The Bombard Lab is currently working on the following projects:
• Genetics Navigator
• Genetics Adviser
• Circulating Tumour DNA Study
• Equity in Cancer Genetics
• Direct & Indirect Socioeconomic Impacts of Hereditary Cancer Syndromes
• Mainstream Adviser
• Recontact Study
• Core Utility Set for WGTS in Precision Oncology
• Measuring Quality of Precision Oncology
• Equity in Economic Evaluations
COVID-19 has launched our community of practice into a new reality of digital care. The pandemic has revealed the urgency of virtual interventions to minimize interruptions and comprised access to care. Now more than ever, these solutions are essential to accessing health services and optimizing their delivery. In clinical genetics, significant wait times and workforce shortages create barriers to timely diagnosis that can end long diagnostic odysseys for patients looking for answers. Patient portals improve medication adherence, preventative care, and clinical outcomes. But there is no platform that facilitates a patient’s entire genetic testing journey – from consent, education, counseling, test results, management to follow-up. The Genetics Navigator is the first and only digital application to deliver the full spectrum of clinical genetic services. The Genetics Navigator can improve access, reduce wait times and administrative burdens that increase efficiencies, allowing doctors to focus on the people that matter most – the patient.
Publications on this this topic can be found here.
Genomic sequencing is increasingly being used in genetic medicine to diagnose and optimize care for patients with rare genetic disorders.This technology also has the ability to detect a patient’s risk for thousands of current and future conditions (incidental genetic findings) not related to the patient’s main health condition. As a result, these patients have to make a decision about what types of incidental findings they would like to learn about before undergoing genomic sequencing. It is not feasible to counsel patients on the thousands of possible results because of the limited clinical resources and genomics expertise. Digital health tools can help fill this gap, however, there are currently no such tools available. Thus, we have developed the Genetics Adviser which will deliver education, counselling, and return of results for patients undergoing various forms of genomic testing. The Genetics Adviser is an interactive digital application that is designed to accommodate the needs of different types of patients, test modalities, and results.
Publications on this this topic can be found here.
Hereditary cancer syndromes (HCS) patients are at high lifetime risk for developing multiple cancers but there are limited screening strategies to detect all potential cancers. This study aims to develop a circulating tumour DNA (ctDNA) HCS screening test that can detect early cancer onset, explore the clinical utility of ctDNA testing, and evaluate the cost-effectiveness of adopting ctDNA testing. Our evidence on the clinical- and cost-effectiveness of ctDNA screening will inform decision makers evaluating ctDNA for provincial funding and reimbursement decisions.
Publications on this this topic can be found here.
Cancer screening of high-risk populations for predisposition genes (e.g., breast cancer and BRCA1/2) is critical for early detection, cancer prevention and genetic testing for at-risk relatives. Yet, there are racial and ethnic disparities at every stage of the genetics service pathway: racialized and ethnic individuals are less likely to be referred for genetic tests and are more likely to receive inconclusive genetic test results, partly due to the current data sources and analytical approaches being inherently biased towards individuals from European ancestry. These can be barriers to appropriate screening for, and prevention of, cancer. We will use multiple methods to 1) explore experiences, needs, barriers, and enablers to accessing cancer genetics services and participating in genetics research among racialized and ethnic patients and among health care providers, 2) characterize the nature and extent of racial and ethnic disparities in cancer genetics services, genetic diagnoses, and recommendations for risk-reducing management, and 3) create a best practice guide for conducting equitable genetics research with underserved populations. This will center the voices and experiences of populations experiencing these disparities and will lay the foundation to co-design interventions integral to equitable research and clinical genetics practices.
Hereditary cancer syndromes (HCS) are one of the most common forms of inherited diseases. The system of care to access and coordinate investigations for HCS families is fragmented, resulting in significant indirect socio-economic burdens on HCS patients and families, including societal and patients’ out-of-pocket costs for care, travel to medical appointments, childcare, income loss, insurance concerns, and supportive care. These burdens are layered on top of the emotional distress and uncertainty of living with an inherited condition, risks to family members, and social concerns such as genetic discrimination. Our study will assess the indirect socio-economic impacts of fragmented HCS care to the patient across jurisdictions with varying care systems, populations and genomic testing technologies.
To reduce pressure on already constrained genetics clinics across Canada, some cancer centres are ‘mainstreaming’ genetic testing, whereby genetic testing is initiated and mediated by oncologists without traditional pre-test genetic counselling. There is no standard, evidence-based approach to ‘mainstreaming’, leading to significant practice variation, a lack of coordinated care, and ultimately, negative psychological impacts on patients. While digital solutions can address these gaps, a digital mainstreaming platform for cancer genetics services does not exist, nor has any prior mainstreaming model assessed clinical-effectiveness and service delivery outcomes. We will co-design and test a digital mainstreaming platform, the Mainstream Adviser, building on our rigorously-evaluated digital health application called the Genomics Adviser.
