Genetics in health care: an overview of current and emerging models.

BACKGROUND: With advances in genetic and genomic medicine, the optimal integration of genetic services into the health care system remains of major concern in many countries. OBJECTIVES: To review the current organisation of genetic services, mostly in Europe, North America and Australia, explore emerging service delivery models, and probe challenges inherent in the transition process. METHODS: We conducted a literature review of genetics in clinical practice: testing, diagnosis, counselling, and treatment. We examined the basic structures of genetic services, examples of integrated networks, and existing professional resources. We investigated services belonging traditionally in medical genetics as well as those developed for more common diseases. RESULTS: Multidisciplinary specialist clinics and coordinated services appeared to be key to delivering proper care in rare genetic disorders. For oncogenetics, neurogenetics and cardiogenetics, interprofessional collaboration between geneticists and other specialists seemed to be favoured. On the other hand, there was also a tendency toward the integration of genetic services directly into primary care. Among the most pressing challenges was the morphing of paediatric care into adult care. CONCLUSION: The coordination of activities between professionals in first-, second-, and third-line medical care is a primary objective calling for the reconfiguration of professional roles and responsibilities. This entails the forging of new relationships as well as an enhanced sharing of expertise and genetic information, including information regarding services. Barriers to overcome include the redistribution of roles, sharing of data and databases, and the lack of preparedness of non-genetics professionals and of the health care system in general.

Physicians' attitudes to the pharmacological treatment of patients with stable angina pectoris.

BACKGROUND: Little is known about how physicians' knowledge of and attitudes to practice guidelines for stable angina may influence their implementation. AIM: To explore the association between physicians' demographics, their knowledge, and opinions about stable angina and their self-reported adherence to guideline recommendations. DESIGN: Questionnaire-based survey. METHODS: We surveyed 1228 Quebec physicians using a questionnaire based on the 'awareness-to-adherence' conceptual framework to measure their adherence with recommendations for the pharmacological treatment of stable angina. Independent predictors of adherence with the targeted recommendations were determined by stepwise linear regression analysis. RESULTS: We received 877 (71.4%) responses from the 1228 eligible physicians. More than 90% of respondents were aware of and agreed with the targeted recommendations. However, the adoption rate varied, even among physicians who generally agreed with the guidelines. Factor analysis indicated that most physicians agreed with recommendations concerning ASA. More negative attitudes were expressed toward beta-blockers and hypolipaemic drugs. Respondents trusted the recommendations of a variety of scientific and professional organizations. Awareness, agreement, and adoption were the strongest predictors of adherence for the three recommendations. Physician demographics and practice characteristics did not predict adherence. DISCUSSION: Physicians were aware of and agreed with the recommendations, so additional large-scale dissemination of the guidelines would be unlikely to improve prescription patterns. However, negative attitudes about beta-blockers and hypolipaemic therapy affected adherence to recommendations for these drugs. Continuing medical education interventions involving local opinion leaders might address some of the obstacles identified.

Are patients suffering from stable angina receiving optimal medical treatment?

There is good evidence for the use of antiplatelet, beta-blocker and lipid-lowering drugs in the treatment of ischaemic heart disease, but few data on how these medications are used in treating stable angina pectoris. We examined prescription profiles for a sample of patients aged > or =65 years with stable angina, to compare the profiles to local guidelines and to explore the determinants of these profiles, in a cross-sectional study. We identified 11 141 individuals from the Quebec provincial out-patient pharmaceutical database for the period 1 June 1996 to 31 May 1997, and examined the percentage of these patients with and without associated co-morbidities receiving antiplatelet, beta-blocker and lipid-lowering medications. We used hierarchical modelling to examine the role of patient and physician characteristics in explaining the variation in the use of these medications. Calcium-channel blockers were the class of anti-ischaemic drugs most prescribed (63%). Beta-blockers were prescribed in 52.1% of patients. Antiplatelet and lipid-lowering drugs were prescribed to 56.8% and 32.6%, respectively. Increasing age and female gender made patients less likely to be prescribed these treatments. General practitioners were less likely than cardiologists to prescribe beta-blockers and lipid-lowering drugs (OR 0.79, CI 95% 0.68-0.91 and OR 0.77, CI 95% 0.66-0.91, respectively). There is a general under-use of antiplatelet, beta-blocker and lipid-lowering medications in the treatment of stable angina pectoris patients, possibly leading to adverse patient outcomes.

