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

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to explore how a new genetic counseling method might influence surgical decisions for individuals recently diagnosed with breast cancer. Participants will undergo genetic testing and receive guidance through either standard genetic counseling or a new approach using tables and graphs, known as quantitative genetic counseling. The study targets those who are newly diagnosed, proficient in English, and prepared to make surgical decisions. Eligible participants should not have had breast cancer previously and must be cleared for surgery. As an unphased trial, this study offers participants the chance to contribute to innovative research that could enhance decision-making tools for future patients.

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 prior data suggests that these genetic counseling methods are safe?

Research has shown that genetic counseling, whether conducted traditionally or with charts and graphs, is generally safe and well-received by patients. In past studies, participants reported high satisfaction with genetic counseling. For instance, one study found that 94.9% of participants felt their questions about hereditary breast cancer were answered after counseling and testing. This suggests that the process is not only informative but also easy for patients to navigate.

These trials focus on counseling methods, which involve discussion and education, not medical procedures. Therefore, patients need not worry about physical side effects. The counseling helps patients understand their genetic test results, guiding important health decisions. Based on available data, these methods appear safe and well-tolerated. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about this trial because it explores different approaches to genetic counseling for breast cancer, which could revolutionize patient understanding and decision-making. Unlike standard genetic counseling, which involves a typical discussion format, quantitative genetic counseling uses tables and graphs to guide the conversation. This visual approach could make complex genetic information more accessible and easier to understand for patients, potentially leading to more informed choices about their health. By comparing these two methods, researchers hope to identify a counseling technique that enhances patient comprehension and satisfaction.

What evidence suggests that these genetic counseling methods are effective for breast cancer?

This trial will compare two methods of genetic counseling for breast cancer patients: Standard Genetic Counseling and Quantitative Genetic Counseling. Research has shown that genetic counseling aids breast cancer patients in making treatment decisions. Studies have found that using charts and graphs during genetic counseling, as in the Quantitative Genetic Counseling arm of this trial, helps patients better understand their test results. This understanding can lead to more informed choices about surgery. Specifically, one study found that this method can speed up receiving test results by up to 85%, which is crucial for timely decision-making. Overall, patients report high satisfaction with genetic counseling, indicating it is a valuable part of managing their treatment. ^{1 3 6 7 8}

Who Is on the Research Team?

Tara King, MD

Principal Investigator

Dana-Farber Cancer Institute

Are You a Good Fit for This Trial?

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 for a Trial Participant

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

What Are the Treatments Tested in This Trial?

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.

How Is the Trial Designed?

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+

Published Research Related to This Trial

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]

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]

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]

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]

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]

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]

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]

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]

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