Cost-effectiveness Of Screening Program Research Articles

Newborn screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency in Bihar: A pressing priority in today's time.

Newborn screening (NBS) aims towards early detection of congenital disorders or prevention of intellectual and physical defects and life-threatening illness. Three disorders namely congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH) and glucose-6-phosphate dehydrogenase deficiency (G-6-PDD) were selected for a preliminary study for NBS. The study aimed to establish NBS in the Indian scenario that could lay a framework for future such initiatives. A screening programme was conducted at a tertiary care hospital for 1 year. All the neonates born at All India Institute of Medical Sciences (AIIMS), Patna, were screened for their blood levels of glucose-6-phosphate dehydrogenase (G-6-PD), 17-hydroxyprogesterone (17-OHP) and thyroid-stimulating hormone (TSH). Heel-prick blood samples were collected within 48-72 h of birth, and the level of these parameters was accessed by enzyme immunoassay (EIA). A total of 492 neonates were born from January 2020 to December 2020, of which 369 newborns were screened for CAH, CH and G-6-PDD. Of 369 neonates, one case (male) had an increased level of TSH, six cases (all males) had an increased level of 17-OHP and no case was found with G-6-PDD. Preliminary data on the prevalence of various genetic disorders revealed that CAH is the most prevalent disorder followed by CH in the population of Bihar. More efforts need to be undertaken to create awareness and to make screening a successful programme in India. A cost-effective nationwide screening programme is highly recommended for the detection of such cases at the earliest to avoid their future complication.

Prevalence and risk factors associated with dysglycemia among overweight and obese Palestinian adolescents in the Hebron governorate

Background: The prevalence of dysglycemia among adolescents and younger children has been rising, yet health professionals are still unaware of the significance of this problem. According to the Palestinian Ministry of Health (MOH) records, most diabetic children under the age of 20 in Palestine are classified as type 1; nonetheless, very limited data are available for policymakers to frame cost-effective screening programs. This study aims to determine the prevalence of dysglycemia in a sample of obese and overweight Palestinian adolescents, identify risk factors associated with dysglycemia, and examine risk factors variance by gender. Methods: A cross-sectional sample of observed obese and overweight adolescents was selected from public schools in the Hebron governorate. Informed consent, physical examination, anthropometric, and laboratory tests (Random Blood Glucose Level (BGL) and fasting BGL ) were performed on a sample of 511 students (44.6% boys and 55.4% girls) aged 13–18-years (13-15 years =46.2% and 16-18 years =53.8%). Results: The prevalence of confirmed overweight and obese cases was 73.2%, and dysglycemia prevalence among the confirmed cases was 3.7% (5.3% boys and 2.5% girls). The BMI classifications of the dysglycemic children indicated that 42.1% were overweight and 31.1% were obese. Furthermore, 64.6% reported high systolic and/or diastolic blood pressure readings. Conclusions: The results of this study provide valuable information about the rising problem of dysglycemia among Palestinian adolescents and underlines the need for rapid screening programs and protocols for early detection and classification of the disease, leading to initiation of early prevention and treatment plans.

DNA methylation as a triage marker for colposcopy referral in HPV-based cervical cancer screening: a systematic review and meta-analysis