Telehealth: passing fad or lasting benefits?

Advocates of telehealth argue that the delivery of health services by means of communications technologies is both feasible and desirable. Nevertheless, the benefits of telehealth, due to the variety of its applications and their uneven development, are not self-evident. The goal of this paper is to reflect on the processes by which telehealth applications do or do not contribute to the delivery of health services. We propose a framework structuring a preliminary analysis of the match between needs and the possibilities offered by telehealth. Four mechanisms of expected benefits are discussed: 1) decreasing patient transfers; 2) decreasing trips by providers and patients; 3) meeting the needs of underserved populations; and 4) building providers' and patients' knowledge and reducing rural isolation. We conclude by stressing that the participation of providers is crucial, both in the research on telehealth and in the steering of its evolution.

Comparing participants and nonparticipants in a smoking cessation trial: selection factors associated with general practitioner recruitment activity.

We studied the relationship between smokers' sociodemographic characteristics, their smoking habit, health status, and the probability of their having been approached for recruitment in the smoking cessation trial performed in Turin, Italy, with the aim of gathering information on the role of selection criteria adopted by general practitioners (GPs) in offering anti-smoking counseling. The 965 smokers who were offered participation in the trial were matched to a sample of eligible smokers (n = 277), selected from the rosters of the 42 GPs collaborating in the trial, who had not been invited to participate. The probability of being offered enrollment, estimated through a multiple conditional logistic regression model, assuming the GP as the matching variable, was significantly increased for intermediate (10-19 cigarettes per day: odds ratio [OR] = 4.13; 95% confidence interval [CI]: 2.63-6.47) and heavy (20 cigarettes per day or more: OR = 10.12; 95% CI: 6.51-15.75) smokers, for smokers diagnosed with chronic cardiovascular (OR = 2.06; 95% CI: 1.19-3.58), or respiratory (OR = 2.50; 95% CI: 1.40-4.48) diseases, and for smokers mentioning an intermediate number (2-4) of past quit attempts (OR = 3.70; 95% CI: 2.18-6.28). General Practitioners focused their recruitment activity on higer-risk smokers or smokers who had tried to quit, to offer more clues for intervention. Assessing the potential public health benefit of preventive interventions requires a more systematic evaluation of the generalizability of the reported findings.

Health technology assessment and the regulation of medical devices and procedures in Quebec. Synergy, collusion, or collision?

In this paper, we discuss the complex relationship between health technology assessment (HTA) and the regulation of medical devices and procedures. The relationship is first examined through a conceptual framework describing the itinerary from research to three levels of policy making: micro (standards of medical practice), meso (institutional rules), and macro (health policies). Four reports from the Quebec Health Technology Assessment Council (CETS) are used to illustrate how HTA activities can influence the regulatory mechanisms operating at each decision-making level. We then discuss the skillful balancing act required from HTA agencies to constantly negotiate the right distance from the regulatory process at which to operate. We propose that HTA agencies should not be incorporated into any regulatory, auditing, or monitoring process. Finally, the relationship between health technology assessment and health care reform is discussed. It is suggested that HTA activities will contribute most during the data-driven preparation and consolidation phases of a reform process. The fast pace of events and the political turmoil characteristic of the implementation phase provide a less receptive environment for HTA contributions.

Predictors of smoking cessation following physicians' counseling.

