Rare Diseases

Postdoctoral Fellowship in the Economic Evaluation of Precision Medicine for Genetic Disease

Collaboration for Outcomes Research and Evaluation, Faculty of Pharmaceutical Sciences


Genetic technologies, in particular genomic sequencing, have emerged as a robust method of identifying pathogenic variants in previously undiagnosed individuals with rare diseases. Consequently, the number of diseases with a known genetic cause continues to increase in part due to greater utilization of genomic sequencing and rapidly improving sequencing and bioinformatics technology. More than ever, the pursuit of a genetic diagnosis is driven by the desire to improve targeted treatments for affected individuals. However, while the use of genome-wide sequencing is increasing, it is not currently available as a clinical test for most patients who need it due in part to its high cost relative to other diagnostic tests, limiting clinical care and potential access to targeted therapies as well as extending the diagnostic odyssey for these patients and their families.

Moreover, access to genomic technology is facilitating the development of targeted therapies for rare genetic diseases (including gene therapies) by elucidating the underlying molecular causes of disease. Indeed, approximately half of new molecular entities approved by the U.S. Food and Drug Administration in 2017 had an orphan designation, indicating that they are meant to treat a rare or ultra-rare condition. However, the growing availability of orphan drug treatments for rare genetic diseases poses a number of challenges for health care systems, the most pressing of which is the sustainability of funding costly orphan drugs that can carry a price tag of up to $3 million per patient per year.

Given the high cost of diagnosing and treating the growing number of known genetic diseases, there is an urgent need to build capacity in evaluating the current and future use of genomic technology and targeted therapies in the context of rare genetic diseases.  Economic evaluation, that includes well-informed epidemiologic data, is needed to assure equitable and cost-effective access to genomic testing, to fuel further research for better care for patients with serious genetic diseases, and to provide evidence to policy and decision makers regarding healthcare funding for certain diagnoses. This fellowship will afford the individual the opportunity to work on the cutting edge of health economics and policy research in precision medicine and contribute to informing the clinical implementation of genome-wide sequencing and treatment for rare genetic diseases in Canada.

Given this need for economic evaluation of emerging genetic technologies and targeted therapies, we are offering a PDF training opportunity through the Collaboration for Outcomes Research and Evaluation (CORE; in the Faculty of Pharmaceutical Sciences at UBC. CORE is currently involved in many projects focused on rare diseases treatment, diagnosis, and genomic technology. There are three notable studies on the diagnosis of genetic diseases: GenCOUNSEL, a research initiative investigating the optimization of the clinical implementation of genome-wide sequencing in Canada; CAUSES, a pilot study assessing the feasibility, clinical and economic impact of using genome-wide sequencing for undiagnosed children with unexplained severe diseases at BC Children’s Hospital; and a Canada/UK collaboration on the health economics of whole-genome sequencing, which includes discrete choice experiments exploring patient and public preferences about the delivery of genetic services. Additionally CORE is involved in a number of projects investigating the economic and policy challenges surrounding orphan drugs, specifically assessing the impact of reimbursement for expensive treatments for rare diseases and how to best inform decision making models about government funding for drug coverage for these expensive but potentially life changing interventions.

Applicants will have a PhD in epidemiology, health economics, health policy, health ethics/bioethics, human genetics, or a discipline related to the objective of conducting economic evaluations of treatments, technologies and programs; previous experience or demonstrated interest specific to the diagnosis and treatment of genetic diseases would also be an asset. The successful applicant will be responsible for research related to the economic evaluation of the implementation of genome-wide sequencing and the treatment of rare diseases including contributing to cost-effectiveness analyses and other economic models, conducting econometric and statistical analyses of empirical data, designing and implementing stated preference surveys, preparing grant applications and manuscripts, presenting research findings to different audiences, and other related activities.

Based at CORE, the Fellow will have a unique opportunity to be supervised and mentored by leading researchers, clinicians, and policy makers with expertise in this emerging area of specialization. The research environment at CORE will provide opportunities for the successful applicant to be become involved in multiple projects, integrate data from these projects to address novel questions, and take a leadership role on specific projects. The applicant will be required to provide a rationale and justification for applying for this Fellowship in the Economic Evaluation of Precision Medicine for Genetic Disease, and outline their specific learning objectives for the duration of the fellowship (2 years). Applications will be accepted until the position is filled.

Preferred start date is as soon as possible but is negotiable.  Please send a curriculum vitae, a cover letter describing your research experience and most significant research accomplishments, a statement of your research interests, and the contact information for three referees via email to:

Ms. Kennedy Borle

Collaboration for Outcomes Research and Evaluation

Faculty of Pharmaceutical Sciences

University of British Columbia




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