Screening for hypertension in adults: protocol for evidence reviews to inform a Canadian Task Force on Preventive Health Care guideline update.

PURPOSE: To inform updated recommendations by the Canadian Task Force on Preventive Health Care on screening in a primary care setting for hypertension in adults aged 18 years and older. This protocol outlines the scope and methods for a series of systematic reviews and one overview of reviews. METHODS: To evaluate the benefits and harms of screening for hypertension, the Task Force will rely on the relevant key questions from the 2021 United States Preventive Services Task Force systematic review. In addition, a series of reviews will be conducted to identify, appraise, and synthesize the evidence on (1) the association of blood pressure measurement methods and future cardiovascular (CVD)-related outcomes, (2) thresholds for discussions of treatment initiation, and (3) patient acceptability of hypertension screening methods. For the review of blood pressure measurement methods and future CVD-related outcomes, we will perform a de novo review and search MEDLINE, Embase, CENTRAL, and APA PsycInfo for randomized controlled trials, prospective or retrospective cohort studies, nested case-control studies, and within-arm analyses of intervention studies. For the thresholds for discussions of treatment initiation review, we will perform an overview of reviews and update results from a relevant 2019 UK NICE review. We will search MEDLINE, Embase, APA PsycInfo, and Epistemonikos for systematic reviews. For the acceptability review, we will perform a de novo systematic review and search MEDLINE, Embase, and APA PsycInfo for randomized controlled trials, controlled clinical trials, and observational studies with comparison groups. Websites of relevant organizations, gray literature sources, and the reference lists of included studies and reviews will be hand-searched. Title and abstract screening will be completed by two independent reviewers. Full-text screening, data extraction, risk-of-bias assessment, and GRADE (Grading of Recommendations Assessment, Development and Evaluation) will be completed independently by two reviewers. Results from included studies will be synthesized narratively and pooled via meta-analysis when appropriate. The GRADE approach will be used to assess the certainty of evidence for outcomes. DISCUSSION: The results of the evidence reviews will be used to inform Canadian recommendations on screening for hypertension in adults aged 18 years and older. SYSTEMATIC REVIEW REGISTRATION: This protocol is registered on PROSPERO and is available on the Open Science Framework (osf.io/8w4tz).

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

BACKGROUND: Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, we aimed to assess the feasibility of prospective measurement of these core outcomes during routine metabolic clinic visits. METHODS: We used existing cohort data abstracted from charts of 124 children diagnosed with MCAD deficiency who participated in a Canadian study which collected data from birth to a maximum of 11 years of age to investigate the frequency of clinic visits and quality of metabolic chart data for selected outcomes. We recorded all opportunities to collect outcomes from the medical chart as a function of visit rate to the metabolic clinic, by treatment centre and by child age. We applied a data quality framework to evaluate data based on completeness, conformance, and plausibility for four core MCAD outcomes: emergency department use, fasting time, metabolic decompensation, and death. RESULTS: The frequency of metabolic clinic visits decreased with increasing age, from a rate of 2.8 visits per child per year (95% confidence interval, 2.3-3.3) among infants 2 to 6 months, to 1.0 visit per child per year (95% confidence interval, 0.9-1.2) among those ≥ 5 years of age. Rates of emergency department visits followed anticipated trends by child age. Supplemental findings suggested that some emergency visits occur outside of the metabolic care treatment centre but are not captured. Recommended fasting times were updated relatively infrequently in patients' metabolic charts. Episodes of metabolic decompensation were identifiable but required an operational definition based on acute manifestations most commonly recorded in the metabolic chart. Deaths occurred rarely in these patients and quality of mortality data was not evaluated. CONCLUSIONS: Opportunities to record core outcomes at the metabolic clinic occur at least annually for children with MCAD deficiency. Methods to comprehensively capture emergency care received at outside institutions are needed. To reduce substantial heterogeneous recording of core outcome across treatment centres, improved documentation standards are required for recording of recommended fasting times and a consensus definition for metabolic decompensations needs to be developed and implemented.