BACKGROUND: The purpose of this study was, to identify predictors of quitting following general practitioners' (GP) anti-smoking counseling. METHODS: We studied determinants (characterized following the Precede framework) of successful quitting (1 year sustained abstinence, biochemically confirmed at 6- and 12-month follow-up) among 861 smokers randomized to the intervention groups based on repeated counseling (RC), RC + spirometric testing, and RC + nicotine gum, in a smoking cessation trial carried out in Turin, Italy. RESULTS: GPs' intervention worked best for male (OR = 2.30; 95% CI, 1.13-4.52) and married (OR = 3.63; 95% CI, 1.37-9.59) smokers, for smokers who had maintained abstinence for at least 1 month in the past (OR = 6.78; 95% CI, 1.56-29.52) or at their first quit attempt (OR = 10.91; 95% CI, 2.37-50.13), and for those who spontaneously reduced their coffee consumption (OR = 3.30; 95% CI, 1.59-6.82); heavy smokers (> = 20 cig/day OR = 0.48; 95% CI, 0.24-0.93) and those living with other smokers (> = 1 smokers in the household: OR = 0.44; 95% CI, 0.22-0.90) were less likely to give up. Previous antismoking advice by the GP represented a strong barrier to success for healthy smokers (OR = 0.19; 95% CI, 0.07-0.52), but not for those reporting symptoms of shortness of breath (OR = 0.63; 95% CI, 0.39-9.20). There were no interactions between predictors and treatment conditions. CONCLUSIONS: Assessment of factors influencing quitting would allow GPs to tailor their message to address existing barriers and to help patients utilize their resources for change.

Determining appropriateness of coronary thrombolysis in the emergency department.

STUDY OBJECTIVE: To estimate the appropriateness of decision-making by emergency physicians regarding coronary thrombolysis. METHODS: We conducted a retrospective chart review of patients admitted over a period of 13 months from a tertiary care center emergency department with a diagnosis of an acute ischemic coronary syndrome. Both thrombolysed and nonthrombolysed patients were eligible for inclusion. The decisions of emergency physicians to use or not use thrombolytics were compared with standard Canadian guidelines, based on the blinded assessments of two reviewers. Appropriateness was estimated with the use of adjusted kappa statistics, and a hierarchical statistical model was developed to estimate the distribution of appropriate decision-making rates for individual emergency physicians. RESULTS: The overall adjusted kappa for appropriateness was .85 (95% confidence interval [CI], .76 to .94). The appropriateness rate for thrombolysed patients was 80.6% (95% CI, 62.5 to 92.5), and for nonthrombolysed patients it was 97.2% (95% CI, 91.9 to 99.4). The distribution of individual emergency physician appropriateness rates had an estimated mean of 91.3% and a 95% CI of 81.3% to 97.7%. Complication rates were not significantly different from previously published rates. CONCLUSION: This study demonstrates excellent agreement between emergency physicians' decisions regarding thrombolysis and standard Canadian guidelines, based on an adjusted kappa statistic. The distribution of individual emergency physician appropriateness rates and the appropriateness rate for nonthrombolysed patients are estimated for the first time.

The research-policy continuum. Comparing allo- and xenotransplantation.

Where are we on the continuum leading from research to policy decisions in allo- and xenotransplantation? In the case of allotransplantation all the activities needed in achieving an effective research policy transfer are ongoing. Research is vibrant and several technology assessment reports have been produced and translated into decisions at the policy, institutional, and practice levels, and quality monitoring activities are an integral part of transplant programs. The field of xenotransplantation is young and so the major emphasis in xenotransplantation will remain knowledge production for the coming years. Exploring the intricacies of the physiology of xenotransplantation, the associated risks of infection, and the complexity of the immunological response will remain research priorities. The social and ethical debate, necessary to the formulation of sound health policy, will intensify and be focused on whether to allow human experimentation and under what conditions.

Use of physician services among family caregivers of elderly persons with dementia.

It is well known that there is an excess of physical and psychological health problems among family caregivers of elderly persons with Alzheimer's disease and other dementias. The objective of this study was to determine whether the higher level of morbidity translates into a higher level of medical care utilization. Data from a previously completed longitudinal study of caregivers for elderly persons with dementia were merged with data on physician visits obtained from the computerized records of the Quebec Health Insurance Board. Utilization of physician care (adjusted for age, sex, number of chronic diseases, and depression) was no higher for family caregivers of elderly patients with Alzheimer's disease and other dementias than for comparable family members of older persons without dementia. The annual cost of physician care was almost identical among caregivers and noncaregivers. However, the pattern of utilization for the two groups was somewhat different: there was a significantly higher frequency of physician utilization among caregivers for services billed by psychiatrists and internal medicine specialists. In multivariate analysis, physician utilization was significantly associated with having more than one chronic condition and with increased age. Future studies should focus on determining whether caregivers neglect their own health care needs as a result of the exigencies of the caregiving role.