BackgroundScreening plays a key role in secondary prevention of cervical cancer. High-risk human papillomavirus (hrHPV) testing, a highly sensitive test but with limited specificity, has become the gold standard frontline for screening programs. Thus, the importance of effective triage strategies, including DNA methylation markers, has been emphasized. Despite the potential reported in individual studies, methylation markers still require validation before being recommended for clinical practice. This systematic review and meta-analysis aimed to evaluate the performance of DNA methylation-based biomarkers for detecting high-grade intraepithelial lesions (HSIL) in hrHPV-positive women.MethodsHence, PubMed, Scopus, and Cochrane databases were searched for studies that assessed methylation in hrHPV-positive women in cervical scrapes. Histologically confirmed HSIL was used as endpoint and QUADAS-2 tool enabled assessment of study quality. A bivariate random-effect model was employed to pool the estimated sensitivity and specificity as well as positive (PPV) and negative (NPV) predictive values.ResultsTwenty-three studies were included in this meta-analysis, from which cohort and referral population-based studies corresponded to nearly 65%. Most of the women analyzed were Dutch, and CADM1, FAM19A4, MAL, and miR124-2 were the most studied genes. Pooled sensitivity and specificity were 0.68 (CI 95% 0.63–0.72) and 0.75 (CI 95% 0.71–0.80) for cervical intraepithelial neoplasia (CIN) 2+ detection, respectively. For CIN3+ detection, pooled sensitivity and specificity were 0.78 (CI 95% 0.74–0.82) and 0.74 (CI 95% 0.69–0.78), respectively. For pooled prevalence, PPV for CIN2+ and CIN3+ detection were 0.514 and 0.392, respectively. Furthermore, NPV for CIN2+ and CIN3+ detection were 0.857 and 0.938, respectively.ConclusionsThis meta-analysis confirmed the great potential of DNA methylation-based biomarkers as triage tool for hrHPV-positive women in cervical cancer screening. Standardization and improved validation are, however, required. Nevertheless, these markers might represent an excellent alternative to cytology and genotyping for colposcopy referral of hrHPV-positive women, allowing for more cost-effective screening programs.

Prevalence and risk factors associated with dysglycemia among overweight and obese Palestinian children in the Hebron governorate

Background: The prevalence of dysglycemia among adolescents and younger children has been rising, yet health professionals are still unaware of the significance of this problem. According to the Palestinian Ministry of Health (MOH) records, most diabetic children under the age of 20 in Palestine are classified as type I; nonetheless, very limited data are available for policymakers to frame cost-effective screening programs. This study aims to determine the prevalence of dysglycemia in a sample of obese and overweight Palestinian children, identify risk factors associated with dysglycemia, and examine risk factors variance by gender. Methods: A cross-sectional sample of observed obese and overweight children was selected from public schools in the Hebron governorate. Informed consent, physical examination, anthropometric, and laboratory tests (Blood Glucose Level (BGL) and fasting BGL ) were performed on a sample of 511 students (44.6% boys and 55.4% girls) aged 13–18-years (13-15 years =46.2% and 16-18 years =53.8%). Results: The prevalence of confirmed overweight and obese cases was 73.2%, and dysglycemia prevalence among the confirmed cases was 3.7% (5.3% boys and 2.5% girls). The BMI classifications of the prediabetic children indicated that 42.1% were overweight and 31.1% were obese. Furthermore, 6.7% reported hypertension (both systolic and diastolic hypertension). Conclusions: The results of this study provide valuable information about the rising problem of dysglycemia among Palestinian children and underlines the need for rapid screening programs and protocols for early detection and classification of the disease, leading to initiation of early prevention and treatment plans.

Diabetic retinopathy in China: Epidemiology, screening and treatment trends-A review.

Diabetic retinopathy (DR) is the leading cause of vision impairment in the global working-age population. In China, with one-third of the world's diabetes population estimated at 141 million, the blindness prevalence due to DR has increased significantly. The country's geographic variations in socioeconomic status have led to prominent disparities in DR prevalence, screening and management. Reported risk factors for DR in China include the classic ones, such as long diabetes duration, hyperglycaemia, hypertension and rural habitats. There is no national-level DR screening programme in China, but significant pilot efforts are underway for screening innovations. Novel agents with longer durations, noninvasive delivery or multi-target are undergoing clinical trials in China. Although optimised medical insurance policies have enhanced accessibility for expensive therapies like anti-VEGF drugs, further efforts in DR prevention and management in China are required to establish nationwide cost-effective screening programmes, including telemedicine and AI-based solutions, and to improve insurance coverage for related out-of-pocket expenses.

