The rising demand for genetic counseling has prompted the implementation of various innovative service delivery models, such as patient webinars, videos, chatbots, and the integration of genetic testing into mainstream healthcare. To ensure patients receive adequate information for informed decision-making, validated measures to assess these models are essential but currently limited in the setting of inherited heart disease. We aimed to develop and initiate validation of a cardiac knowledge scale, as part of the Multidimensional Model of Informed Choice measure, to assess whether patients (probands and family members) with inherited cardiomyopathies, arrhythmias, and aortopathies are provided with sufficient knowledge to make informed decisions about genetic testing.
View Article and Find Full Text PDFCollectively, rare diseases are common, affecting approximately 8% of the population in Canada and the USA. Therefore, the majority of primary care (PC) clinicians will care for patients who are affected or at risk for a genetic disease. Considering the increasing ways in which genetics is being implemented into all areas of healthcare, one way to address these needs and expand the capacity of the PC workforce is through the integration of genetic counselors (GCs) into PC multidisciplinary teams.
View Article and Find Full Text PDFOver the last decade, utilization of clinical genetics services has grown rapidly, putting increasing pressure on the workforce available to deliver genetic healthcare. To highlight the policy challenges facing Canadian health systems, a needs-based workforce requirements model was developed to determine the number of Canadian patients in 2030 for whom an assessment of hereditary cancer risk would be indicated according to current standards and the numbers of genetic counsellors, clinical geneticists and other physicians with expertise in genetics needed to provide care under a diverse set of scenarios. Our model projects that by 2030, a total of 90 specialist physicians and 326 genetic counsellors (1.
View Article and Find Full Text PDFRapid growth in the volume of referrals to clinical genetics services in many countries during the past 15 years makes workforce planning a critical policy tool in ensuring that the capacity of the clinical genetics workforce is large enough to meet current and future needs. This article explores the distinctive challenges of workforce planning in clinical genetics and provides recommendations for addressing these challenges using a needs-based planning approach. Specifically, at least 3 features complicate efforts to estimate the need for clinical genetic services: the difficulty in linking many clinical genetic services to concrete health outcomes; the rapidly changing nature of genetic medicine, which creates intrinsic uncertainty about the appropriate level of service; and the heightened relevance of patient preferences in this context.
View Article and Find Full Text PDFObjectives: Increasing access to health data through biobanks containing genetic information has the potential to expand the knowledge base and thereby improve screening, diagnosis, and treatment options for many diseases. Nevertheless, although privacy concerns and risks surrounding genetic data sharing are well documented, direct evidence in favor of the hypothesized benefits of data integration is scarce, which complicates decision making in this area. Therefore, the objective of this study is to summarize the available evidence on the research and clinical impacts of biobanks containing genetic information, so as to better understand how to quantify the value of expanding genomic data access.
View Article and Find Full Text PDFBackground: The genetic counseling outcome scale (GCOS-24) is commonly used in clinical genetics to measure patient empowerment; however, there is inconclusive psychometric evidence about this scale.
Methods: Using data from an urban Canadian clinic where the GCOS-24 is routinely administered before (T1) and 1 month after (T2) genetic counseling, we used Rasch measurement theory (RMT) to test the ordering of response option thresholds, fit, spread of item locations, residual correlations, person separation index (PSI), and stability across time.
Results: Data from 379 participants showed that the original GCOS-24 items had poor fit to the Rasch model (χ = 367.
The number of people accessing their own polygenic risk scores (PRSs) online is rapidly increasing, yet little is known about why people are doing this, how they react to the information, and what they do with it. We conducted a qualitative interview-based study with people who pursued PRSs through Impute.me, to explore their motivations for seeking PRS information, their emotional reactions, and actions taken in response to their results.
View Article and Find Full Text PDFDriven by technological and scientific advances, the landscape of genetic medicine is rapidly changing, which complicates strategic planning and decision-making in this area. To address this uncertainty, we sought to understand genetic professionals' opinions about the future of clinical genetic and genomic services in Canada. We used the Delphi method to survey Canadian genetic professionals about their perspectives on whether scenarios about changes in service delivery and the use of genomic testing would be broadly implemented in their jurisdiction by 2030.