Predictive power of duplex ultrasonography in asymptomatic carotid disease.

BACKGROUND: Duplex ultrasonography is considered a valid measure of stenosis of the carotid arteries, but the prognostic value of repeated ultrasonographic examinations is unknown. OBJECTIVE: To determine the ability of serial ultrasonographic measurements to predict cerebrovascular events in patients with asymptomatic carotid disease. DESIGN: Secondary analysis of data from a natural history study of asymptomatic carotid disease. PATIENTS: Asymptomatic patients with cervical bruits. MEASUREMENTS: Duplex ultrasonography of the carotid arteries was done at study enrollment and biannually thereafter. Multivariable Cox proportional hazards models with fixed and time-dependent covariates were used for analysis. RESULTS: 61 transient ischemic attacks (TIAs) and 38 strokes occurred in 715 participants over a mean follow-up period of 3.2 years; 4 strokes were disabling, and no deaths from stroke occurred. Sixty percent of strokes occurred in persons who did not have severe stenosis. One fifth of participants had stenosis progression. Baseline carotid stenosis was a significant predictor of the outcome "TIA or stroke" (relative risk, 1.5 [95% CI, 1.2 to 1.7]) and retained its predictive ability for more than 3 years. Progression of stenosis to 80% or more significantly increased the risk for cerebrovascular events and death. The sensitivity and positive predictive value of progression as an independent predictor of TIA or stroke were low. CONCLUSION: Severe carotid stenosis is associated with a higher risk for cerebrovascular events, but the power of repeated ultrasonography to predict ischemic events is limited by low incidence rates and low rates of progression. The evidence does not support the routine use of serial ultrasonography to determine the risk for stroke in unselected patients with asymptomatic carotid disease.

Quality of life research and health technology assessment--a time for synergy.

Measuring quality of life and assessing technologies are both increasingly prominent in health care systems. This growth has accompanied growing concern over aging populations and health care expenditure growth. Nevertheless, there appears to be unrealized potential for synergy between quality of life research and technology assessment. In this paper, we consider the roles and challenges facing quality of life research in three domains: research-particularly clinical trials of therapeutics; clinical situations and policy-making. We then examine the potential for synergy in these domains and conclude that expanding collaboration will strengthen both fields and intensify their impact in research, clinical practice and policy-making.

Lack of effect of aspirin in asymptomatic patients with carotid bruits and substantial carotid narrowing. The Asymptomatic Cervical Bruit Study Group.

OBJECTIVE: To determine the effectiveness of aspirin in preventing ischemic events in patients with asymptomatic carotid stenosis. DESIGN: Double-blind, placebo-controlled trial. SETTING: University-affiliated hospitals. PATIENTS: 372 neurologically asymptomatic patients with carotid stenosis of 50% or more in at least one artery as determined by luminal diameter reduction on duplex ultrasonography. INTERVENTION: Patients were randomly assigned to receive either enteric coated aspirin, 325 mg/d, or identically appearing placebo. Duration of therapy was 2.0 years for the aspirin recipients and 1.9 years for the placebo recipients. OUTCOME MEASURES: Patients were scheduled for a clinical examination every 6 months for assessment of the occurrence of any clinical event in the composite end point, which consisted of transient ischemic attack, stroke, myocardial infarction, unstable angina, or death. RESULTS: At baseline, the 188 patients receiving aspirin and the 184 patients receiving placebo had similar demographic, ultrasonographic, and laboratory characteristics. The median duration of follow-up was 2.3 years. The annual rate of all ischemic events and death from any cause was 12.3% for the placebo group and 11.0% for the aspirin group (P = 0.61). The Cox proportional hazards analysis yielded an adjusted hazard ratio (aspirin-placebo) of 0.99 (95% CI, 0.67 to 1.46; P = 0.95). The annual rates for vascular events only were 11% for the placebo group and 10.7% for the aspirin group (P = 0.99). The multivariate analysis yielded a hazard ratio of 1.08 (CI, 0.72 to 1.62; P = 0.71). CONCLUSION: Aspirin did not have a significant long-term protective effect in asymptomatic patients with high-grade (> or = 50%) carotid stenosis.