Genomic sequencing (GS) can generate thousands of variants for each patient undergoing testing. Variants are reclassified over time and can have clinical implications, presenting practical challenges to recontacting patients. Patients expect to be recontacted with updated results and favour platforms especially for uncertain results, which are reclassified most frequently. Yet, recontact is burdensome for providers and patients, causing practice variation between clinics and potentially delaying appropriate management. For patients, being ‘in the dark’ during the waiting period, wondering if they might receive updated results and how these results might impact their health, can be distressful. The need for effective and practical methods to support patients receiving updated GS results will continue to rise, as the use of GS increases. Digital platforms offer feasible and scalable solutions to deliver updates, yet their effectiveness is unknown. Our study aims to develop a patient-facing platform to return updated genomic results, and evaluate its effectiveness in a randomized controlled trial returning updated GS results to patients.
Decision makers evaluating new medical technologies for provincial funding require independent, evidence-based information for making coverage and reimbursement decisions. Key factors in health technology assessment include utility, cost-effectiveness, user perspectives, and system feasibility. Assessing genomic diagnostic technologies like whole-genome and transcriptome sequencing (WGTS) in precision oncology is challenging due to a lack of relevant metrics. WGTS, a comprehensive diagnostic tool, can provide valuable insights into various oncology aspects, such as tumor characterization, patient risk stratification, treatment options, and surveillance strategies. Therefore, it is essential to identify the key metrics for evaluating WGTS’s clinical utility in oncology. This study aims to establish a consensus-based minimum dataset of key metrics by collaborating with clinicians and decision makers, ensuring a thorough assessment and informed decision-making. This effort supports the Marathon of Hope Cancer Centres Network (MOHCCN) in creating a structured approach to measure quality-controlled genomic data for the Gold Cohort initiative.
Evaluating the clinical validity and utility of genomics is critical for real-time clinical decision-making in order to provide effective precision cancer care. Quality metrics and quality improvement in precision oncology remain insufficiently addressed topics globally. This study will identify a suite of patient-centered consensus-based precision oncology clinical quality indicators that will be informed by the completion of qualitative patient interviews. Qualitative interview guides will focus on patients’ views of the clinical utility of comprehensive genomic profiling (CGP). Analysis of these interviews will be used to identify main themes that will inform the development of clinical quality indicators that are relevant and critical to patients. The generation of quality metrics will contribute to the efforts of the Marathon of Hope Cancer Centres Network (MOHCCN) to enhance pan-Canadian readiness for measuring and enhancing quality in precision oncology given the increasing adoption of CGP in Canada and worldwide.
Health inequity is the avoidable and unfair differences in health outcomes among groups of people. The marginalized communities in Canada experience shorter lifespans and limited access to health services. Decision-makers are tasked with designing programs and allocating resources to reduce inequalities. However, they need guidance on incorporating equity considerations for economic evaluation (EE) in health policies. EE assess health policy benefits and costs but often overlook their impact on diverse populations. This multi-site study will develop guidance for researchers and decision-makers using equity-informative EE methodology to predict how health programs might affect disadvantaged populations. The study aims include (1) working with decision-makers and public/patient groups to understand challenges and opportunities for equity integration into EE, (2) conducting a public survey to quantify aversion to health inequalities, and (3) developing examples of equity-informative evaluations for cancer screening and pneumonia vaccination programs. St. Michael’s Hospital, Unity Health Toronto, will be leading aim 1 interviews.
Guidelines recommend that doctors share incidental results from genomic sequencing (GS) with their patients. However, the benefits and harms of sharing these types of extra results are unknown. Through this study, Dr. Bombard and her team will examine the preferences, outcomes and costs of returning incidental results among patients and the health care system.
Publications on this topic can be found here.
While health care providers are increasingly using genomic sequencing (GS) to develop targeted treatment for patients, no decision aid exists to guide patients’ decisions when it comes to the possibility of receiving incidental results and which of these they wish to learn. This study aims at developing an effective online decision aid that conveys the key concepts, risks and benefits of learning about incidental findings to prepare patients for decision-making. It will be evaluated when used in combination with genetic counseling versus counseling alone in a randomized controlled trial.
Publications about the Genomics ADvISER can be found here.
Drug funding decisions and clinical practice have long been informed by clinical trial data and predictive economic modeling in the absence of real world data. However, there are many reasons why real world results may differ from those generated in clinical trials. As a result, policy-makers have little information on whether their investments based on funding decisions informed by clinical trials ultimately yield the outcomes and value for money they expected. This project aims to develop a framework to guide the incorporation of Real World Evidence (RWE) into existing drug funding processes. Dr. Bombard and her team will be involved in conducting qualitative interviews with important stakeholders about their perceptions of barriers and facilitators to RWE uptake, best practices for implementation, and lessons learned.