Beyond Sterilization: A Comprehensive Review on the Safety and Efficacy of Opportunistic Salpingectomy as a Preventative Strategy for Ovarian Cancer.

Ovarian cancer (OC) is Canada's third most common gynecological cancer, with an estimated 3000 new cases and 1950 deaths projected in 2022. No effective screening has been found to identify OC, especially the most common subtype, high-grade serous carcinoma (HGSC), at an earlier, curable stage. In patients with hereditary predispositions such as BRCA mutations, the rates of HGSC are significantly elevated, leading to the use of risk-reducing salpingo-oophorectomy as the key preventative intervention. Although surgery has been shown to prevent HGSC in high-risk women, the associated premature menopause has adverse long-term sequelae and mortality due to non-cancer causes. The fact that 75% of HGSCs are sporadic means that most women diagnosed with HGSC will not have had the option to avail of either screening or prevention. Recent research suggests that the fimbrial distal fallopian tube is the most likely origin of HGSC. This has led to the development of a prevention plan for the general population: opportunistic salpingectomy, the removal of both fallopian tubes. This article aims to compile and review the studies evaluating the effect of opportunistic salpingectomy on surgical-related complications, ovarian reserve, cost, and OC incidence when performed along with hysterectomy or instead of tubal ligation in the general population.

Recommendations on screening for primary prevention of fragility fractures.

BACKGROUND: Fragility fractures are a major health concern for older adults and can result in disability, admission to hospital and long-term care, and reduced quality of life. This Canadian Task Force on Preventive Health Care (task force) guideline provides evidence-based recommendations on screening to prevent fragility fractures in community-dwelling individuals aged 40 years and older who are not currently on preventive pharmacotherapy. METHODS: We commissioned systematic reviews on benefits and harms of screening, predictive accuracy of risk assessment tools, patient acceptability and benefits of treatment. We analyzed treatment harms via a rapid overview of reviews. We further examined patient values and preferences via focus groups and engaged stakeholders at key points throughout the project. We used the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) approach to determine the certainty of evidence for each outcome and strength of recommendations, and adhered to Appraisal of Guidelines for Research and Evaluation (AGREE), Guidelines International Network and Guidance for Reporting Involvement of Patients and the Public (GRIPP-2) reporting guidance. RECOMMENDATIONS: We recommend "risk assessment-first" screening for prevention of fragility fractures in females aged 65 years and older, with initial application of the Canadian clinical Fracture Risk Assessment Tool (FRAX) without bone mineral density (BMD). The FRAX result should be used to facilitate shared decision-making about the possible benefits and harms of preventive pharmacotherapy. After this discussion, if preventive pharmacotherapy is being considered, clinicians should request BMD measurement using dual-energy x-ray absorptiometry (DXA) of the femoral neck, and re-estimate fracture risk by adding the BMD T-score into FRAX (conditional recommendation, low-certainty evidence). We recommend against screening females aged 40-64 years and males aged 40 years and older (strong recommendation, very low-certainty evidence). These recommendations apply to community-dwelling individuals who are not currently on pharmacotherapy to prevent fragility fractures. INTERPRETATION: Risk assessment-first screening for females aged 65 years and older facilitates shared decision-making and allows patients to consider preventive pharmacotherapy within their individual risk context (before BMD). Recommendations against screening males and younger females emphasize the importance of good clinical practice, where clinicians are alert to changes in health that may indicate the patient has experienced or is at higher risk of fragility fracture.

Recommandations sur le dépistage pour la prévention primaire des fractures de fragilisation.