Lo screening nella retinopatia diabetica

Diabetic retinopathy (DR) is the main ocular complication of diabetes. Among all the causes of blindness, it is the only one whose global pre-valence has increased over the past 30 years. DR prevalence is expected to increase in the upcoming years. Therefore, it is essential to establish cost-effective screening programs for early diagnosis of DR, which using new imaging systems, telemedicine and artificial intelligence prevent its evolution to advanced sight-threatening stages.

Preventing rheumatoid arthritis: Lessons from that of type 1 diabetes

Preventing rheumatoid arthritis: Lessons from that of type 1 diabetes

The Global Expansion of LTBI Screening and Treatment Programs: Exploring Gaps in the Supporting Economic Evidence

The global burden of latent TB infection (LTBI) and the progression of LTBI to active TB disease are important drivers of ongoing TB incidence. Addressing LTBI through screening and TB preventive treatment (TPT) is critical in order to end the TB epidemic by 2035. Given the limited resources available to health ministries around the world in the fight against TB, we must consider economic evidence for LTBI screening and treatment strategies to ensure that limited resources are used to achieve the biggest health impact. In this narrative review, we explore key economic evidence around LTBI screening and TPT strategies in different populations to summarize our current understanding and highlight gaps in existing knowledge. When considering economic evidence supporting LTBI screening or evaluating different testing approaches, a disproportionate number of economic studies have been conducted in high-income countries (HICs), despite the vast majority of TB burden being borne in low- and middle-income countries (LMICs). Recent years have seen a temporal shift, with increasing data from low- and middle-income countries (LMICs), particularly with regard to targeting high-risk groups for TB prevention. While LTBI screening and prevention programs can come with extensive costs, targeting LTBI screening among high-risk populations, such as people living with HIV (PLHIV), children, household contacts (HHC) and immigrants from high-TB-burden countries, has been shown to consistently improve the cost effectiveness of screening programs. Further, the cost effectiveness of different LTBI screening algorithms and diagnostic approaches varies widely across settings, leading to different national TB screening policies. Novel shortened regimens for TPT have also consistently been shown to be cost effective across a range of settings. These economic evaluations highlight key implementation considerations such as the critical nature of ensuring high rates of adherence and completion, despite the costs associated with adherence programs not being routinely assessed and included. Digital and other adherence support approaches are now being assessed for their utility and cost effectiveness in conjunction with novel shortened TPT regimens, but more economic evidence is needed to understand the potential cost savings, particularly in settings where directly observed preventive therapy (DOPT) is routinely conducted. Despite the growth of the economic evidence base for LTBI screening and TPT recently, there are still significant gaps in the economic evidence around the scale-up and implementation of expanded LTBI screening and treatment programs, particularly among traditionally hard-to-reach populations.

The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR

Head and neck paragangliomas (HNPGLs) are rare neuroendocrine neoplasms derived from the parasympathetic paraganglia of the head and neck. At least 30% of HNPGLs are linked to germline mutations, predominantly in SDHx genes. In this study, we analyzed an extended cohort of Russian patients with HNPGLs using whole-exome sequencing and found a highly frequent missense variant p.H102R in the SDHD gene. We determined this variant in 34% of the SDHD mutation carriers. This variant was associated with somatic loss of the gene wild-type allele. Data from the B allele frequency method and microsatellite and microdeletion analysis indicated evident LOH at the 11p15.5 region and potential loss of the whole of chromosome 11. We found hypermethylation of H19-DMR in all tumors, whereas differential methylation of KvDMR was mostly retained. These findings do not support the paternal transmission of SDHD:p.H102R but are in agreement with the Hensen model. Using targeted sequencing, we also studied the variant frequency in a control cohort; we found SDHD:p.H102R in 1.9% of cases, allowing us to classify this variant as pathogenic. The immunohistochemistry of SDHB showed that the SDHD:p.H102R mutation, even in combination with wild-type allele loss, does not always lead to SDH deficiency. The obtained results demonstrate the frequent variant associated with HNPGLs in a Russian population and support its pathogenicity. Our findings help with understanding the mechanism of tumorigenesis and are also important for the development of cost-effective genetic screening programs.

