Current Projects

The Bombard Lab is currently working on the following projects:

• Genetics Navigator
• Genetics Adviser
• Circulating Tumour DNA Study
• Incidental Genomics

Genetics Navigator

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.

Genetics Adviser

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.

Circulating Tumour DNA Study

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.

Incidental Genomics Study

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.

Genomics ADvISER

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.

Real World Evidence in Cancer Drug Funding

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.

Clinical Translation of New Genomic Technologies

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.

Genome Kids!

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.

Public Genomics

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.

Health Technology Assessment

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.

Patient & Public Engagement

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.

Publications on this topic can be found here.

Influence of Oncotype Dx on breast cancer treatment

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.

Implementing a provincial program for Lynch Syndrome Screening

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.

Benefits & Risks of Expanded Newborn Screening

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.

Genetic discrimination among the Huntington disease population in Canada

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.

Research Funding

We thank the following agencies for funding our research:

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