Genetic Counseling Interventions for Cancer Risk Management

(IMPACT Trial)

Overseen By Anne Weidner, MPH

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: Vanderbilt-Ingram Cancer Center

Disqualifiers: Adopted, No internet access, others

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

Compensation: Varies

Number of Visits: Unknown

720 Participants Needed

Trial Summary

What is the purpose of this trial?

The IMPACT Study seeks to refine and evaluate the effectiveness of interventions on improving guideline-adherent cancer risk management (CRM) and family communication (FC) of genetic test results for individuals with a documented pathogenic/likely pathogenic (P/LP) variant, and FC of family cancer history for individuals with a variant of uncertain significance (VUS) in an inherited cancer gene.

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 is best to discuss this with the trial coordinators or your doctor.

What data supports the effectiveness of the treatment GeneSHARE, LivingLabReport, My Gene Counsel's Living Lab Report, Standard-of-care & Adaptive Intervention, Standard-of-care & Adaptive Intervention, IMPACT Study Interventions for cancer risk management?

The research highlights the importance of genetic counseling in identifying individuals at high risk for cancer, especially in underserved populations, and suggests that such interventions can lead to better risk-reduction strategies and potentially lower cancer incidence. Additionally, genetic counseling can help individuals understand their cancer risk and manage psychological distress, although it may increase distress in those who overestimate their risk. ^{1 2 3 4 5}

Is genetic counseling for cancer risk management safe for humans?

The research articles reviewed do not provide specific safety data for genetic counseling interventions, but genetic counseling is generally considered a safe process as it involves providing information and support rather than medical treatment. ^{2 3 6 7 8}

How is the genetic counseling treatment for cancer risk management different from other treatments?

Genetic counseling for cancer risk management is unique because it focuses on assessing an individual's genetic risk for cancer and providing personalized guidance on prevention and early detection strategies, rather than treating cancer itself. This approach is particularly beneficial for individuals who have not yet been diagnosed with cancer, allowing for proactive risk management. ^{2 3 4 9 10}

Research Team

Tuya Pal, MD

Principal Investigator

Vanderbilt-Ingram Cancer Center

Eligibility Criteria

This trial is for individuals who are not following current cancer screening guidelines or need ongoing screening, know their biological family history, speak English, have internet access and a device. They must have certain genetic variations linked to cancer and at least one relative unaware of these risks.

Inclusion Criteria

I have a relative at risk who hasn't been informed about my genetic test results or our family's cancer history.

I have a genetic mutation linked to cancer, as per NCCN guidelines.

I am not following one of the cancer treatment guidelines or need ongoing cancer screening.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Intervention

Participants receive interventions to improve guideline-adherent cancer risk management and family communication of genetic test results

12 months

Follow-up

Participants are monitored for changes in family communication and cancer risk management adherence

12 months

Treatment Details

Interventions

• GeneSHARE
• LivingLabReport
• Standard-of-care & Adaptive Intervention

Trial Overview The IMPACT Study tests interventions like surveys, interviews, GeneSHARE program, LivingLabReport tool against standard care to see if they improve adherence to cancer risk management guidelines and communication about genetic test results within families.

Participant Groups

Group I: Variants of Uncertain Significance (VUS) Pilot Study Experimental Treatment 2 Interventions

Participants are provided access to VUS educational resources including video and written education and assistance for speaking with family members.

Group II: LivingLabReport Experimental Treatment 3 Interventions

Access to LivingLabReport, a website containing multiple resources including a summary of the patient's genetic test results, condition-specific information, recommended CRM, and information on accessing CRM services.

Group III: GeneSHARE Experimental Treatment 3 Interventions

Access to GeneSHARE, a web-based toolkit including interactive and narrative components to enhance FC of genetic test results.

Group IV: Standard-of-care Active Control 3 Interventions

Receive standard-of-care from their treating healthcare provider.

Who Is Running the Clinical Trial?

Vanderbilt-Ingram Cancer Center

Lead Sponsor

Trials

221

Recruited

64,400+

National Cancer Institute (NCI)

Collaborator

Trials

14,080

Recruited

41,180,000+

University of South Florida

Collaborator

Trials

433

Recruited

198,000+

Findings from Research

In a study of 243 breast cancer counselees, higher genetic knowledge before testing did not improve psychological outcomes and, in fact, led to increased distress in those who overestimated their cancer risk after receiving BRCA1/2 results.

