Systematic Population Screening Research Articles

Outcome of a nationwide screening programme in young individuals

Abstract Funding Acknowledgements Type of funding sources: Other. Main funding source(s): Cardiac Risk in the Young. Background Sudden cardiac death (SCD) seemingly affects young, healthy individuals and is therefore recognised as an important public health concern for athletes and non-athletes. However, systematic population screening is not recommended in the United Kingdom (UK). Concerns include the low reported incidence of SCD in young individuals, the efficacy of the electrocardiogram (ECG) and the lack of robust evidence on cardiac screening. We sought to determine the diagnostic yield of a nationwide cardiac screening programme in young individuals. Importantly, we sought to report on the frequency of false-negative screen-test results, which is underrecognized in the literature, and the incidence of sudden cardiac arrest (SCA) and SCD amongst individuals who underwent screening. Methods From 2007 through 2018, 104,369 consecutive individuals, aged 14 to 35 years, underwent voluntary cardiac screening (62% were male, 91% were non-athletes). Initial evaluation consisted of a health questionnaire (HQ), ECG, and clinical consultation. Selective on-site echocardiography was available at the discretion of the consulting physician. Clinical outcomes were sourced from the Office for National Statistics-Hospital-Episode-Statistics database and an online HQ. Results During screening 280 (0.27%) individuals were found to have a cardiac condition associated with SCA/SCD and 115 received potentially life-saving treatments. A further 166 (0.16%) with congenital or valvular abnormalities were identified. During a mean follow-up of 6.2 ± 2.5 years, an additional 86 individuals, considered to have normal screening, were found to have a cardiac condition associated with SCA/SCD.After screening there were 86 deaths. Cardiac disorders accounted for 20 deaths (23%), all of which were sudden. In addition, 15 individuals survived a SCA. Primary electrical disorders accounted for 21 (60%) of the 35 cases of SCA/SCD, followed by cardiomyopathies (n=6), and congenital or acquired coronary artery disease (n=5). On the basis of a total of 626,550 person-years (PY), the combined incidence of SCA/SCD was 1:17,901 PY (5.6 per 100,000 PY). Males were at 3.5-fold higher risk than females (1:12,488 PY vs 1:44,067 PY, p < 0.01). For prevention of SCA/SCD the programme’s sensitivity was 19.4% with a specificity of 97.5%. For identifying conditions associated with SCD, the programme’s sensitivity was 76.5% with a specificity was 97.8%. Conclusion Diseases that are associated with SCD were identified in 0.27% of young individuals who underwent cardiac screening. A further 86 (0.08%) conditions were identified after screening. The incidence of SCA and SCD was 5.6 per 100,000 person-years, which is considerable higher than previous estimates in the general population. Most of these events were due to confirmed or presumed primary electrical disorders that had not been detected on screening.

Ageing and dementia: age-period-cohort effects of policy intervention in England, 2006\u20132016

BackgroundDementia is one of the most critical challenges of our time. According to the Dementia Statistics Hub, only about 66 % of all UK residents with dementia were diagnosed in 2017–2018. Yet, there are reservations about the early diagnosis of dementia-related diseases. As a result, the UK National Screening Committee does not recommend systematic population screening of dementia, although case-finding strategies are still applied for high-risk groups.MethodsThis study added additional evidence of the effectiveness of the National Dementia Strategy and increased numbers of diagnosis of dementia on the younger cohorts of the older people, using the intrinsic estimator age-period-cohort (APC) models and the English Longitudinal Study of Ageing data.ResultsAge effects show that diagnosis increases in volume only among those aged 75 and above, suggesting that many of those aged below 75 might not be diagnosed in time. Period effects show that although there was an initial increase due to the new policy implementation, the trend stalled in later years, indicating that the increase might not have been even across the period when controlled for age and cohort. The study also shows that cohort effects indicate lower prevalence in younger cohorts controlled for age and period effects.ConclusionsAlthough more research in diverse contexts is warranted, this study cautions against the abandonment of timely diagnosis, increased screening and case-finding, and shows some effectiveness of prevention strategies on the national level.

