Genetic Results Return for Cancer Patients

Overseen By Bettina Drake, Ph.D., MPH

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: Washington University School of Medicine

Disqualifiers: Non-African-American, Over 65, others

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

Compensation: Varies

Number of Visits: 7

990 Participants Needed

Trial Summary

What is the purpose of this trial?

The overall goal of the WU-PE-CGS is to build a rigorous, scientific evidence base for approaches that direct engagement of cancer patients and post-treatment cancer survivors as participants in cancer research, and to investigate the impact of directly engaging participants in decisions regarding returning of genomic results on participants' health and satisfaction. Participants in this study will be presented with the choice of types of genomic results to receive, and the Engagement Optimization Unit (EOU) will investigate the impact of this intervention on participant knowledge, expectations of benefit, personal utility, and decisional conflict.

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 Participant Engagement and Genomic Result Return for cancer patients?

Research shows that when genetic counseling is included in the return of genetic results, patients feel less confused and more confident in understanding their results. Additionally, most people value receiving research results, which can increase their trust in researchers. ^{1 2 3 4 5}

Is the return of genetic results safe for participants?

The research does not provide specific safety data about the return of genetic results, but it highlights the importance of effective communication and engagement strategies to improve participant understanding and trust. ^{1 2 3 6 7}

How does this treatment differ from other treatments for cancer patients?

This treatment is unique because it focuses on returning genetic results to cancer patients, which can provide valuable insights into how their genetics affect medication response and disease risk. Unlike standard treatments that may not include this personalized genetic information, this approach aims to enhance patient engagement and trust by offering detailed genetic insights that can inform treatment decisions. ^{2 3 4 8 9}

Research Team

Graham Colditz, M.D., DrPH

Principal Investigator

Washington University School of Medicine

Eligibility Criteria

This trial is for cancer patients or survivors with conditions like Multiple Myeloma, Colorectal Cancer, Bile Duct Cancer, and Colon Cancer. They will be involved in research by choosing what genetic results they want to receive about inherited mutations and biomarkers from their cancer cells.

Inclusion Criteria

I am African-American, under 50, and diagnosed with colon or rectal cancer.

Able to understand and willing to sign an IRB-approved written informed consent document

I am African-American with multiple myeloma.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Genomic Sequencing and Decision-Making

Participants undergo germline genomic sequencing and decide on the types of genomic results they wish to receive

6-8 weeks

1 visit (in-person) for sequencing, multiple discussions (virtual or in-person) for decision-making

Follow-up

Participants are monitored for expectations of benefit, personal utility, knowledge, anxiety, and satisfaction after receiving genomic results

1 year

Assessments at 6-8 weeks and 1 year after results disclosure

Treatment Details

Interventions

• Participant Engagement and Genomic Result Return

Trial Overview The study tests the effect of giving patients a choice in receiving their own genomic information. It looks at how this choice impacts their knowledge, expectations of benefit, personal utility, and decision-making process regarding health.

Participant Groups

Group I: Return of Genetic Results Experimental Treatment 3 Interventions

Participants will undergo germline genomic sequencing as part of consenting to the WU-PE-CGS program. Participants will be given the option to receive the results from the genomic sequencing. After they consent to the study, the types of results available to them will be explained by research staff. Participants will be able to choose to receive: (1) no results, or any combination of (2) biomarker information from cancer cells, (3) inherited mutations related to cancer, and (4) inherited mutations related to other medical issues. These choices will be presented to them via a discussion with study staff with accompanying paper information

Group II: No Return of Genetic Results Active Control 1 Intervention

Participants will undergo germline genomic sequencing as part of consenting to the WU-PE-CGS program. Participants will be given the option to receive the results from the genomic sequencing. After they consent to the study, the types of results available to them will be explained by research staff. Participants will be able to choose to receive: (1) no results, or any combination of (2) biomarker information from cancer cells, (3) inherited mutations related to cancer, and (4) inherited mutations related to other medical issues. These choices will be presented to them via a discussion with study staff with accompanying paper information

Who Is Running the Clinical Trial?

Washington University School of Medicine

Lead Sponsor

Trials

2,027

Recruited

2,353,000+

The Foundation for Barnes-Jewish Hospital

Collaborator

Trials

43

Recruited

6,600+

National Cancer Institute (NCI)

Collaborator

Trials

14,080

Recruited

41,180,000+

Findings from Research

Patients receiving results of variants of uncertain significance (VUS) who were referred to genetic counseling reported better understanding and less confusion compared to those who were not referred, highlighting the importance of expert guidance in the return of results process.

Despite VUS not directly impacting healthcare decisions, patients expressed a desire for clearer communication and ongoing support, suggesting that improving the return of results process with patient-friendly resources could enhance their overall experience.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Implementation matters: How patient experiences differ when genetic counseling accompanies the return of genetic variants of uncertain significance. Patel, HV., Henrikson, NB., Ralston, JD., et al.[2022]

A national survey revealed that 78.5% of research participants value receiving their results, and 70.3% believe it would increase their trust in researchers, highlighting the importance of transparency in research.

