Outcome
Type |
Measure |
Description |
Time frame |
Safety issue |
Other |
Perceived Utility |
Perceived utility of genomic sequencing results will be measured using a scale from Lupo et al. Scale values range from 0-24, with higher scores indicating higher perceived utility of genomic sequencing results. (PMID: 27019659). |
1 year following return of results. |
|
Other |
Clinical actions triggered by genomic sequencing results |
Patient charts will be reviewed. The number and type of medical recommendations following GS will be quantified. |
1 year following return of results. |
|
Other |
Impact of genomic sequencing results on reproductive behaviors |
Participants will be asked about whether their genomic sequencing results have impacted their reproductive decisions or reproductive planning through questions adapted from Bombard et al. (PMID: 27256091). |
1 year following return of results. |
|
Other |
Decisional Conflict Scale (DCS) |
This standardized, validated measure will assess decisional conflict. Possible scores range from 0 to 100, with higher scores indicating higher decisional conflict (worse outcome). There are three subscales: Uncertainty, Informed, and Values Clarity. Scores on each subscale range from 0-100, with higher scores indicating worse outcome. (PMID: 7898294) |
1 year following return of results. |
|
Other |
Diagnostic yield |
Immediately after sequence analysis is complete, will record the number and frequencies of deleterious germline mutations related to the patients' phenotype over, and by subgroup: phenotype, extent of family history, transmission type, pathogenic/likely pathogenic, deleterious germline mutations known to be recurrently mutated by cancer type. |
Immediately after sequence analysis. |
|
Other |
Health Information National Trends Survey (HINTS) (Adapted) |
An adapted version of the HINTS questionnaire will assess how participants use and access health information. (https://hints.cancer.gov/) |
1 year following return of results. |
|
Other |
Economic impact of GS results |
Billing records held at the Institute for Clinical Evaluative Sciences (ICES) will be accessed to obtain information related to resource use following return of results, including physician visits, hospital visits, additional testing, and diagnostic tests. |
5 years following return of results. |
|
Other |
Costs incurred by participants - survey questions |
Participants will be asked to report personal costs associated with GS results, including out-of-pocket medications as well as peripheral costs such as transportation and lost wages. |
1 year following return of results. |
|
Other |
Communication of genomic sequencing results to relatives |
Communication of genomic sequencing results to relatives will be assessed through questions adapted from Bombard et al. that indicate which relatives they have communicated their results to (PMID: 27256091). |
1 year following return of results. |
|
Other |
Cascade genetic testing among relatives |
Participants will be asked about which relatives, to their knowledge, have received genetic testing as a result of learning the participant's genome sequencing results. |
1 year following return of results. |
|
Other |
Cascade health behaviors among relatives |
Participants will be asked about which relatives, to their knowledge, have changed their health behaviors as a result of the participant's genome sequencing results. |
1 year following return of results. |
|
Other |
Perceptions of uncertainties in genomic sequencing (PUGS) scale |
This standardized, validated measure assesses perceptions of uncertainty. Scores range from 1 to 5, with higher scores indicating higher perceptions of uncertainty. (PMID: 27925165) |
1 year following return of results. |
|
Other |
Tolerance of ambiguity scale |
This scale measures participants' tolerance of ambiguity. Scores range from 7 to 49, with higher scores indicating higher tolerance for ambiguity. (PMID: 8231339) |
1 year following return of results. |
|
Primary |
Hospital Anxiety and Depression Scale (HADS) |
Our primary outcome is distress, measured by the Hospital Anxiety & Depression Scale (HADS) using a validated cut-off of >11 on either the anxiety or depression subscale. The Hospital Anxiety and Depression Scale measures clinically significant anxiety and depression. There are two subscales, anxiety (7 items) and depression (7 items). Scores on each subscale range from 0-21, with higher scores indicating worse outcome (higher anxiety or depression). Subscale scores are not combined for a total score. (PMID: 6880820, 25005549) |
2 weeks after return of results |
|
Secondary |
Impact of Event Scale-Revised (IES-R) |