CONTEXTE: Les fractures de fragilisation sont un important problème de santé chez les adultes âgés et peuvent entraîner des incapacités, des hospitalisations et le placement en établissement de soins de longue durée, en plus de nuire à la qualité de vie. La présente ligne directrice du Groupe d'étude canadien sur les soins de santé préventifs (le Groupe d'étude) formule des recommandations fondées sur des données probantes au sujet du dépistage pour la prévention des fractures de fragilisation chez les personnes âgées de 40 ans et plus vivant dans la collectivité qui ne sont pas sous traitement pharmacologique préventif. MÉTHODES: Nous avons commandé des revues systématiques sur les bénéfices et les préjudices du dépistage, l'exactitude prédictive des outils d'évaluation du risque, les bénéfices du traitement, ainsi que l'acceptabilité de celui-ci par les patients. Nous avons analysé les préjudices des traitements au moyen d'un examen rapide de revues systématiques. Nous avons en outre analysé les valeurs et les préférences des patients par l'entremise de groupes de discussion et auprès d'intervenants mobilisés à certains moments clés, tout au long du projet. Nous avons utilisé l'approche méthodologique GRADE (Grading of Recommendations, Assessment, Development and Evaluation) afin de déterminer la certitude des données probantes pour chacune des issues cliniques ainsi que la force des recommandations, et nous avons appliqué les lignes directrices de l'instrument AGREE (Appraisal of Guidelines for Research and Evaluation), du Guidelines International Network (GIN) et du guide de rédaction Guidance for Reporting Involvement of Patients and the Public (GRIPP 2). RECOMMANDATIONS: Nous recommandons un dépistage débutant par une estimation du risque pour la prévention des fractures de fragilisation chez les femmes de 65 ans et plus. Le dépistage se fait d'abord au moyen de l'outil canadien FRAX, qui mesure le risque de fracture, sans densité minérale osseuse (DMO). Le score FRAX devrait guider la prise de décision partagée entourant les bénéfices et les préjudices potentiels de la pharmacothérapie préventive. Après cette discussion, si une pharmacothérapie préventive est envisagée, les médecins devraient demander une mesure de la DMO par absorptiométrie à rayons X biphotonique (DEXA) du col du fémur, puis réévaluer le risque de fracture en intégrant le score T de la DMO au score FRAX (recommandation conditionnelle, données de faible certitude). Nous ne recommandons pas le dépistage chez les femmes de 40­64 ans et les hommes de 40 ans et plus (recommandation forte, données de très faible certitude). Ces recommandations s'appliquent aux personnes vivant dans la collectivité qui ne sont pas sous pharmacothérapie pour la prévention des fractures de fragilisation. INTERPRÉTATION: Le dépistage débutant par une estimation du risque chez les femmes de 65 ans et plus facilite la prise de décision partagée et permet aux patientes d'envisager la pharmacothérapie préventive en fonction de leur propre risque (avant DMO). Le fait de ne pas recommander le dépistage chez les hommes et les femmes plus jeunes rappelle l'importance des bonnes pratiques cliniques, en vertu desquelles les médecins doivent demeurer à l'affût de tout changement de l'état de santé des personnes qui pourrait indiquer qu'elles ont subi une fracture de fragilisation ou pourraient y être plus sujettes.

Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.

INTRODUCTION: Children with inherited metabolic diseases (IMDs) often have complex and intensive healthcare needs and their families face challenges in receiving high-quality, family centred health services. Improvement in care requires complex interventions involving multiple components and stakeholders, customised to specific care contexts. This study aims to comprehensively understand the healthcare experiences of children with IMDs and their families across Canada. METHODS AND ANALYSIS: A two-stage explanatory sequential mixed methods design will be used. Stage 1: quantitative data on healthcare networks and encounter experiences will be collected from 100 parent/guardians through a care map, 2 baseline questionnaires and 17 weekly diaries over 5-7 months. Care networks will be analysed using social network analysis. Relationships between demographic or clinical variables and ratings of healthcare experiences across a range of family centred care dimensions will be analysed using generalised linear regression. Other quantitative data related to family experiences and healthcare experiences will be summarised descriptively. Ongoing analysis of quantitative data and purposive, maximum variation sampling will inform sample selection for stage 2: a subset of stage 1 participants will participate in one-on-one videoconference interviews to elaborate on the quantitative data regarding care networks and healthcare experiences. Interview data will be analysed thematically. Qualitative and quantitative data will be merged during analysis to arrive at an enhanced understanding of care experiences. Quantitative and qualitative data will be combined and presented narratively using a weaving approach (jointly on a theme-by-theme basis) and visually in a side-by-side joint display. ETHICS AND DISSEMINATION: The study protocol and procedures were approved by the Children's Hospital of Eastern Ontario's Research Ethics Board, the University of Ottawa Research Ethics Board and the research ethics boards of each participating study centre. Findings will be published in peer-reviewed journals and presented at scientific conferences.

Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.

BACKGROUND AND OBJECTIVE: Children with inherited metabolic diseases often require complex and highly specialized care. Patient and family-centered care can improve health outcomes that are important to families. This study aimed to examine experiences of family caregivers (parents/guardians) of children diagnosed with inherited metabolic diseases with healthcare to inform strategies to improve those experiences. METHODS: A cross-sectional mailed survey was conducted of family caregivers recruited from an ongoing cohort study. Participants rated their healthcare experiences during their child's visits to five types of healthcare settings common for inherited metabolic diseases: the metabolic clinic, the emergency department, hospital inpatient units, the blood laboratory, and the pharmacy. Participants provided narrative descriptions of any memorable negative or positive experiences. RESULTS: There were 248 respondents (response rate 49%). Caregivers were generally very or somewhat satisfied with the care provided at each care setting. Appropriate treatment, provider knowledge, provider communication, and care coordination were deemed essential aspects of satisfaction with care by the majority of participants across many settings. Memorable negative experiences were reported by 8-22% of participants, varying by setting. Among participants who reported memorable negative experiences, contributing factors included providers' demeanor, lack of communication, lack of involvement of the family, and disregard of an emergency protocol letter provided by the family. CONCLUSIONS: While caregivers' satisfaction with care for children with inherited metabolic diseases was high, we identified gaps in family-centered care and factors contributing to negative experiences that are important to consider in the future development of strategies to improve pediatric care for inherited metabolic diseases.

Anticipating the primary care role in genomic medicine: expectations of genetics health professionals.

Our purpose was to explore genetics health professionals' (GHPs) expectations of primary care providers' (PCPs) role in genomic medicine now and in the future. Focus groups/interviews were conducted with GHPs in Ontario, Canada. Recordings were transcribed and analysed using qualitative descriptive analysis. Five focus groups (6 clinical geneticists, 24 genetic counselors, 1 nurse, 4 laboratory staff, 3 genetics program administrators) and 3 interviews (nurses) were conducted. GHPs described a key role for PCPs in genomic medicine that could be enhanced if GHPs and PCPs worked together more effectively, making better use of GHPs as a scarce specialist resource, improving PCP knowledge and awareness of genomics, and increasing GHPs' understanding of primary care practice and how to provide PCPs meaningful education and support. Health system change is needed to facilitate the GHP/PCP relationship and improve care. This might include: PCPs ordering more genetic tests independently or with GHP guidance prior to GHP consultations, genomic expertise in primary care clinics or GHPs being accessible through buddy systems or virtually through telemedicine or electronic consultation, and developing educational materials and electronic decision support for PCPs. Our findings highlight need for change in delivering genomic medicine, which requires building the relationship between GHPs and PCPs, and creating new service delivery models to meet future needs.

Fall prevention interventions for older community-dwelling adults: systematic reviews on benefits, harms, and patient values and preferences.