A model to predict unstable carotid plaques in population with high risk of stroke

BackgroundSeveral models have been developed to predict asymptomatic carotid stenosis (ACS), however these models did not pay much attention to people with lower level of stenosis (<50% or carotid plaques, especially instable carotid plaques) who might benefit from early interventions. Here, we developed a new model to predict unstable carotid plaques through systematic screening in population with high risk of stroke.MethodsCommunity residents who participated the China National Stroke Screening and Prevention Project (CNSSPP) were screened for their stroke risks. A total of 2841 individuals with high risk of stroke were enrolled in this study, 266 (9.4%) of them were found unstable carotid plaques. A total of 19 risk factors were included in this study. Subjects were randomly distributed into Derivation Set group or Validation Set group. According to their carotid ultrasonography records, subjects in derivation set group were further categorized into unstable plaque group or stable plaque group.Results174 cases and 1720 cases from Derivation Set group were categorized into unstable plaque group and stable plaque group respectively. The independent risk factors for carotid unstable plaque were: male (OR 1.966, 95%CI 1.406–2.749), older age (50–59, OR 6.012, 95%CI 1.410–25.629; 60–69, OR 13.915, 95%CI 3.381–57.267;≥70, OR 31.267, 95%CI 7.472–130.83), married(OR 1.780, 95%CI 1.186–2.672), LDL-C(OR 2.015, 95%CI 1.443–2.814), and HDL-C(OR 2.130, 95%CI 1.360–3.338). A predictive scoring system was generated, ranging from 0 to 10. The cut-off value of this predictive scoring system is 6.5. The AUC value for derivation and validation set group were 0.738 and 0.737 respectively.ConclusionsFor those individuals with high risk of stroke, we developed a new model which could identify those who have a higher chance to have unstable carotid plaques. When an individual’s predictive model score exceeds 6.5, the probability of having carotid unstable plaques is high, and carotid ultrasonography should be conducted accordingly. This model could be helpful in the primary prevention of stroke.

Epidemiology and Diagnostics of Prostate Cancer During COVID-19 Pandemic

Background: Prostate cancer (PCa) is the second most common cancerin the male population and represents a major health problem, especially in developed countries, where older men are more prevalent in the general population. Analyzing recent data for European countries, the incidence is highest in Northern and Western Europe (>200 per 100,000), while the rate is lower in Eastern and Southern Europe, but shows a continuous increase. Globally, about 450,000 Europeans are diagnosed with prostate cancer each year, and prostate cancer was the second most common cause of cancer-related deaths in 2018, when it was the cause of death for 107,000 men in Europe. Global data for BiH indicate that PCa is the second most common cancer in the male population, or the third leading cause of death in men due to cancer. Objective: The aim of this study was to analyze (PCa) how PCa screening is the most controversial topic regarding statements described in the urological literature searching most important biomedical on-line databases. Methods: Authors used descriptive method for this systematic study based on the published literature, summarized through meta-analysis, to show that screening was associated with an increase in PCa diagnosis. Results and Discussion: Most of autghors written about this topic and concluded that the greater detection of localized and less advanced PCa disease, but without benefits in the field of PCa “specific survival” and “overall survival”, “overdiagnosis” and “overtreatment”, leading to recommendations against systematic population screening in all countries, including Europe. The main diagnostic tools for diagnosing PCa are digitorectal examination (DRE), serum specific antigen concentration (PSA), transrectal ultrasonography (TRUS) and mp MRI, and the definitive diagnosis is based on pathohistological verification of cancer in prostate biopsy specimens or operative specimen. The indication for biopsy should be determined based on PSA levels and/or suspected DRE, depending on age, potential comorbidities and therapeutic consequences, and the indication for repeated biopsy is an increase or persistently elevated PSA, suspected DRE, “atypical small acinar proliferation” (ASAP), extensive high grade “prostatic intraepithelial neoplasia” (PIN) and positive multiparametric MRI of the prostate (PI-RADS ≥3). Conclusion: PCa volume assessment is based on DRE and PSA with the addition of multiparametric MRI, bone scan and CT, although there are new imaging modalities, such as PET/CT scan and Diffusion-weighted whole-body MRI. However, the cost-effectiveness” of these new approaches needs to be further assessed. Given that COVID-19 has imposed other priorities on all health systems, we hope that the diagnosis of clinically significant prostate cancer and adequate treatment is not questionable at this time.