The Impact of Event Scale-Revised (IES-R) is a standardized, validated scale that measures symptoms of traumatic stress. The IES-R comprises of three subscales: Intrusion (8 items), Avoidance (8 items), and Hyperarousal (6 items). The IES-R yields a total score that ranges from 0-88, with higher scores indicating worse outcomes. Scores on the Intrusion subscale range from 0-32, with higher scores indicating worse outcomes. Score on the Avoidance subscale range from 0-32, with higher scores indicating worse outcomes. Scores on the Hyperarousal subscale range from 0-24, with higher scores indicating worse outcomes. (PMID: 23243796) |
1 year following return of results. |
|
Secondary |
Multi-Dimensional Impact of Cancer Risk Assessment (MICRA) |
The Multi-Dimensional Impact of Cancer Risk Assessment (MICRA) is a 25-item standardized, validated scale that measures the impact of result disclosure from genetic tests. There are three subscales: Distress (6 items), Uncertainty (9 items) and Positive Experiences (4 items). Total scores range from 0-125, with higher scores indicating worse outcome. Scores on the Distress subscale range from 0-30, with higher scores indicating worse outcome. Scores on the Uncertainty subscale range from 0-45, with higher scores indicating worse outcome. Scores on the Positive Experiences Subscale range from 0-20, with higher scores indicating worse outcomes. (PMID: 12433008) |
1 year following return of results. |
|
Secondary |
Adapted Behavioral Risk Factor Surveillance System (BRFSS) Questionnaire |
We will assess the intended use and actual adoption of risk-reducing behaviours and preventative services across all RCT participants using CDC's Behavioural Risk Factor Surveillance System (BRFSS) questionnaire. We have adapted the BFRSS to examine whether the receipt of GS results influences participants' intent to adopt, and actual self-reported adoption of: screening, prophylactic surgery, dietary changes, reduced alcohol intake, increased exercise, adherence/changes to medication, and smoking cessation (beyond those taken due to their cancer diagnosis). Self-reported actual or intended use of these behaviours will be ascertained over the telephone. Higher scores indicate higher uptake of health behaviours. |
1 year following return of results. |
|
Secondary |
SF-12 |
The SF-12 scale measures quality of life. The SF-12 has 12 items that address physical and mental functioning. Physical and mental health composite scores range from 0 to 100, with 0 indicating the lowest possible level of health, and 100 indicating the highest possible level of health. |
1 year following return of results. |
|
Secondary |
Genetic Self Efficacy (GSE) |
Consistent with the Extended Parallel Process Model (EPPM) which suggests that that higher risk results could motivate individuals to adopt risk-reducing behaviors if they perceive an increased risk of disease, as long as self-efficacy is also high, we will assess genetic self-efficacy using a standardized, validated measure (PMID: 20884465). |
1 year following return of results. |
|
Secondary |
Risk Perception |
Consistent with the Extended Parallel Process Model (EPPM) which suggests that that higher risk results could motivate individuals to adopt risk-reducing behaviors if they perceive an increased risk of disease, as long as self-efficacy is also high, we will assess risk perception. Participants will be asked to report their perceived likelihood of developing diseases related to their incidental results. For each disease risk, scores range from 1 to 5, and higher scores indicate higher perceived risk. (PMID: 16969872, 24131974) |
1 year following return of results |
|
Secondary |
Qualitative interviews with a subset of patients |
We will use in-depth interviews with patients to provide further insights into the ways in which incidental results impact the quality of life and health outcomes of cancer patients receiving incidental results. Patient interviews will explore: reasons for learning incidental GS results, to whom, how and why results have been communicated, perceived utility and impact of incidental results for personal, familial or life planning. |
9-12 months following return of results |
|
Secondary |
Qualitative interviews with a subset of practitioners |
Provider interviews will explore: improvements to patient management and treatment decisions on the basis of their patients' incidental results and their perceptions of the clinical, familial and personal benefits or harms of these results for patients. Interviews will also explore providers' views on any physical or physiological impacts that receipt of incidental results have had on patients. |
9-12 months following return of results |
|