BACKGROUND: An estimated 20-30% of community-dwelling Canadian adults aged 65 years or older experience one or more falls each year. Fall-related injuries are a leading cause of hospitalization and can lead to functional independence. Many fall prevention interventions, often based on modifiable risk factors, have been studied. Apart from the magnitude of the benefits and harms from different interventions, the preferences of older adults for different interventions as well as the relative importance they place on the different potential outcomes may influence recommendations by guideline panels. These reviews on benefits and harms of interventions, and on patient values and preferences, will inform the Canadian Task Force on Preventive Health Care to develop recommendations on fall prevention for primary care providers. METHODS: To review the benefits and harms of fall prevention interventions, we will update a previous systematic review of randomized controlled trials with adaptations to modify the classification of interventions and narrow the scope to community-dwelling older adults and primary-care relevant interventions. Four databases (MEDLINE, Embase, Cochrane Central Register of Controlled Trials, Ageline), reference lists, trial registries, and relevant websites will be searched, using limits for randomized trials and date (2016 onwards). We will classify interventions according to the Prevention of Falls Network Europe (ProFANE) Group's taxonomy. Outcomes include fallers, falls, injurious falls, fractures, hip fractures, institutionalization, health-related quality of life, functional status, and intervention-related adverse effects. For studies not included in the previous review, screening, study selection, data extraction on outcomes, and risk of bias assessments will be independently undertaken by two reviewers with consensus used for final decisions. Where quantitative analysis is suitable, network or pairwise meta-analysis will be conducted using a frequentist approach in Stata. Assessment of the transitivity and coherence of the network meta-analyses will be undertaken. For the reviews on patient preferences and outcome valuation (relative importance of outcomes), we will perform de novo reviews with searches in three databases (MEDLINE, PsycInfo, and CINAHL) and reference lists for cross-sectional, longitudinal quantitative, or qualitative studies published from 2000. Selection, data extraction, and risk of bias assessments suitable for each study design will be performed in duplicate. The analysis will be guided by a narrative synthesis approach, which may include meta-analysis for health-state utilities. We will use the CINeMa approach to a rate the certainty of the evidence for outcomes on intervention effects analyzed using network meta-analysis and the GRADE approach for all other outcomes. DISCUSSION: We will describe the flow of literature and characteristics of all studies and present results of all analyses and summary of finding tables. We will compare our findings to others and discuss the limitations of the reviews and the available literature. SYSTEMATIC REVIEW REGISTRATION: This protocol has not been registered.

Informing Integration of Genomic Medicine Into Primary Care: An Assessment of Current Practice, Attitudes, and Desired Resources.

Introduction: Preparing primary care providers for genomic medicine (GM) first requires assessment of their educational needs in order to provide clear, purposeful direction and justify educational activities. More understanding is needed about primary care providers' perspectives on their role in newer areas of GM and what resources would be helpful in practice. Our objective was to determine family physicians' (FP) current involvement and confidence in GM, attitudes regarding its clinical value, suggestions for integration of GM into practice, and resources and education required. Methods: A self-complete anonymous questionnaire was mailed to a random sample of 2,000 FPs in Ontario, Canada in September 2012. Results: Adjusted response rate was 26% (361/1,365), mean age was 51, and 53% were male. FPs reported many aspects of traditional GM as part of current practice (eliciting family history: 93%; deciding who to refer to genetics: 94%; but few reported confidence (44%, 32% respectively). Newer areas of GM were not part of most FPs' current practice and confidence was low (pharmacogenetics: 28% part of practice, 5% confident; direct-to-consumer genetic testing: 14%/2%; whole genome sequencing: 8%/2%). Attitudes were mixed with 59% agreeing that GM would improve patient health outcomes, 41% seeing benefits to genetic testing, but only 36% agreeing it was their responsibility to incorporate GM into practice. Few could identify useful sources of genetic information (22%) or find information about genetic tests (21%). Educational resources participants anticipated would be useful included contact information for local genetics clinics (89%), summaries of genetic disorders (86%), and genetic referral (85%) and testing (86%) criteria. About 58% were interested in learning about new genetic technologies. Most (76%) wanted to learn through in-person teaching (lectures, seminars etc.), 66% wanted contact with a local genetic counselor to answer questions, and 59% were interested in a genetics education website. Conclusion: FPs lack confidence in GM skills needed for practice, particularly in emerging areas of GM. They see their role as making appropriate referrals, are somewhat optimistic about the contribution GM may make to patient care, but express caution about its current clinical benefits. There is a need for evidence-based educational resources integrated into primary care and improved communication with genetic specialists.