PO 8441 EXPERIMENTAL COMPARISON OF SENSITIVITY OF LAMP AND REAL-TIME PCR

BackgroundHuman African trypanosomiasis, or sleeping sickness, remains a serious problem in tropical Africa. Timely diagnosis of this disease requires systematic population screening, particularly for Trypanosoma brucei gambiense, which has a long asymptomatic period.The lack of sensitivity and specificity of conventional diagnostic tests has led in recent years to the use of molecular tools. Amplification of parasite-specific DNA sequences significantly improved diagnosis of infection. However, these molecular tools still have some limitations especially in the case of low parasitaemia. Furthermore, research is still needed to make molecular detection a real control tool for the fight against sleeping sickness. The purpose of this study is to determine the threshold of sensitivity of real-time PCR using the 18S and TgsGp primers and of the LAMP technique, applied in the DiTECT-HAT project as molecular reference tests.MethodsWe used serial dilutions containing 0, 1, 10, 100, 103, 104, 105, 106 parasites per ml of blood. Samples were extracted, and DNA was amplified.ResultsThe analytical sensitivity of the 18S real-time PCR with the Taqman probe of the filter paper samples is 100 parasites/ml and that of the TgsGp real-time PCR with the Taqman probe of filter paper samples is 104 parasites/ml. For Lamp technique, the analytical sensitivity is 103 parasites/ml.ConclusionThis study shows that a ‘negative PCR’ would not mean ‘no parasite’. It suggests that DNA detection techniques should still be improved.

Management and outcome of gastric carcinoma in a tertiary health care centre

Background: Cancer is a biggest burden of modern society. Gastric cancer is the second leading cause of cancer death in the world. The objective of study was to study the clinico pathological features and management and outcome of gastric cancer patients admitted to hospital.Methodology: A prospective descriptive study was conducted in 50 diagnosed patients of gastric adenocarcinoma using pre-designed questionnaire collecting information on demographics, stage and site of tumor, clinical history, duration of stay etc.Results: There were 50 patients with male to female ratio 2.5: 1 with mean age of 62+/- 7.89 SD. 88% patients had tumor at antrum region. 25 (50%) and 28 (56%) patients gave h/o smoking and alcohol consumption respectively with 23 (46%) had biopsy positive for H. pylori. Of the gastrectomies, 41 (82%) study subjects were managed by curative surgeries. The overall hospital stay in stage II gastric adenocarcinoma was 6-8 days and 7-8 days in stage III (p=0.16).Conclusion: systematic population screening program of upper gastrointestinal endoscopy should be established to detect early cases of gastric cancer show that treatment may be initiated early which has impact on survival for this dreaded diseases.

Screening strategies for atrial fibrillation: a systematic review and cost-effectiveness analysis.

Atrial fibrillation (AF) is a common cardiac arrhythmia that increases the risk of thromboembolic events. Anticoagulation therapy to prevent AF-related stroke has been shown to be cost-effective. A national screening programme for AF may prevent AF-related events, but would involve a substantial investment of NHS resources. To conduct a systematic review of the diagnostic test accuracy (DTA) of screening tests for AF, update a systematic review of comparative studies evaluating screening strategies for AF, develop an economic model to compare the cost-effectiveness of different screening strategies and review observational studies of AF screening to provide inputs to the model. Systematic review, meta-analysis and cost-effectiveness analysis. Primary care. Adults. Screening strategies, defined by screening test, age at initial and final screens, screening interval and format of screening {systematic opportunistic screening [individuals offered screening if they consult with their general practitioner (GP)] or systematic population screening (when all eligible individuals are invited to screening)}. Sensitivity, specificity and diagnostic odds ratios; the odds ratio of detecting new AF cases compared with no screening; and the mean incremental net benefit compared with no screening. Two reviewers screened the search results, extracted data and assessed the risk of bias. A DTA meta-analysis was perfomed, and a decision tree and Markov model was used to evaluate the cost-effectiveness of the screening strategies. Diagnostic test accuracy depended on the screening test and how it was interpreted. In general, the screening tests identified in our review had high sensitivity (> 0.9). Systematic population and systematic opportunistic screening strategies were found to be similarly effective, with an estimated 170 individuals needed to be screened to detect one additional AF case compared with no screening. Systematic opportunistic screening was more likely to be cost-effective than systematic population screening, as long as the uptake of opportunistic screening observed in randomised controlled trials translates to practice. Modified blood pressure monitors, photoplethysmography or nurse pulse palpation were more likely to be cost-effective than other screening tests. A screening strategy with an initial screening age of 65 years and repeated screens every 5 years until age 80 years was likely to be cost-effective, provided that compliance with treatment does not decline with increasing age. A national screening programme for AF is likely to represent a cost-effective use of resources. Systematic opportunistic screening is more likely to be cost-effective than systematic population screening. Nurse pulse palpation or modified blood pressure monitors would be appropriate screening tests, with confirmation by diagnostic 12-lead electrocardiography interpreted by a trained GP, with referral to a specialist in the case of an unclear diagnosis. Implementation strategies to operationalise uptake of systematic opportunistic screening in primary care should accompany any screening recommendations. Many inputs for the economic model relied on a single trial [the Screening for Atrial Fibrillation in the Elderly (SAFE) study] and DTA results were based on a few studies at high risk of bias/of low applicability. Comparative studies measuring long-term outcomes of screening strategies and DTA studies for new, emerging technologies and to replicate the results for photoplethysmography and GP interpretation of 12-lead electrocardiography in a screening population. This study is registered as PROSPERO CRD42014013739. The National Institute for Health Research Health Technology Assessment programme.

