Taila Hartley received her PhD in Population Health from the University of Ottawa, MSc in Genetic Counselling from the University of British Columbia, and MSc in Biochemistry from the University of Toronto. She is a certified genetic counsellor who specializes in interdisciplinary research. For more than a decade she has been the Operations Director of Care4Rare, a pan-Canadian consortium of clinicians and multi-disciplinary researchers devoted to improving clinical care for families with rare genetic diseases.
Her research interests span the continuum of translational research related to the use of new genetic technologies and approaches for rare disease diagnosis. This includes everything from new disease gene discovery, understanding the utility of research approaches with potential diagnostic benefit, generation of evidence-based clinical guidance, and the integrated knowledge translation of that guidance into the healthcare system.
Research Projects
-
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
26/02/2024
The introduction of genomic technologies, such as exome sequencing (ES), has created an opportunity to shorten the uncertain and emotionally taxing “diagnostic odyssey” experienced by families with suspected rare genetic diseases (RGDs).1, 2, 3 A meta-analysis has demonstrated a diagnostic yield of 36% for both clinical and research-based ES in the context of a broad range of RGD indications.4 However, studies have typically been retrospective analyses on convenience samples of patients or large cohorts with unspecified phenotypes reported by diagnostic laboratories. Despite few randomized-controlled trials, systematic reviews, and health technology assessments, health care systems in various jurisdictions have moved to implement ES as a clinical test.5 How jurisdictions optimize this test’s implementation will depend on their health care system and context. However, sharing empirical evidence of the utility of this test and policy processes that support its use can guide health care systems in these implementation efforts.6
-
Exome and genome sequencing for rare genetic disease diagnosis: A scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizations
01/11/2023
Over the past 12 years, exome sequencing and genome sequencing (ES/GS) technologies have transitioned from a research method used to identify new etiologies of rare genetic diseases (RGDs)1 to an implemented diagnostic test available to millions of patients with suspected RGDs and more common disorders through health care systems around the world (Birney E, Vamathevan J, Goodhand P. Genomics in healthcare: GA4GH looks to 2022. bioRxiv. 2017. https://doi.org/10.1101/203554). These technologies have produced a paradigm shift in the field of medical genetics, ushering in an era of genomic discovery and providing an opportunity to shorten long diagnostic odysseys in the clinic.2,3 This rapid pace of translation from research to clinical practice is unique among applications of genomic technologies related to precision medicine4 and has resulted in a significant challenge for health care system decision makers, including clinicians and payers, responsible for developing optimal, evidence-based clinical approaches using ES/GS testing in the context of a naive and rapidly evolving evidence base. Genetics health care professionals, including medical geneticists, laboratory geneticists, and genetic counselors, have been at the forefront of this challenge, tasked with identifying which families might benefit from ES/GS, running these tests, deciding what might be reported back to families (including findings unrelated to the primary indication for testing, hereon referred to as additional findings), and contextualizing these results. To support responsible and consistent practice among health care professionals within their membership, several organizations have generated guidance documents regarding the clinical implementation of ES/GS.
-
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
01/03/2023