natera® Empower™ hereditary cancer panel test differ from other treatments for cancer risk?

The Natera® Empower™ hereditary cancer panel test is unique because it focuses on genetic testing to assess cancer risk, rather than treating cancer directly. This approach helps identify individuals at higher risk for hereditary cancers, allowing for personalized monitoring and preventive strategies, unlike traditional treatments that target existing cancer. ^{1 2 3 4 5}

Research Team

Bhavana Pothuri, MD, MS

Principal Investigator

NYU Langone Health

Eligibility Criteria

This trial is for patients visiting gynecology clinics who are interested in genetic testing to assess their cancer risk. It aims to determine if this testing can be done effectively without the need for specialized providers or meeting specific criteria.

Inclusion Criteria

I am a woman aged between 25 and 39.

Receive gynecologic care at an affiliated NYU Langone Health (NYULH) site listed in this protocol.

Exclusion Criteria

I have had ovarian, fallopian tube, peritoneal, or uterine cancer.

I have had both my ovaries and fallopian tubes surgically removed.

Visit related to pregnancy or immediately postpartum (within 2 weeks)

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Genetic Testing

Participants undergo point-of-care genetic testing by saliva test

Up to 9 months

Follow-up

Participants are monitored for the presence of pathogenic variants and referred to specialists if necessary

Up to 9 months

Treatment Details

Interventions

• Natera® Empower™ hereditary cancer panel test

Trial Overview The study is evaluating the Natera® Empower™ hereditary cancer panel test, which checks for genes related to cancer risk. Participants will also be referred to specialists if needed. The focus is on how many people get tested and how many have gene variants linked to cancer.

Participant Groups

Group I: Completed genetic screening test Experimental Treatment 2 Interventions

Participants will complete point-of-care genetic testing by saliva test. Participants with actionable pathogenic variants will be referred to the appropriate specialists to discuss risk-reduction strategies and offered genetic counseling. All Participants will be given the opportunity for genetic counseling, and if interested and desired this will be facilitated by the research team.

Group II: Denied genetic screening test Active Control 1 Intervention

Participants in this arm have declined the genetic screening test.

Who Is Running the Clinical Trial?

NYU Langone Health

Lead Sponsor

Trials

1,431

Recruited

838,000+

Findings from Research

Self-collected cervico-vaginal swabs showed a higher positivity rate for high-risk HPV (76%) compared to provider-collected samples (70%), indicating that self-collection could enhance cervical cancer screening coverage.

HPV-16 was the most prevalent genotype in both sample types and had the highest positive predictive value for detecting cervical intraepithelial neoplasia (CIN) grade 2 or higher, suggesting that while self-collection is effective, it may lead to increased referrals for colposcopy due to higher HPV-16 detection rates.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Extended HPV Genotyping to Compare HPV Type Distribution in Self- and Provider-Collected Samples for Cervical Cancer Screening. Rohner, E., Edelman, C., Sanusi, B., et al.[2021]

References

1. England pubmed.ncbi.nlm.nih.gov

Human papillomavirus detection using the Abbott RealTime high-risk HPV tests compared with conventional nested PCR coupled to high-throughput sequencing of amplification products in cervical smear specimens from a Gabonese female population. [2018]

2. England pubmed.ncbi.nlm.nih.gov

Self-sampling of the vaginal fluid at home combined with high-risk HPV testing. [2022]

3. United States pubmed.ncbi.nlm.nih.gov

Evaluation of a Novel Single-Tube Method for Extended Genotyping of Human Papillomavirus. [2022]

4. United States pubmed.ncbi.nlm.nih.gov

Extended HPV Genotyping to Compare HPV Type Distribution in Self- and Provider-Collected Samples for Cervical Cancer Screening. [2021]

5. England pubmed.ncbi.nlm.nih.gov

Comparison of the AmpFire® Multiplex HPV Assay to the Xpert® HPV Assay for detection of human papillomavirus and cervical disease in women with human immunodeficiency virus: a pragmatic performance evaluation. [2023]