Family History Taking in Pediatric Practice: A Qualitative Interview Study.

BACKGROUND: Family history (FH) is a risk factor for many conditions in pediatric practice. There is no standard of care regarding FH taking, and only a few published studies about current practice. OBJECTIVES: To explore in depth pediatricians' perceptions, attitudes, beliefs, and practices regarding FH taking. METHODS: The Theoretical Domains Framework (TDF) was used to develop a comprehensive interview scheme. Semi-structured interviews were conducted with community pediatricians. Interviews were audio-recorded, transcribed, and analyzed using a thematic approach and the constant comparison method. RESULTS: Eleven pediatricians were interviewed. FH was found to be a firmly embedded, complex, and important aspect of pediatric practice. Participants described FH as part of regular holistic care. FH and social history were linked and often appeared to be part of the same concept to participants. FH was used for a range of purposes. In addition to risk assessment, FH information helped clarify diagnosis and select medication, tailor overall patient management based on family circumstance, and provide psychosocial support for parents. Participants expressed confidence in their FH skills and reported tailoring their approach with experience. Most were not concerned about formal evidence for FH and would not change their practice except for "good reason." CONCLUSIONS: The use of the TDF helped ensure a comprehensive approach to FH taking in pediatric practice. The findings suggest that FH taking in this setting is a complex activity, embedded in routine care. Efforts to make FH taking more systematic may founder if they fail to take into account pediatricians' attitudes, perspectives, and practices.

What is in a Name? Parent, Professional and Policy-Maker Conceptions of Consent-Related Language in the Context of Newborn Screening.

Newborn bloodspot screening programs are some of the longest running population screening programs internationally. Debate continues regarding the need for parents to give consent to having their child screened. Little attention has been paid to how meanings of consent-related terminology vary among stakeholders and the implications of this for practice. We undertook semi-structured interviews with parents (n = 32), healthcare professionals (n = 19) and policy decision makers (n = 17) in two Canadian provinces. Conceptions of consent-related terms revolved around seven factors within two broad domains, decision-making and information attainment. Decision-making comprised: parent decision authority; voluntariness; parent engagement with decision-making; and the process of enacting choice. Information ascertainment comprised: professional responsibilities (including disclosure of information and time to review); parent responsibilities; and the need for discussion and understanding prior to a decision. Our findings indicate that consent-related terms are variously understood, with substantive implications for practice. We suggest that consent procedures should be explained descriptively, regardless of approach, so there are clear indications of what is expected of parents and healthcare professionals. Support systems are required both to meet the educational needs of parents and families and to support healthcare professionals in delivering information in a manner in keeping with parent needs.

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada.

BACKGROUND: We describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency through newborn screening in Ontario, Canada, relative to a screen negative comparison cohort. METHODS: Eligible children were identified via newborn screening between April 1, 2006 and March 31, 2010. Age-stratified rates of physician encounters, emergency department (ED) visits and inpatient hospitalizations to March 31, 2012 were compared using incidence rate ratios (IRR) and incidence rate differences (IRD). We used negative binomial regression to adjust IRRs for sex, gestational age, birth weight, socioeconomic status and rural/urban residence. RESULTS: Throughout the first few years of life, children with MCAD deficiency (n = 40) experienced statistically significantly higher rates of physician encounters, ED visits, and hospital stays compared with the screen negative cohort. The highest rates of ED visits and hospitalizations in the MCAD deficiency cohort occurred from 6 months to 2 years of age (ED use: 2.1-2.5 visits per child per year; hospitalization: 0.5-0.6 visits per child per year), after which rates gradually declined. CONCLUSIONS: This study confirms that young children with MCAD deficiency use health services more frequently than the general population throughout the first few years of life. Rates of service use in this population gradually diminish after 24 months of age.