Rastreio populacional de aneurisma da aorta abdominal em Portugal – o imperativo da sua realização

In Portugal, the number of abdominal aortic aneurisms (AAA) treated in relation with its population is among the lowest in the literature. This phenomenon can be explained by a low diagnostic rate or a reduced prevalence of AAA in our population. To date, no systematic population screening was conducted in Portugal. The opportunistic screening “A aorta não avisa” described a prevalence of 2.4% in our population. Several studies have shown the benefit of population screening for AAA, by describing a significant decrease in specific and all‐cause mortality. In that way, the screening is already recommended in men over 65 years by the leading international Vascular Surgery societies ‐ European Society for Vascular Surgery (level 1 recommendation) and Society for Vascular Surgery (level 2 recommendation). In addition to its academic and scientific justification, based on the current evidence, the benefits of an AAA screening program in terms of public health are undeniable and irrefutable.

Exploring attitudes and preferences for dementia screening in Britain: contributions from carers and the general public.

BackgroundDementia is becoming one of the most important emerging public health concerns in a generation. In societal approaches to the mitigation of major disease ‘burden’, population screening can sometimes provide an effective approach to improving detection of disease and outcomes. However the acceptability of a systematic population screening programme for dementia, to the British public, is not known.MethodsA Patient and Public Involvement (PPI) event was organised to give members of the public from the East of England an opportunity to offer their perspectives and to comment on the findings of a systematic literature review looking at attitudes and preferences towards screening for dementia. The event was attended by 36 members of the public and eight national Alzheimer’s Society Research Network volunteers. The morning discussion contained a presentation, which defined population screening for attendees but contained no reference to the findings of the review. In the afternoon, findings of the review were presented and a discussion on the results was facilitated. The discussions were recorded, transcribed and subjected to thematic analysis. The NVivo qualitative data software was used to facilitate this process.ResultsA total of 23 key themes emerged in relation to the carer and general population. The most frequent themes which emerged were the low levels of understanding and awareness around the dementia syndrome; the acceptability and validity of any tests; costs to the National Health Service (NHS); an individual’s existing health status existing health status; financial/profit motive for screening; the inability to change prognosis; and the importance and availability of support.ConclusionsFactors such as personal beliefs, experiences and attitudes to health impact on decisions to be screened for dementia. A number of additional concerns were raised which were not previously identified in the systematic literature review. These were around the economic incentives for screening (profit motive), the provision of social support, and the economic/social impacts of screening programmes. This may reflect cultural differences in health and social care funding models between Britain and other countries where previous research was conducted.Electronic supplementary materialThe online version of this article (doi:10.1186/s12877-015-0100-6) contains supplementary material, which is available to authorized users.

Faut-il promouvoir le dépistage systématique de l’hémochromatose génétique en France ?

