Genetic Testing and Counseling for Hereditary Cancer

Overseen By Ignite Study

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: M.D. Anderson Cancer Center

Disqualifiers: No at-risk relatives, Negative genetic test, Unwilling to consent, others

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

Compensation: Varies

Number of Visits: Unknown

205 Participants Needed

Trial Summary

What is the purpose of this trial?

This is a community-based study requiring participant-self-enrollment, that can help to increase the rates of genetic testing among the family members of people who have been diagnosed with a hereditary cancer syndrome. The two main factors in this study are the IGNITE-TX intervention (website and navigator) and the free genetic counseling and testing. The IGNITE-TX Intervention is an innovative multi-modal intervention, with two components: a) interactive web "IGNITE-TX Hub" and b) genetic family navigators.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. It seems focused on genetic testing and counseling, so it's unlikely that your current medications would be affected.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. It focuses on genetic testing and counseling, so it's unlikely that your medications will be affected.

What data supports the effectiveness of the treatment Free genetic testing and counseling group, IGNITE-TX and free genetic testing and counseling group, IGNITE-TX Group?

Research shows that genetic counseling and testing can help identify individuals at risk for hereditary cancers, like breast and ovarian cancer, allowing for better prevention and treatment strategies. Additionally, studies suggest that telephone genetic counseling is as effective as in-person counseling for reducing cancer-related stress and improving genetic knowledge. ^{1 2 3 4 5}

What data supports the effectiveness of the treatment Free genetic testing and counseling group, IGNITE-TX and free genetic testing and counseling group, IGNITE-TX Group for hereditary cancer?

Research shows that genetic testing and counseling can help identify individuals at risk for hereditary cancers, such as breast and ovarian cancer, allowing for better prevention and treatment strategies. For example, timely genetic testing at ovarian cancer diagnosis can impact treatment decisions and reduce patient stress, anxiety, and depression. ^{1 2 3 5 6}

Is genetic testing and counseling for hereditary cancer safe for humans?

The research does not provide specific safety data for genetic testing and counseling, but these services are generally considered safe as they involve analyzing genetic information and providing guidance based on the results. ^{7 8 9 10 11}

Is genetic testing and counseling for hereditary cancer safe for humans?

The research does not provide specific safety data for genetic testing and counseling, but these services are generally considered safe as they involve analyzing genetic information and providing guidance based on the results. ^{7 8 9 10 11}

How does the treatment 'Free genetic testing and counseling group, IGNITE-TX' differ from other treatments for hereditary cancer?

This treatment is unique because it offers free genetic testing and counseling, which helps identify individuals at risk for hereditary cancer before they develop the disease, allowing for preventive measures and personalized risk management strategies. Unlike standard treatments that focus on managing cancer after diagnosis, this approach emphasizes early detection and prevention. ^{7 12 13 14 15}

How is the treatment 'Free genetic testing and counseling group, IGNITE-TX' unique for hereditary cancer?

This treatment is unique because it offers free genetic testing and counseling to identify individuals at risk for hereditary cancer, allowing for early intervention and personalized prevention strategies, which is not typically available in standard cancer care. ^{7 12 13 14 15}

Research Team

Jose Rauh-Hain, MD

Principal Investigator

M.D. Anderson Cancer Center

Eligibility Criteria

This trial is for adults in the U.S. who speak English or Spanish, have internet access, and a known genetic mutation linked to certain cancers (like BRCA1/2 or Lynch Syndrome) in their family. They should have at least one relative also at risk but can't join if they've already been tested negative for these mutations or don't have any relatives who could be affected.

Inclusion Criteria

I have a close family member who also meets the trial's requirements.

I am 18 years old or older.

I can show that a close family member has a harmful gene variant linked to cancer.

Exclusion Criteria

My family members do not qualify for this clinical trial.

You have already been listed as an affected relative for another person in the study.

