Genetic Testing for Breast Cancer

Overseen By Tara King, MD

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: Dana-Farber Cancer Institute

Disqualifiers: Previous breast cancer, Metastatic, Bilateral, others

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

Compensation: Varies

Number of Visits: 1

400 Participants Needed

Trial Summary

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 the treatment Quantitative Genetic Counseling, Standard Genetic Counseling for breast cancer?

Research shows that genetic counseling is increasingly used among breast cancer patients with a high familial risk, and it helps in understanding the risk of developing contralateral breast cancer. However, the overall survival rates were not significantly different between those who had genetic counseling and those who did not, indicating that while counseling is beneficial for risk assessment, it may not directly impact survival outcomes. ^{1 2 3 4 5}

Is genetic counseling and testing for breast cancer safe?

The research does not provide specific safety data for genetic counseling and testing, but these services are routinely offered in clinical settings, suggesting they are generally considered safe for use in humans. ^{1 6 7 8 9}

How does Quantitative Genetic Counseling differ from other treatments for breast cancer?

Quantitative Genetic Counseling is unique because it focuses on providing detailed genetic information to help individuals understand their risk of breast cancer and make informed decisions about prevention and management. This approach is particularly important as genetic testing becomes more accessible and involves multiple genes, requiring careful interpretation and personalized risk management strategies. ^{10 11 12 13 14}

What is the purpose of this trial?

This study is designed to determine the impact of a novel genetic counseling method on surgical decisions in individuals with newly diagnosed breast cancer This research study involves an expedited and surgery-specific form of genetic counseling. The names of the study methods involved in this trial are/is: * Quantitative genetic counseling (discussion is guided by tables and graphs) * Standard genetic counseling

Research Team

Tara King, MD

Principal Investigator

Dana-Farber Cancer Institute

Eligibility Criteria

This trial is for English-speaking adults aged 18-78 with a new breast cancer diagnosis who are cleared for surgery and considering genetic testing. It's not for those with metastatic or bilateral breast cancer, previous breast cancers, certain other malignancies, or prior broad-based panel genetic testing.

Inclusion Criteria

I have been newly diagnosed with breast cancer and am considering genetic testing.

I can make my own decisions about surgery.

My doctor says I am fit for surgery.

Exclusion Criteria

I have cancer in both of my breasts.

I have a health condition that prevents me from having surgery on the opposite breast.

I have had genetic testing done, but my BRCA1/2 results were negative.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Genetic Counseling

Participants receive genetic testing and are placed into either standard or quantitative genetic counseling groups

1 month

1 visit (in-person)

Follow-up

Participants are monitored for changes in risk assessment, anxiety levels, and satisfaction with genetic counseling

6 months

Multiple visits (in-person and virtual)

Optional Extension

Participants may opt into an extension of the study for further monitoring and counseling

Up to 2 years

Treatment Details

Interventions

• Quantitative Genetic Counseling
• Standard Genetic Counseling

Trial Overview The study compares two types of genetic counseling: 'Quantitative' which uses tables and graphs to guide discussion, and the 'Standard' method. The goal is to see how these affect surgical decisions in newly diagnosed breast cancer patients.

Participant Groups

Group I: Quantitative Genetic Counseling Experimental Treatment 1 Intervention

The research study procedures include screening for eligibility and study interventions including evaluations and follow up visits - After receiving genetic testing, participants will be placed into one of two counseling methodology groups: -- Quantitative genetic counseling: Discussion is guided by tables and graphs.

Group II: STANDARD GENETIC COUNSELING Active Control 1 Intervention

The research study procedures include screening for eligibility and study interventions including evaluations and follow up visits - After receiving genetic testing, participants will be placed into one of two counseling methodology groups: -- Standard genetic counseling: Standard of care discussion

Who Is Running the Clinical Trial?

Dana-Farber Cancer Institute

Lead Sponsor

Trials

1,128

Recruited

382,000+

Myriad Genetics, Inc.

Industry Sponsor

Trials

18

Recruited

5,700+

Findings from Research

Only 11.2% of breast cancer patients with familial risk received genetic counseling, but this increased to 25.1% among those at high familial risk, indicating a need for improved access and awareness.