The findings suggest that instead of overwhelming patients with extensive genetic information, it may be more beneficial to help those who overestimate their risk to better understand their genetic knowledge, potentially reducing their distress after receiving test results.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Effect on perceived control and psychological distress of genetic knowledge in women with breast cancer receiving a BRCA1/2 test result. Brédart, A., Kop, JL., De Pauw, A., et al.[2017]

A point of care screening tool effectively identified high-risk low-income breast cancer patients for genetic counseling, with 53.5% of the 99 enrolled women scoring as 'high-risk' and a significant portion receiving counseling and testing.

The study revealed a 9% mutation positive rate among high-risk participants and a 20% mutation positive rate in a subset of low-risk participants, highlighting the importance of genetic counseling even in those considered low-risk.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Increased ease of access to genetic counseling for low-income women with breast cancer using a point of care screening tool. Rao, SK., Thomas, KA., Singh, R., et al.[2021]

The article outlines genetic counseling protocols developed for a large family with a BRCA1 mutation, highlighting their importance in addressing cancer susceptibility testing.

Counselors observed significant concerns and responses from study subjects during pretest and posttest counseling sessions, indicating the need for effective communication and support in genetic testing processes.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

BRCA1 Testing: Genetic Counseling Protocol Development and Counseling Issues. Baty, BJ., Venne, VL., McDonald, J., et al.[2018]

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]

Genetic counseling and testing significantly increased cancer surveillance among 251 individuals with BRCA mutations, leading to the early detection of 21 cancers, primarily at stage 0 or I.

Risk-reducing surgeries, such as mastectomy and salpingo-oophorectomy, resulted in the identification of early-stage tumors, demonstrating the effectiveness of these preventive strategies in managing hereditary cancer risk.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. Scheuer, L., Kauff, N., Robson, M., et al.[2017]

In a study involving 51 women undergoing breast cancer genetic counseling, it was found that general risks were primarily communicated during initial visits, while specific risks were discussed later, indicating a structured approach to risk communication.

Despite counselors helping counselees understand the information, the way risks were presented (mostly numerically or qualitatively) did not significantly influence counselees' risk perception or satisfaction, suggesting a need for more personalized communication strategies.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Risk communication in completed series of breast cancer genetic counseling visits. Pieterse, AH., van Dulmen, S., van Dijk, S., et al.[2022]

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 study found that only 34% of eligible family members participated in genetic counselling for breast/ovarian cancer, with lower uptake linked to the proband having cancer or being referred by a doctor.

Family members from younger generations were more likely to participate, while older generations showed lower uptake, indicating that understanding these demographic factors can help improve participation rates in genetic counselling.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Proband family uptake of familial-genetic counselling. Hagoel, L., Dishon, S., Almog, R., et al.[2019]

A review of 54 randomized controlled trials (RCTs) on genetic counseling, primarily in cancer settings, shows that genetic counseling can enhance client outcomes such as psychological well-being and patient satisfaction.

Despite the positive findings, the variability in study designs and outcome measures highlights the need for more standardized assessments in future research to better compare results and improve clinical practice.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

A Systematic Review of Randomized Controlled Trials to Assess Outcomes of Genetic Counseling. Athens, BA., Caldwell, SL., Umstead, KL., et al.[2021]

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]

References

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

Effect on perceived control and psychological distress of genetic knowledge in women with breast cancer receiving a BRCA1/2 test result. [2017]

2. Germany pubmed.ncbi.nlm.nih.gov

Increased ease of access to genetic counseling for low-income women with breast cancer using a point of care screening tool. [2021]

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

BRCA1 Testing: Genetic Counseling Protocol Development and Counseling Issues. [2018]

4. 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]

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

Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. [2017]

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

Risk communication in completed series of breast cancer genetic counseling visits. [2022]

7. 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]

8. England pubmed.ncbi.nlm.nih.gov

Proband family uptake of familial-genetic counselling. [2019]

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

A Systematic Review of Randomized Controlled Trials to Assess Outcomes of Genetic Counseling. [2021]

10. 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]