I have been tested for the same genetic variant found in my family member.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Enrollment

Enrollment of probands and at-risk relatives over a 6-month period

6 months

Intervention

Participants engage with the IGNITE-TX intervention, including the web 'IGNITE-TX Hub' and genetic family navigators

6 months

Follow-up

Participants are monitored through follow-up surveys to assess response rates and measure changes in genetics knowledge

4 weeks

Treatment Details

Interventions

• Free genetic testing and counseling group
• IGNITE-TX and free genetic testing and counseling group
• IGNITE-TX Group

Trial Overview The study tests an intervention called IGNITE-TX which includes a web platform and personal navigators to increase genetic testing rates among families with hereditary cancer syndromes. It compares the effectiveness of this approach with free genetic counseling and testing services.

Participant Groups

Group I: Group 4 (IGNITE-TX and free genetic testing and counseling group) Experimental Treatment 3 Interventions

Relatives randomized to this arm will receive a family letter after enrollment and baseline survey with their personal access codes (not to be shared) to the IGNITE-TX "Hub" (access online educational material through a platform) and information to contact the tele genetics company. This arm will receive both the IGNITE-TX Intervention and access to free genetic testing and counseling services, as well as access to assistance from family genetic navigator

Group II: Group 3 (IGNITE-TX Group) Experimental Treatment 3 Interventions

Relatives of probands randomized to the IGNITE-TX intervention will receive a family letter after enrollment and baseline survey with their personal access codes (not to be shared) to the IGNITE-TX "Hub" (access online educational material through a platform). Relatives will have also access services of a family genetic navigator. Study investigators and navigators will not directly provide genetic counseling and/or testing in this arm

Group III: Group 2 (Free genetic testing and counseling group) Experimental Treatment 3 Interventions

Enrolled relatives will receive a letter and baseline survey with information to contact the tele-genetics company to arrange free genetic counseling and testing. This letter will be given to the relatives directly by the study

Group IV: Group 1 (Standard of Care Group) Active Control 1 Intervention

Participants (probands, those with a hereditary cancer syndrome) are sent a family letter to share with relatives. The letter contains information about hereditary cancer syndromes and encourages relatives to participate in the study and to get genetic testing. Relatives of probands randomized to the usual care arm will have access to the family letter if probands decide to share it with them, and will receive study surveys. The letter contains information about hereditary cancer syndromes and encourages relatives to participate in the study and to get genetic testing

Who Is Running the Clinical Trial?

M.D. Anderson Cancer Center

Lead Sponsor

Trials

3,107

Recruited

1,813,000+

Findings from Research

Kaiser Permanente implemented clinical practice guidelines for genetic counseling related to breast and ovarian cancer, starting in 1997, which included extensive training and educational resources for both patients and healthcare providers.

The initiative highlighted the importance of integrating cancer genetics into healthcare, addressing ethical and societal issues, and improving communication about the uncertainties of genetic testing for breast cancer risk.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Breast cancer genetics and managed care. The Kaiser Permanente experience. Kutner, SE.[2019]

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]

Genetic testing for hereditary breast and ovarian cancer syndrome is crucial for identifying individuals at risk, and current guidelines need updating to reflect new treatments like PARP inhibitors for BRCA1/2 mutation carriers.

There is an increasing need to refine mutation detection in high-risk families due to a higher incidence of other cancers, such as prostate and pancreatic cancer, which can improve preventive care and inform targeted treatments.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

[Recommended Extension of Indication Criteria for Genetic Testing of BRCA1 and BRCA2 Mutations in Hereditary Breast and Ovarian Cancer Syndrome]. Foretová, L., Macháčková, E., Palácová, M., et al.[2019]

Telephone genetic counseling for BRCA1 and BRCA2 testing is as effective as in-person counseling in terms of reducing cancer-specific distress and improving genetic knowledge, based on a systematic review of four studies.

