Clinical trial · Interventional
Incidental Genomics
The Health Outcomes, Utility, and Costs of Returning Incidental Genomic Findings
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cancer | Malignant Neoplasm | ALIAS | 0.90 |
Interventions
Interventions (2)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| GS Results for Primary Indications only | Other | — | UNRESOLVED |
| Incidental Genomic Sequencing Results | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (2)
- type
- EXPERIMENTAL
- label
- Incidental Genomic Sequencing Results
- description
- 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.
- interventionNames
- Other: Incidental Genomic Sequencing Results
- type
- ACTIVE_COMPARATOR
- label
- Primary Indication only
- description
- Patients in the control will receive the intervention GS results for Primary Indications only.
- interventionNames
- Other: GS Results for Primary Indications only
Primary outcomes (1)
- measure
- Hospital Anxiety and Depression Scale (HADS)
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
Inclusion Criteria: * Affected with Cancer * Received a negative/inconclusive germline single gene test result for a cancer gene mutation (e.g., BRCA1/2, MLH, MSH, PMS, etc.) in the past two years * Or received a negative/inconclusive germline panel test result * 18 years old or older * Speak and read English Exclusion Criteria: * Are in advanced stage cancer (stage 4 /metastatic cancer) * Currently in active treatment (chemotherapy, radiation, scheduled surgery) - patients who are on Prophylactic Hormonal Therapy (eg tamoxifen) will be included * Received a positive genetic test for a cancer gene mutation (e.g., BRCA1/2, MLH, MSH, PMS, APC, MUTYH, etc.) * Have not had single gene germline testing related to their primary cancer condition (e.g., BRCA1/2 for breast/ovarian cancer, MLH, MSH, PMS colorectal cancer, etc.) * Previously received genomic sequencing for any reason * Currently pregnant or planning on getting pregnant (Including men whose partner is pregnant or planning). Participants who become pregnant over the course of the study will not be excluded. * Do not speak or read English * Under 18 years of age * Have a family member participating in the study * Participant in previous study of decision aid (Decision Aid RCT Study or Usability Study).
References
Publications (3)
- DERIVEDMighton C, Reble E, Sam J, Kodida R, Shickh S, Clausen M, Hirjikaka D, Grewal S, Panchal S, Piccinin C, Aronson M, Ward T, Armel SR, Peck L, Graham T, Silberman Y, Forster N, Capo-Chichi JM, Greenfeld E, Noor A, Cohn I, Morel CF, Elser C, Eisen A, Glogowksi E, Schrader KA, Kim RH, Chan KKW, Thorpe KE, Lerner-Ellis J, Bombard Y; Incidental Genomics Study Team. Opportunistic screening for broad range of medically relevant secondary findings: Laboratory benefits and burdens. Genet Med. 2026 Apr;28(4):101599. doi: 10.1016/j.gim.2025.101599. Epub 2025 Oct 14. PMID 41104539
- DERIVEDShickh S, Mighton C, Clausen M, Sam J, Hirjikaka D, Reble E, Graham T, Panchal S, Eisen A, Elser C, Schrader KA, Baxter NN, Laupacis A, Lerner-Ellis J, Kim RH, Bombard Y; Incidental Genomics Study Team. Clinical Utility of Genomic Sequencing for Hereditary Cancer Syndromes: An Observational Cohort Study. JCO Precis Oncol. 2024 Dec;8:e2400407. doi: 10.1200/PO-24-00407. Epub 2024 Dec 12. PMID 39666930
- DERIVEDShickh S, Clausen M, Mighton C, Gutierrez Salazar M, Zakoor KR, Kodida R, Reble E, Elser C, Eisen A, Panchal S, Aronson M, Graham T, Armel SR, Morel CF, Fattouh R, Glogowski E, Schrader KA, Hamilton JG, Offit K, Robson M, Carroll JC, Isaranuwatchai W, Kim RH, Lerner-Ellis J, Thorpe KE, Laupacis A, Bombard Y; Incidental Genomics Study Team. Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial. BMJ Open. 2019 Oct 7;9(10):e031092. doi: 10.1136/bmjopen-2019-031092. PMID 31594892