Participants particularly valued results related to genetic effects on medication response and disease risk prediction, indicating a need for policies that accommodate diverse informational needs based on factors like education, race/ethnicity, and age.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Understanding What Information Is Valued By Research Participants, And Why. Wilkins, CH., Mapes, BM., Jerome, RN., et al.[2021]

A study involving 49 participants in genomics research highlighted that mistrust is a significant barrier to engagement, yet individuals are willing to participate to share their views and benefit their communities.

Participants prioritized the return of results for life-threatening conditions as the most important, emphasizing the need for engagement strategies that allow detailed sharing of perspectives to improve trust and policy development.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Engagement and return of results preferences among a primarily African American genomic sequencing research cohort. Lewis, KL., Turbitt, E., Chan, PA., et al.[2022]

In a study involving 39 cancer genetics participants, 70% chose to receive their CDKN2A gene test results, and those who did reported no negative psychological effects or changes in melanoma prevention behaviors after disclosure.

While the process of disclosing results was time-consuming and costly for researchers, 59% of participants indicated that receiving their results made them more likely to participate in future research, highlighting a potential benefit of individual result disclosure.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Disclosing individual CDKN2A research results to melanoma survivors: interest, impact, and demands on researchers. Christensen, KD., Roberts, JS., Shalowitz, DI., et al.[2021]

In a study involving 501 primary care providers, cash card incentives requiring email activation resulted in lower survey response rates (41.9%) compared to checks (54.1%), indicating that checks may be a more effective incentive for clinician surveys.

The effectiveness of checks as an incentive varied by geographic location, showing a significant positive impact on response rates specifically in Los Angeles and Philadelphia.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Comparison of up-front cash cards and checks as incentives for participation in a clinician survey: a study within a trial. Pace, LE., Lee, YS., Tung, N., et al.[2021]

Parents of children enrolled in genomic biobank research reported higher satisfaction when given the option to set specific preferences for receiving individual research results (IRRs), particularly in the 'Granular' group that used a preference-setting tool.

The study, which surveyed 2,718 parents out of 11,391 contacted, found that those who opted not to receive any IRRs were the least satisfied, suggesting that allowing participants to choose their level of engagement may enhance biobank participation.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Participant Satisfaction With a Preference-Setting Tool for the Return of Individual Research Results in Pediatric Genomic Research. Holm, IA., Iles, BR., Ziniel, SI., et al.[2020]

Participants in a study of 54 biobank contributors expressed significant interest in unexpected pharmacogenomic results related to the cancer drug 5-fluorouracil, indicating a strong desire for clear communication about these findings and their implications for health.

The study revealed that participants had questions about how to share these results with healthcare providers and family, highlighting the need for effective messaging that considers their health identity and the practicalities of conveying this information.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Communicating unexpected pharmacogenomic results to biobank contributors: A focus group study. Meagher, KM., Curtis, SH., Borucki, S., et al.[2021]

A survey conducted in Eastern Canada revealed that people are very interested in receiving unexpected genomic findings related to treatable disorders and carrier results, but less so for non-treatable disorders and unclassified variants.

Factors such as a desire for control over genomic data and a history of genetic conditions significantly increased interest in receiving unexpected findings, while concerns about genomic sequencing decreased interest in all unexpected results.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Public interest in unexpected genomic findings: a survey study identifying aspects of sequencing attitudes that influence preferences. Etchegary, H., Pullman, D., Simmonds, C., et al.[2022]

A systematic review of 221 studies involving 118,874 stakeholders revealed a strong interest among genomic research participants in receiving individual research results (IRR), with a particular emphasis on results that could impact clinical management.

Researchers and health professionals generally support returning IRR, especially when the results are reliable and clinically relevant, and evidence suggests that returning actionable results does not cause significant psychological harm to participants.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Return of individual research results from genomic research: A systematic review of stakeholder perspectives. Vears, DF., Minion, JT., Roberts, SJ., et al.[2021]

References

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

Implementation matters: How patient experiences differ when genetic counseling accompanies the return of genetic variants of uncertain significance. [2022]

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

Understanding What Information Is Valued By Research Participants, And Why. [2021]

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

Engagement and return of results preferences among a primarily African American genomic sequencing research cohort. [2022]

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

Disclosing individual CDKN2A research results to melanoma survivors: interest, impact, and demands on researchers. [2021]

5. England pubmed.ncbi.nlm.nih.gov

Comparison of up-front cash cards and checks as incentives for participation in a clinician survey: a study within a trial. [2021]

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

Participant Satisfaction With a Preference-Setting Tool for the Return of Individual Research Results in Pediatric Genomic Research. [2020]

7. Ireland pubmed.ncbi.nlm.nih.gov

Communicating unexpected pharmacogenomic results to biobank contributors: A focus group study. [2021]

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

Public interest in unexpected genomic findings: a survey study identifying aspects of sequencing attitudes that influence preferences. [2022]

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

Return of individual research results from genomic research: A systematic review of stakeholder perspectives. [2021]