Genetic hemochromatosis meets the principal World Health Organization criteria for diseases warranting systematic population screening. Indeed, it is a frequent, late-onset, severe disease that is easy to diagnose and cure. However, its penetrance is much lower than thought prior to the discovery of the HFE1 gene, whose C282 Y mutation is responsible for more than 95% of cases with phenotypic expression. Moreover, several questions remain to be answered, notably concerning practical modalities [genotypic or phenotypic screening? at what age?, etc.], the risk of genetic discrimination, and cost-effectiveness. Current recommendations should include [i] broad information of the general population and GPs on early symptoms, [ii] transferrin saturation assay in all patients with symptoms compatible with hemochromatosis and, when elevated, genetic testing, the cost of which should be covered by public health insurance, [iii] both phenotypic and genotypic screening of all proband families, and [iv] implementation of regional and national pilot studies aimed at assessing disease penetrance and the acceptability and cost-effectiveness of large-scale screening.

L’hémochromatose génétique

Introduction. – Hereditary hemochromatosis is a fairly common disease in the Caucasian population, with a prevalence estimated at between 1.5 to 3/1,000 inhabitants. Over the past few years, its symptomatology has altered; at present, its clinical aspect with diabetes mellitus, cirrhosis, and darker skin pigmentation only constitutes 10% of new cases of this disease. Current knowledge and key points. – In 1996, the discovery of the C282Y mutation in the HFE gene radically altered the diagnostic approach to hereditary hemochromatosis. At present, any patient admitted with an isolated case of asthenia, or with arthralgia or hypertransaminasemia should be examined via transferrin-saturation testing: if the transferrin saturation coefficient is > 45%, then the presence of the C282Y mutation should be investigated to confirm the diagnosis of hemochromatosis. A liver biopsy is no longer necessary to establish the diagnosis, but this is still useful in cases of possible cirrhosis, which is the main risk factor for hepatocellular carcinoma. Phlebotomy remains the sole recommended treatment, and should be undertaken in a case-specific manner. Family screening should be carried out for all first-degree relatives for every new case that is diagnosed. Future prospects and projects. – The discovery of the HFE gene has permitted hereditary hemochromatosis to be easily differentiated from other forms of hepatic iron overload including a new syndrome, dysmetabolic hepatosiderosis. Cases of homozygotic C282Y without hepatic iron overload have been described, but the clinical outcome of some of these cases requires further study, and adds to the controversy on whether systematic population screening should be made available.

The public health epidemiology of type 2 diabetes in children and adolescents: a case study of American Indian adolescents in the Southwestern United States

Type 2 diabetes among children and adolescents is a newly recognized disease in the United States. Because obesity and physical inactivity are increasing in children and adolescents, the prevalence of pediatric type 2 diabetes may increase and eventually become an important cause of adult morbidity and mortality. Data on type 2 diabetes in adolescents aged 15–19 years were compared between two sources: systematic population screening of the Gila River Indian Community by the National Institutes of Health (NIH), and reported cases by the Indian Health Service (IHS) from clinics in the Southwestern US. The current NIH estimate of prevalence of type 2 diabetes was much higher than the IHS estimate (5.1% vs. 0.46%). Both data sources, however, suggest a secular increase in prevalence between 1986 and 1996–97. These data are used to discuss the principles, applications, and challenges for accurate epidemiologic assessment of type 2 diabetes in children and adolescents.

A cost-benefit analysis of the Quebec network of genetic medicine

Certain serious diseases, including several major genetic disorders, cannot be treated effectively unless they are detected before symptoms appear. In such cases, only systematic population screening can ensure that the necessary preventive treatment can be administered to affected individuals. The question of whether to establish such screening programs, which may be relatively costly, is a problem for many public administrations. This study of the costs and benefits of the Quebec Network of Genetic Medicine has as its main objective the development of an analytical framework which can be generally applied to such problems. In this article, we attempt to evaluate the profitability of the Network to society. For the evaluation of the less tangible costs and benefits, we adopted the minimum profitability principle, which essentially involves establishing a lower bound on the value of the profitability of the Network. The net benefits assessed by this study, although certainly underestimated, are still very significant. Since the Network is administered by a team of researchers, the study also throws some light on the links existing between research and development activities on the one hand and public services on the other, and hence on the general question of the socioeconomic profitability of biomedical research.