Genomic Sequencing Results for Cancer

Recruiting at 2 trial locations

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: Unity Health Toronto

Disqualifiers: Advanced cancer, Active treatment, Positive genetic test, others

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

Compensation: Varies

Number of Visits: 1

289 Participants Needed

Trial Summary

Will I have to stop taking my current medications?

The trial does not specify if you need to stop taking your current medications. However, if you are on active cancer treatment like chemotherapy or radiation, you cannot participate. If you are on Prophylactic Hormonal Therapy, you can still join the trial.

What data supports the effectiveness of the treatment GS Results for Primary Indications only, Incidental Genomic Sequencing Results?

The research shows that next-generation sequencing (NGS) can identify important genetic changes in cancer that might not be found with other tests, which can help guide treatment decisions. In particular, NGS improved the detection of certain genetic variants in melanoma and colorectal cancer, potentially impacting patient management. ^{1 2 3 4 5}

Is genomic sequencing for cancer generally safe for humans?

Genomic sequencing for cancer is generally considered safe, but it can reveal unexpected genetic information that may have implications for family members. Studies show that patients often handle these incidental findings well, with no major adverse psychological effects reported. ^{1 6 7 8 9}

How does the treatment 'GS Results for Primary Indications only' differ from other cancer treatments?

This treatment uses genomic sequencing to identify specific mutations in a patient's tumor, allowing for personalized therapy selection based on these mutations. Unlike traditional treatments, it involves analyzing both tumor and normal DNA to accurately identify tumor-specific changes, reducing false positives and improving treatment precision. ^{2 10 11 12 13}

What is the purpose of this trial?

Health care providers (HCP) are increasingly using genomic sequencing (GS) to diagnose diseases and target treatment for patients. However, GS may incidentally reveal inherited risks for thousands of current and future diseases. Guidelines recommend HCP inform patients of incidental GS results. GS is a relatively new technology, raising many questions about its adoption in clinical care, including: What are the psychological harms, health outcomes, clinical utility and economic costs of receiving primary and incidental GS results? We will use a randomized controlled trial (RCT) to evaluate whether patients receiving incidental GS results will report higher levels of distress and more risk reducing behaviors compared to patients receiving GS for their primary indication alone. We will explore the personal utility of GS via in-depth interviews with a subset of patients. Clinical utility for cancer and incidental results will be evaluated through diagnostic yield, clinical actions triggered by GS results and in-depth interviews with a subset of patients and providers. The economic impact will be evaluated in two ways: (a) health service use will be assessed retrospectively using billing records from the Institute of Clinical Evaluative Sciences (ICES); and, (b) participants' personal costs incurred as a result of GS will be assessed via surveys. Participants will be adult cancer patients who have received negative single gene or panel test results and who have been determined by their health care provider to be a candidate for GS.

Research Team

Yvonne Bombard, PhD

Principal Investigator

St. Michael's Hospital and University of Toronto

Eligibility Criteria

Adult cancer patients who speak and read English, have previously had inconclusive or negative results from specific genetic tests for cancer mutations (like BRCA1/2), and are considered candidates for genomic sequencing by their healthcare provider.

Inclusion Criteria

I have cancer.

My genetic test for cancer risk came back negative or unclear.

You can understand and communicate in English.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Genomic Sequencing and Result Return

Participants' genomes will be sequenced and interpreted. Results will be returned by a genetic counselor.

4-6 weeks

1 visit (in-person) for result return

Follow-up

Participants are monitored for psychological distress, clinical utility, and economic impact of genomic sequencing results.

1 year

Multiple assessments over the year

Long-term Follow-up

Assessment of long-term costs and health outcomes associated with genomic sequencing results.

5 years

Treatment Details

Interventions

• GS Results for Primary Indications only
• Incidental Genomic Sequencing Results

Trial Overview This trial is studying the effects of receiving incidental genomic sequencing results in addition to primary disease-related findings. It compares the psychological impact, health behaviors, clinical utility, and economic costs between those who get extra incidental findings and those who don't.

Participant Groups

Group I: Incidental Genomic Sequencing Results Experimental Treatment 1 Intervention

Patients in Intervention will receive GS results related to primary indication (cancer) and will be offered the option learning their incidental results, categorized into five "bins" based on a framework by Berg et al.

Group II: Primary Indication only Active Control 1 Intervention

Patients in the control will receive the intervention GS results for Primary Indications only.

Who Is Running the Clinical Trial?

Unity Health Toronto

Lead Sponsor

Trials

572

Recruited

470,000+

References

1. England pubmed.ncbi.nlm.nih.gov

Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. [2022]

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

Assessing the Diagnostic Yield of Targeted Next-Generation Sequencing for Melanoma and Gastrointestinal Tumors. [2021]

3. England pubmed.ncbi.nlm.nih.gov

Clinical utility of comprehensive genomic profiling tests for advanced or metastatic solid tumor in clinical practice. [2022]

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

Building a Robust Tumor Profiling Program: Synergy between Next-Generation Sequencing and Targeted Single-Gene Testing. [2022]

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

Genetic Counseling and Germline Testing in the Era of Tumor Sequencing: A Cohort Study. [2023]

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

Tumor genome analysis includes germline genome: are we ready for surprises? [2021]

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

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. [2022]

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

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests. [2022]

9. Netherlands pubmed.ncbi.nlm.nih.gov

Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and impact on patients. [2021]

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

Personalized genomic analyses for cancer mutation discovery and interpretation. [2022]

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

Laboratory and Clinical Implications of Incidental and Secondary Germline Findings During Tumor Testing. [2022]

12. China pubmed.ncbi.nlm.nih.gov

BRCA sequencing of tumors: understanding its implications in the oncology community. [2021]

13. England pubmed.ncbi.nlm.nih.gov

Clinical sequencing using a next-generation sequencing-based multiplex gene assay in patients with advanced solid tumors. [2022]