Setting priorities and selecting topics for clinical practice guidelines.

Setting priorities and selecting topics are important steps in guidelines development, but they have received relatively little attention to date. Responses from a survey of guidelines stakeholders in Canada suggest that the health burden of a clinical condition on the population is an important factor in priority setting. Economic considerations, cast as either costs of treatment to the health care system or the economic burden of illness to society, are given varying importance by different stakeholder groups. Drawing on the literature and the survey results, the authors propose a framework for priority setting. Important issues requiring consideration include the role of public and community participation, the need for and appropriate emphasis on quantitative data regarding current practice and its variation, and mechanisms to link guidelines to health-policy development and management of the health care system.

Report on activities and attitudes of organizations active in the clinical practice guidelines field.

The organizing committee of a workshop on clinical practice guidelines (CPGs) surveyed invited organizations on their attitudes and activities related to five topics to be covered during the workshop sessions: organizational roles, priority setting, guidelines implementation, guidelines evaluation and development of a network of those active in the CPG field. Organizational roles: The national specialty societies were felt to have the largest role to play; the smallest roles were assigned to consumers, who were seen to have a role mainly in priority setting, and to industry and government, both of which were seen to have primarily a funding role. Many barriers to collaboration were identified, the solutions to all of which appeared to be better communication, establishment of common principles and clear role definitions. Priority setting: There was considerable agreement on the criteria that should be used to set priorities for CPG activities: the burden of disease on population health, the state of scientific knowledge, the cost of treatment and the economic burden of disease on society were seen as important factors, whereas the costs of guidelines development and practitioner interest in guidelines development were seen as less important. Organizations were unable to give much information on how they set priorities. Guidelines implementation: Most of the organizations surveyed did not actively try to ensure the implementation of guidelines, although a considerable minority devoted resources to implementation. The 38% of organizations that implemented guidelines actively listed a wide variety of activities, including training, use of local opinion leaders, information technology, local consensus processes and counter detailing. Guidelines evaluation: Formal evaluation of guidelines was undertaken by fewer than 13% of the responding organizations. All the evaluations incorporated assessments before and after guideline implementation, and some used primary patient data. Barriers to evaluation included lack of money, time, data or expertise. CPG Network: Most of the respondents felt that all organizations and individuals interested or involved in guidelines should form the membership of the network. The three most important functions of such a network were deemed to be (a) to facilitate collaboration among those involved in the CPG process, (b) to maintain an information centre on CPGs and (c) to provide expertise to the CPG process. It was felt that the network should have some formal structure and communicate through e-mail and print media.

Medicine, practice and guidelines: the uneasy juncture of science and art.

While physicians are often portrayed as scientists, the defining character of medical practice is its being both science and art. Indeed, despite drawing on the ever-expanding knowledge base and range of therapies, medical practice remains fundamentally an interpersonal experience, drawing on the dynamic and rich interaction between practitioner and patient. With the goal of situating clinical practice guidelines in a broader context, we briefly explore models of medicine and the nature of clinical practice. The implications of these for guideline development and implementation are then examined as we present guidelines as an opportunity for enhancing medical practice and increasing both patient and practitioner satisfaction.

Evaluation of the Canadian Coordinating Office for Health Technology Assessment.

The Canadian Coordinating Office for Health Technology Assessment (CCOHTA) was recently evaluated. We summarize the evaluation process, report, and 17 recommendations for enhancing CCOHTA's effectiveness. This paper may be useful for evaluators of agencies for technology assessment.