Publications on this topic can be found here.
The current state of genomic knowledge focuses on gene discovery and validity of emerging tests; few studies evaluate the value and health outcomes of adopting new genomic tests or technologies in practice. There is a critical need to build the evidence base on their benefits and harms, impact on health outcomes and health service use. These are the themes of our research program, which seeks to evaluate the use and impacts of adopting new genomic technologies in heath care, to ensure appropriate clinical care for patients, improved health outcomes and to support health services and policy development within a sustainable health care system.
Publications on this topic can be found here.
Parents of healthy children are being asked to enroll their children in research studies involving genome sequencing to explore how lifestyle, environment and genetics can affect health and development over time. Genome sequencing can provide disease-risk information for a wide range of childhood-onset and adult-onset diseases, some of which can be prevented and others which cannot. Returning genome sequencing results in a healthy pediatric population poses ethical, health service delivery and health policy challenges. At present, very little work has been done to evaluate parents’ and providers’ views and preferences surrounding the return of genome sequencing results in this context. This study aims to explore parents’ preferences, values and concerns related to learning genome sequencing results for their healthy child, as well as providers’ views on the utility, value and risks of genome sequencing in a healthy pediatric population.
Publications about Genome Kids! can be found here.
Genome sequencing is increasingly used in oncology to inform diagnosis, prognosis and management. Genome sequencing is also increasingly available to the public through Personal Genome Projects which aim to advance understanding of disease etiology and improve clinical care. Genome sequencing may reveal secondary findings about inherited risks for many different diseases. In some instances, these results may lead to investigations or preventive health management, which could improve outcomes and save costs for the healthcare system. However, there is concern that the magnitude of these secondary findings may create a surge of pressure on the healthcare system as individuals discuss their results with healthcare providers and seek support, interpretation and additional tests and procedures. There is limited data on the likely uptake of secondary genome sequencing results among cancer patients and the public, reflecting likely recipients of GS. Estimating the uptake and actions taken on basis of genome sequencing results is important to optimize counseling (e.g., communicating results & managing anxiety) and project health service use (e.g., follow up visits, tests or procedures, etc.). This study aims to project the uptake and use of genome sequencing results via a survey and discrete choice experiment administered to cancer patients and members of the public.
Publications on this this topic can be found here.
Clinical and policy decision-making for health technologies is typically informed by a systematic assessment of their clinical- and cost-effectiveness, their impact on health services, and consistency with societal and ethical values. This evaluation is a fundamental step in the appropriate and effective translation of any new test or technology into health care, and is referred to as health technology assessment.
Publications on this this topic can be found here.
In partnership with policy and decision makers, we engage patients and the public to inform funding decisions for adopting new technologies entering the health care system.
Gene expression profiling (GEP) of tumours, such as the Oncotype Dx test, informs baseline risk prediction, potentially affecting adjuvant chemotherapy decisions for women with early-stage breast cancer. The first phase of this larger, mixed-methods study was a qualitative study consisting of focus groups and interviews to explore patient perceptions of GEP testing and the resulting impact on cancer therapy decisions. The second phase of this study used a quantitative survey, which included a discrete choice experiment, to estimate the utility of GEP testing relative to other factors.
Publications on this topic can be found here.
Lynch cancer family syndrome is a common genetic cancer syndrome that increases risk of developing various cancers. Reflex testing is an automatic testing on the tumour issue of all patients with colon cancer for markers that indicate high risk for LS. The first study conducted by the research team surrounding LS screening involved the development of a plan for implementing a routine program for identifying patients with LS in Ontario through interviews with representatives from a variety of different medical and health related backgrounds. The second study examined health care providers’ views and experiences in order to inform the design of a reflex testing program and their perspectives on an opt-out option for patients.
Publications on this topic can be found here.
Newborn bloodspot screening (NBS) panels have expanded to include conditions for treatment effects are less certain, creating debate about population-based screening criteria. Using eight focus groups, this study investigated Canadian public expectations and values regarding the types of conditions that should be included in NBS and whether parents should provide consent.
Publications on this topic can be found here.
While powerful new technologies have emerged from the growing field of genomics, it has also produced fear of misuse of genetic information. Genetics discrimination refers to the perceived unfair treatment of individuals or their family members based on presumed or actual genetic differences as opposed to their physical features. This study investigated the nature and prevalence of genetic discrimination experienced by people at risk for Huntington’s disease who had undergone genetic testing or remained untested using self-reported experiences of genetic discrimination and related psychological distress based on family history or genetic test results.
Publications on this topic can be found here.