Patients who underwent genetic counseling had a borderline increased risk of developing contralateral breast cancer, particularly among BRCA1/BRCA2 mutation carriers, suggesting that genetic counseling may identify individuals at higher risk for further cancer development.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Determinants of genetic counseling uptake and its impact on breast cancer outcome: a population-based study. Ayme, A., Viassolo, V., Rapiti, E., et al.[2014]

The demand for cancer genetic counseling is increasing, necessitating the exploration of alternative service delivery models like telephone counseling, telegenetics, and group counseling to improve access to care.

While preliminary research suggests these alternative models may be acceptable to patients and improve access, further studies are needed to evaluate their long-term effectiveness and outcomes compared to traditional in-person counseling.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Alternate Service Delivery Models in Cancer Genetic Counseling: A Mini-Review. Buchanan, AH., Rahm, AK., Williams, JL.[2022]

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]

In families with uninformative negative BRCA1/2 test results, sharing information about genetic counseling significantly improves the accuracy of risk perception among sisters and daughters, with a correlation of 0.707 for those who received more information.

Despite the benefits of sharing information, many counselees reported sharing little to no details about their genetic counseling sessions, highlighting the need for better communication strategies to help family members understand their cancer risks.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Breast Cancer Risk Perceptions among Relatives of Women with Uninformative Negative BRCA1/2 Test Results: The Moderating Effect of the Amount of Shared Information. Himes, DO., Clayton, MF., Donaldson, GW., et al.[2020]

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]

Breast cancer genetic counseling significantly reduces anxiety levels in women with breast cancer, while also improving cognitions about risk in women without breast cancer, although affected women showed smaller improvements overall.

Interestingly, cancer-related distress increased immediately after counseling for affected women, suggesting that additional support may be needed to address their specific anxieties and educational needs.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Longer-term influence of breast cancer genetic counseling on cognitions and distress: smaller benefits for affected versus unaffected women. Pieterse, AH., Ausems, MG., Spreeuwenberg, P., et al.[2019]

Cancer genetic counseling is evolving to include more abbreviated pretest counseling, allowing for quicker informed consent processes for patients.

Genetic information is increasingly being integrated into oncology care, influencing decisions on surgery and chemotherapy, while direct-to-consumer testing options empower individuals to manage their genetic health.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Cancer Genetic Counseling-Current Practice and Future Challenges. Schienda, J., Stopfer, J.[2022]

A new model of genetic counseling (GC) that includes a 20-minute presentation before a telephone call significantly reduced the time needed for pre-test GC, averaging 19 minutes compared to 46 minutes for traditional in-person counseling.

This modified GC model was found to be non-inferior to traditional methods in terms of psychosocial outcomes like cancer-specific distress and satisfaction, making it an efficient alternative to meet the increasing demand for genetic testing.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Modified panel-based genetic counseling for ovarian cancer susceptibility: A randomized non-inferiority study. McCuaig, JM., Tone, AA., Maganti, M., et al.[2019]

References

1. Netherlands pubmed.ncbi.nlm.nih.gov

Determinants of genetic counseling uptake and its impact on breast cancer outcome: a population-based study. [2014]

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

Pivotal Role of Genetic Counselors in the Uptake of Germline Genetic Testing in Non-Metastatic Breast Cancer and the Impact of Testing on Surgical Decision Making. [2023]

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

Adverse events in cancer genetic testing: the third case series. [2014]

4. Switzerland pubmed.ncbi.nlm.nih.gov

Alternate Service Delivery Models in Cancer Genetic Counseling: A Mini-Review. [2022]

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

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

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

Validity of self-reported genetic counseling and genetic testing use among breast cancer survivors. [2021]

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

Making Sense of SNPs: Women's Understanding and Experiences of Receiving a Personalized Profile of Their Breast Cancer Risks. [2022]

8. Ireland pubmed.ncbi.nlm.nih.gov

Results of a randomized study of telephone versus in-person breast cancer risk counseling. [2018]

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

Breast Cancer Risk Perceptions among Relatives of Women with Uninformative Negative BRCA1/2 Test Results: The Moderating Effect of the Amount of Shared Information. [2020]

10. 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]

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

Updates in hereditary breast cancer genetic testing and practical high risk breast management in gene carriers. [2021]

12. Ireland pubmed.ncbi.nlm.nih.gov

Longer-term influence of breast cancer genetic counseling on cognitions and distress: smaller benefits for affected versus unaffected women. [2019]

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

Cancer Genetic Counseling-Current Practice and Future Challenges. [2022]

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

Modified panel-based genetic counseling for ovarian cancer susceptibility: A randomized non-inferiority study. [2019]