View Article and Find Full Text PDFGenCOUNSEL is the largest genetic counseling research grant awarded to date and brings together experts in genetic counseling, genomics, law and policy, health services implementation, and health economics research. It is the first project of its kind to examine the genetic counseling issues associated with the clinical implementation of genome-wide sequencing (exome and genome sequencing). GenCOUNSEL is a Canadian-based, multi-method research study that takes place over a variety of sites, including non-clinical, clinical, and laboratory research sites and includes the training of undergraduate and graduate students.
View Article and Find Full Text PDFWe sought to explore individuals' motivations for using their direct-to-consumer genetic testing data to generate polygenic risk scores (PRSs) using a not-for-profit third-party tool, and to assess understanding of, and reaction to their results. Using a cross-sectional design, users of Impute.me who had already accessed PRS results were invited to complete an online questionnaire asking about demographics, motivations for seeking PRSs, understanding and interpretation of PRSs, and two validated scales regarding reactions to results-the Impact of Event Scale Revised (IES-R) and the Feelings About genomiC Testing Results (FACToR).
View Article and Find Full Text PDFObjective: The aim of this review was to summarize all available evidence on the cost effectiveness of potentially curative gene therapies and identify challenges that economic evaluations face in this area.
Methods: We conducted a systematic review of four databases (PubMed/MEDLINE, Embase, CINAHL, EconLit) and grey literature sources. We conducted the search on August 23, 2019 and updated it on November 26, 2020.
Ongoing rapid growth in the need for genetic services has the potential to severely strain the capacity of the clinical genetics workforce to deliver this care. Unfortunately, assessments of the scale of this health policy challenge and potential solutions are hampered by the lack of a consolidated evidence base on the growth in genetic service utilization. To enable health policy research and strategic planning by health systems in this area, we conducted a scoping review of the literature on the utilization and uptake of clinical genetics services in high-income countries published between 2010 and 2018.
View Article and Find Full Text PDFAs genetics becomes increasingly integrated into all areas of health care and the use of complex genetic tests continues to grow, the clinical genetics workforce will likely face greatly increased demand for its services. To inform strategic planning by health-care systems to prepare to meet this future demand, we performed a scoping review of the genetics workforce in high-income countries, summarizing all available evidence on its composition and capacity published between 2010 and 2019. Five databases (MEDLINE, Embase, PAIS, CINAHL, and Web of Science) and gray literature sources were searched, resulting in 162 unique studies being included in the review.
View Article and Find Full Text PDFAcute increases in blood glucose are associated with heightened muscle sympathetic nerve activity (MSNA). Animal studies have implicated a role for peripheral chemoreceptors in this response, but this has not been examined in humans. Heart rate, cardiac output (CO), mean arterial pressure, total peripheral conductance, and blood glucose concentrations were collected in 11 participants.
View Article and Find Full Text PDFHigh-altitude natives employ numerous physiological strategies to survive and reproduce. However, the concomitant influence of altitude and physical activity during pregnancy has not been studied above 3,700 m. We report a case of physical activity, sleep behavior, and physiological measurements on a 28-yr-old third-trimester pregnant native highlander (Sherpa) during ascent from 3,440 m to Everest Base Camp (~5,300 m) over 8 days in the Nepal Himalaya and again ~10 mo postpartum during a similar ascent profile.
View Article and Find Full Text PDFIntra-individual variability in the magnitude of human cerebrovascular and respiratory chemoreflex responses is largely unexplored. By comparing response magnitudes of cerebrovascular CO reactivity (CVR; middle and posterior cerebral arteries; MCA, PCA), central (CCR; CO) and peripheral respiratory chemoreflexes (PCR; CO and O), we tested the hypothesis that a within-individual reactivity magnitude profile could be characterized. The magnitudes of CVR and CCR were tested with hyperoxic rebreathing and PCR magnitudes were tested through transient respiratory tests (TT-CO, hypercapnia; TT-N, hypoxia).
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