Genetic Testing for Cancer Prevention

Overseen By Clinical Trials Referral Office

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: Mayo Clinic

Disqualifiers: Under 18, Prisoners, others

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: Unknown

300 Participants Needed

Trial Summary

What is the purpose of this trial?

This clinical trial is studying the genetic changes in cells associated with different types of cancer in Indigenous American (IA) populations in the Southwest to improve cancer screening, precision prevention, and therapeutic intervention for individual in these communities. IA tribes have much lower rates of cancer screening, have more limited access to healthcare, are more often diagnosed at later stages of disease, and have the poorest outcomes in all types of cancer when compared to any other racial and ethnic group in the United States. Due to these significant cancer health disparities, IAs have been understudied and little is known about the molecular characterization of tumors arising in IAs. Undergoing genetic testing of tumors may improve cancer outcomes in IA participants and communities.

Will I have to stop taking my current medications?

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

What data supports the effectiveness of genetic testing as a treatment for cancer prevention?

Genetic testing can help identify individuals at high risk for certain cancers, allowing for targeted screening and prevention strategies, which can lead to better outcomes. It is part of good medical practice for some cancers and can guide decisions to avoid ineffective treatments, ultimately benefiting patients and reducing healthcare costs. ^{1 2 3 4 5}

Is genetic testing for cancer prevention safe for humans?

Genetic testing is generally safe, but there are concerns about the potential for misinterpretation of results and adverse psychological effects. It's important to have genetic counseling to help understand the results and their implications. ^{1 6 7 8 9}

How is genetic testing for cancer prevention different from other treatments?

Genetic testing for cancer prevention is unique because it identifies individuals at risk of developing cancer before symptoms appear, allowing for personalized prevention and early detection strategies. Unlike traditional treatments that address cancer after it develops, genetic testing focuses on assessing risk and guiding preventive measures tailored to an individual's genetic profile. ^{1 3 10 11 12}

Research Team

Jewel Samadder, MD

Principal Investigator

Mayo Clinic

Eligibility Criteria

This trial is for Indigenous American individuals from the Southwest who are affected by cancer. It aims to study genetic changes in their cells to enhance cancer screening and treatment outcomes within these communities, which face significant health disparities.

Inclusion Criteria

I am currently receiving cancer treatment or have survived cancer.

Self-identify as Indigenous American

Exclusion Criteria

I am unable to understand and give consent for treatment.

Prisoners

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Sample Collection and Genetic Testing

Participants undergo collection of blood or saliva samples and leftover tissue for genetic testing. Results are returned with resources for counseling and further care.

Ongoing during study participation

Follow-up

Participants are monitored annually for up to 5 years to assess outcomes and provide ongoing support.

Up to 5 years

Annual visits

Treatment Details

Interventions

• Genetic Testing

Trial Overview The JUNIPER Trial involves survey administration, genetic testing of tumors, biospecimen collection, and a communication intervention to understand how these approaches can help prevent and treat cancer more effectively in Indigenous American populations.

Participant Groups

Group I: Screening (blood, saliva, tissue collection, genetic testing) Experimental Treatment 4 Interventions

Patients undergo collection of blood or saliva samples on study for genetic testing. Patients also undergo collection of leftover tissue obtained from SOC surgical procedure or biopsy, or stored tissue samples for genetic testing on study. Patients receive the results of their genetic testing and are given resources for counseling and further care.

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?

Mayo Clinic

Lead Sponsor

Trials

3,427

Recruited

3,221,000+

National Cancer Institute (NCI)

Collaborator

Trials

14,080

Recruited

41,180,000+

Findings from Research

Recent advancements in cancer molecular genetics have made genetic testing feasible, allowing individuals at risk to receive personalized cancer screening and prevention strategies.

Genetic counseling is crucial for interpreting test results and managing the psychosocial impacts of genetic risk assessments, ensuring patients understand the implications of their results in relation to their cancer experiences.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genetic testing. Petersen, GM.[2019]

Genetic testing plays a crucial role in screening, diagnosing, and guiding drug therapy for diseases with a genetic basis, but there are challenges in its widespread clinical application due to the limited number of actionable genetic variants.

To enhance the use of genetic information in healthcare, there is a need for improved health literacy among providers and the public, as well as addressing ethical and social issues related to genetic testing.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genetic Testing in Clinical Settings. Franceschini, N., Frick, A., Kopp, JB.[2019]

Genetic testing for cancer risk has advanced significantly, allowing for targeted cancer screening and prevention strategies for individuals with identified genetic predispositions, which is now considered good medical practice in many cases.

However, the benefits of genetic testing can vary, necessitating careful evaluation of its costs and benefits, as well as the effectiveness of any subsequent interventions, highlighting the need for structured systems to manage testing demand and educate the public and healthcare providers.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Costs, benefits and limitations of genetic testing for cancer risk. Ponder, BA.[2009]

Genomic testing in cancer care helps identify the most effective treatment options for individual patients, potentially ruling out unnecessary chemotherapy, which can be costly and not suitable for everyone.