This approach may provide a viable alternative for delivering genetic services, especially during situations like the COVID-19 pandemic, although more research is needed to confirm these findings across broader populations.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

A systematic review and meta-analysis of telephone vs in-person genetic counseling in BRCA1/BRCA2 genetic testing. Bracke, X., Roberts, J., McVeigh, TP.[2021]

A breast cancer patient without BRCA1/2 mutations was found to have pathogenic mutations in the CDH1 and PMS2 genes through multi-gene panel testing, highlighting the importance of further genetic evaluation in BRCA1/2-negative patients.

This case illustrates the potential for double heterozygosity in cancer risk genes, emphasizing the clinical utility of multi-gene testing for better cancer prevention and management strategies in patients and their families.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Hereditary diffuse gastric cancer and lynch syndromes in a BRCA1/2 negative breast cancer patient. Njoroge, SW., Burgess, KR., Cobleigh, MA., et al.[2018]

Complex interventions, including education for patients and healthcare professionals, have been shown to increase access to genetic counseling by an average of 35% and testing completion by 15% in oncology settings, based on a review of 27 studies.

The review highlights the need for more methodologically sound studies to explore the effectiveness of genetic testing integration in oncology, which could lead to improved service delivery models for identifying hereditary cancers.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Health system interventions to integrate genetic testing in routine oncology services: A systematic review. O'Shea, R., Taylor, N., Crook, A., et al.[2021]

The workshop emphasized the importance of providing comprehensive testing and counseling services for adults at increased risk of hereditary cancers, specifically breast, ovarian, and colon cancers.

Key recommendations included structured counseling at three critical time points: pretest education, risk notification, and follow-up, to ensure effective communication and support for individuals undergoing genetic testing.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Testing and counseling adults for heritable cancer risk. Biesecker, BB., Garber, JE.[2018]

A large study of 1,103 women who underwent BRCA testing found that 97% communicated their results to at least one relative, but communication was less likely among older women, those of Asian descent, and those tested at public hospitals.

Seventy-five percent of BRCA-positive participants had at least one relative pursue genetic testing, with higher rates of family testing associated with greater socioeconomic status and satisfaction with the decision to test.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Communication of BRCA results and family testing in 1,103 high-risk women. Cheung, EL., Olson, AD., Yu, TM., et al.[2022]

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]

A survey of 80 genetic counselors revealed that 96% recommend confirmatory clinical-grade testing for patients with positive direct-to-consumer genetic test results for BRCA1/2 variants, indicating a strong consensus on the need for verification of these results.

However, there is significant variability in the specific types of confirmatory tests recommended, with options ranging from single-site analysis to multi-gene panel testing, highlighting the need for clearer guidelines in genetic counseling practices.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genetic counselor approaches to BRCA1/2 direct-to-consumer genetic testing results. Burke, S., Mork, M., Qualmann, K., et al.[2021]

Implementing an automated hereditary cancer screening program using tumor-based DNA sequencing can effectively identify patients with hereditary cancer, providing an additional diagnostic strategy beyond traditional genetic counseling based on personal or family history.

Patients identified through the tumor DNA safety net were less likely to meet the National Comprehensive Cancer Network (NCCN) criteria for genetic testing compared to those who underwent traditional counseling, highlighting the program's ability to uncover hereditary risks in a broader patient population.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Next-generation universal hereditary cancer screening: implementation of an automated hereditary cancer screening program for patients with advanced cancer undergoing tumor sequencing in a large HMO. Hoffman, TL., Kershberg, H., Goff, J., et al.[2023]

The integration of hereditary cancer genetic counseling units (HCGCUs) into Spanish hospitals provides high-quality, multidisciplinary care for individuals and families at risk of hereditary cancers.