By ensuring that treatments are tailored to the patient's specific genetic profile, genomic testing can improve patient outcomes while also reducing overall healthcare costs and resource utilization.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genomic testing in oncology to improve clinical outcomes while optimizing utilization: the evolution of diagnostic testing. Collymore, DC., Kobilis, SL., Lundquist, TG., et al.[2017]

The introduction of a highly predictive genetic test for breast cancer could complicate ongoing prevention trials by increasing noncompliance among participants, but it also opens up opportunities to design new trials focused on individuals at very high risk of developing cancer.

These new trial designs could potentially reduce the size, duration, and cost of cancer prevention studies, while emphasizing the continued importance of randomized trials for evaluating effective prevention strategies.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Potential impact of genetic testing on cancer prevention trials, using breast cancer as an example. Baker, SG., Freedman, LS.[2019]

Genetic tests are popular among consumers, but they come with significant uncertainties and potential inaccuracies, which insurers are cautious about.

Positive results from these tests can trigger a series of costly and possibly risky follow-up diagnostic procedures, raising concerns about their overall value and safety.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Taming the Gene Genie. Greene, J.[2018]

Genetic testing for cancer-predisposition genes can predict future health risks, benefiting not only individuals but also their families by providing crucial health information.

The implications of genetic testing extend beyond medicine, raising important ethical and social issues such as informed consent, confidentiality, and potential genetic discrimination.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Controversies and ethical issues in cancer-genetics clinics. Harris, M., Winship, I., Spriggs, M.[2014]

Genetic testing has become a key tool in personalized medicine, allowing for the identification of mutations that increase cancer risk and enabling tailored strategies to minimize these risks.

The advancements in genetic testing technology since the Human Genome Project have improved the ability to test more patients for cancer predispositions, highlighting the need for healthcare professionals to be knowledgeable about genetics to ensure safe and effective use of these tests.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Advances in Genetic Testing for Hereditary Cancer Syndromes. Thomas, E., Mohammed, S.[2016]

Genetic screening for disease predisposition is becoming more common due to advancements in technology, offering valuable insights into individual health risks.

However, there are significant concerns about the potential misuse of genetic information by employers and insurance companies, leading to calls for legal protections to prevent discrimination based on genetic data.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genetic information privacy and discrimination. Goldberg, IV.[2019]

Recent advancements in molecular genetics have enabled genetic testing for inherited mutations linked to cancer, although these mutations account for only 5-20% of all cancers, highlighting the complex nature of the disease.

Identifying inherited cancer syndromes and providing predictive genetic testing and counseling are crucial for women and families at increased risk, but discussions about the best practices for early detection and prevention are ongoing.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

[Hereditary cancer syndromes in gynecology: what the practitioner needs to know!]. Kuschel, B., Köchli, OR., Niederacher, D., et al.[2006]

The Cancer Risk Evaluation Program effectively addresses the complexities of presymptomatic genetic testing for cancer susceptibility, providing comprehensive services including genetic counseling, risk analysis, and long-term surveillance for individuals concerned about their cancer risk.

Participant evaluations indicate that the program meets the needs of those seeking genetic testing, while also adhering to established guidelines and ethical considerations in cancer genetic services.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Establishing a cancer risk evaluation program. Calzone, KA., Stopfer, J., Blackwood, A., et al.[2009]

The establishment of satellite clinics and educational programs significantly improved clinician knowledge about cancer genetic counseling, leading to better quality referrals for patients, with 88% of patients attending their appointments.

In a predominantly Latina clinic population, 71.4% of patients had cancer, and 17 families were identified with genetic mutations, indicating that targeted genetic counseling can effectively identify at-risk individuals and potentially reduce cancer morbidity in underserved communities.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

If we build it ... will they come?--establishing a cancer genetics services clinic for an underserved predominantly Latina cohort. Ricker, C., Lagos, V., Feldman, N., et al.[2022]

References

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

Genetic testing. [2019]

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

Genetic Testing in Clinical Settings. [2019]

3. England pubmed.ncbi.nlm.nih.gov

Costs, benefits and limitations of genetic testing for cancer risk. [2009]

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

Genomic testing in oncology to improve clinical outcomes while optimizing utilization: the evolution of diagnostic testing. [2017]

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

Potential impact of genetic testing on cancer prevention trials, using breast cancer as an example. [2019]

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

Taming the Gene Genie. [2018]

7. England pubmed.ncbi.nlm.nih.gov

Controversies and ethical issues in cancer-genetics clinics. [2014]

8. Germany pubmed.ncbi.nlm.nih.gov

Advances in Genetic Testing for Hereditary Cancer Syndromes. [2016]

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

Genetic information privacy and discrimination. [2019]

10. Switzerland pubmed.ncbi.nlm.nih.gov

[Hereditary cancer syndromes in gynecology: what the practitioner needs to know!]. [2006]

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

Establishing a cancer risk evaluation program. [2009]

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

If we build it ... will they come?--establishing a cancer genetics services clinic for an underserved predominantly Latina cohort. [2022]