The Spanish Society of Medical Oncology (SEOM) has established guidelines to ensure the effective operation and quality control of HCGCUs, aiming to enhance patient care and coordination in managing hereditary cancer risks.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

SEOM recommendations on the structure and operation of hereditary cancer genetic counseling units (HCGCUs). Lastra-Aras, E., Robles-Díaz, L., Guillén-Ponce, C., et al.[2021]

Cancer genetic services are essential for assessing hereditary cancer risks and providing tailored management options, requiring expertise from clinicians trained in both oncology and genetics.

Genetic counselors and nurses play a crucial role in these services, as they are equipped to conduct risk assessments, educate patients, and offer psychosocial support, which can ultimately help reduce cancer-related morbidity and mortality.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genetic counseling and clinical cancer genetics services. Stopfer, JE.[2019]

In a study of 2531 individuals counseled at the HBOC-Center at Charité, genetic analysis revealed that 30.3% had pathogenic variants, primarily in the BRCA1 and BRCA2 genes, highlighting the importance of genetic testing in identifying those at risk for hereditary breast and ovarian cancer.

The prevalence of pathogenic variants was significantly higher in families with both breast and ovarian cancer (50.5%) and among patients with triple-negative breast cancer, especially those diagnosed before age 40 (53.4%), indicating that family history and cancer subtype are critical factors in assessing genetic risk.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Interdisciplinary risk counseling for hereditary breast and ovarian cancer: real-world data from a specialized center. Zang, B., Helms, M., Besch, L., et al.[2023]

A study involving 34 women with BRCA1/2 mutations revealed that genetic testing and counseling can significantly impact their emotional well-being and decision-making regarding cancer prevention, highlighting the importance of supportive healthcare practices.

Participants expressed a need for improvements in genetic counseling services, including better training for healthcare professionals and more educational resources, to enhance the quality of care for women at risk of breast and ovarian cancers.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Perceptions and care Recommendations from Previvors: Qualitative analysis of female BRCA1/2 mutation Carriers' experience with genetic testing and counseling. Dibble, KE., Donorfio, LKM., Britner, PA., et al.[2022]

References

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

Breast cancer genetics and managed care. The Kaiser Permanente experience. [2019]

2. United States 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. [2020]

3. Czech Republic pubmed.ncbi.nlm.nih.gov

[Recommended Extension of Indication Criteria for Genetic Testing of BRCA1 and BRCA2 Mutations in Hereditary Breast and Ovarian Cancer Syndrome]. [2019]

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

A systematic review and meta-analysis of telephone vs in-person genetic counseling in BRCA1/BRCA2 genetic testing. [2021]

5. Netherlands pubmed.ncbi.nlm.nih.gov

Hereditary diffuse gastric cancer and lynch syndromes in a BRCA1/2 negative breast cancer patient. [2018]

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

Health system interventions to integrate genetic testing in routine oncology services: A systematic review. [2021]

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

Testing and counseling adults for heritable cancer risk. [2018]

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

Communication of BRCA results and family testing in 1,103 high-risk women. [2022]

9. Switzerland 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. [2017]

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

Genetic counselor approaches to BRCA1/2 direct-to-consumer genetic testing results. [2021]

11. Netherlands pubmed.ncbi.nlm.nih.gov

Next-generation universal hereditary cancer screening: implementation of an automated hereditary cancer screening program for patients with advanced cancer undergoing tumor sequencing in a large HMO. [2023]

12. Italy pubmed.ncbi.nlm.nih.gov

SEOM recommendations on the structure and operation of hereditary cancer genetic counseling units (HCGCUs). [2021]

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

Genetic counseling and clinical cancer genetics services. [2019]

14. Germany pubmed.ncbi.nlm.nih.gov

Interdisciplinary risk counseling for hereditary breast and ovarian cancer: real-world data from a specialized center. [2023]

15. Netherlands pubmed.ncbi.nlm.nih.gov

Perceptions and care Recommendations from Previvors: Qualitative analysis of female BRCA1/2 mutation Carriers' experience with genetic testing and counseling. [2022]