Structured Early detection of Asymptomatic Liver Cirrhosis: Results of the population-based liver screening program SEAL.

Detection of patients with early cirrhosis is of importance to prevent the occurrence of complications and improve prognosis. The SEAL program aimed at evaluating the usefulness of a structured screening procedure to detect cirrhosis as early as possible. SEAL was a prospective cohort study with a control cohort from routine care data. Individuals participating in the general German health check-up after the age of 35 ("Check-up 35") at their primary care physicians were offered a questionnaire, liver function tests (aspartate and alanine aminotransferase [AST and ALT]), and follow-up. If AST/ALT levels were elevated, the AST-to-platelet ratio index (APRI) score was calculated, and patients with a score >0.5 were referred to a liver expert in secondary and/or tertiary care. A total of 11,859 participants were enrolled and available for final analysis. The control group comprised 349,570 participants of the regular Check-up 35. SEAL detected 488 individuals with elevated APRI scores (4.12%) and 45 incident cases of advanced fibrosis/cirrhosis. The standardized incidence of advanced fibrosis/cirrhosis in the screening program was slightly higher than in controls (3.83‰ vs. 3.36‰). The comparison of the chance of fibrosis/cirrhosis diagnosis in SEAL vs. in standard care was inconclusive (marginal odds ratio 1.141, one-sided 95% CI 0.801,+Inf). Of note, when patients with decompensated cirrhosis at initial diagnosis were excluded from both cohorts in a post hoc analysis, SEAL was associated with a 59% higher chance of early cirrhosis detection on average than routine care (marginal odds ratio 1.590, one-sided 95% CI 1.080,+Inf; SEAL 3.51‰, controls: 2.21‰). The implementation of a structured screening program may increase the early detection rate of cirrhosis in the general population. In this context, the SEAL pathway represents a feasible and potentially cost-effective screening program. DRKS00013460 LAY SUMMARY: Detection of patients with early liver cirrhosis is of importance to prevent the occurrence of complications and improve prognosis. This study demonstrates that the implementation of a structured screening program using easily obtainable measures of liver function may increase the early detection rate of cirrhosis in the general population. In this context, the 'SEAL' pathway represents a feasible and potentially cost-effective screening program.

Prevalence of Hypothyroidism in Singleton Pregnant Womena and Perinatal Outcome Using TSH Levels as a Screening Tool

Background: Thyroid dysfunction comes from poor adjustment to changes in the mother's thyroid function during pregnancy. Higher thyroid hormone-binding globulin (TBG) concentration, increased iodine clearance in the kidneys, and the thyrotrophic impact of human chorionic gonadotropin are some of the causes of these changes in thyroid function (HCG). Objectives: 1. To study the prevalence of hypothyroidism in pregnant women using TSH levels as a screening tool. 2. To evaluate the Perinatal outcome in detected hypothyroid cases. Material & Methods: Prospective hospital based cross – sectional study. Study conducted in the Department of Obstetrics and Gynecology, Gayatri Vidya Parishad Institute of Healthcare & Medical Technology, Vishakhapatnam, Andhra Pradesh over a period of 1 year. Pregnant women attending to the Department of Obstetrics and Gynaecology for the routine check-ups. Simple Random sampling method. This study involves screening 200 consenting eligiblewomen. The normal patients served as controls. The patients were classified as euthyroid, hypothyroid and hyperthyroid based on their TSH levels. Those with deranged TSH levels will undergo free T4 testing and they will be further divided into subclinical and overt hypothyroid patients these patients will be formed into study groups. Results: In this study, out of all hypothyroid women 37.5% had complications and 62.5% had no complications. 5.6% of the adequately treated hypothyroid women and 78.6% of the inadequately treated hypothyroid women had complications. There was a statistically significant difference in the pregnancy outcome amongst hypothyroid women based on the adequacy of treatment. The occurrence of complications was high in inadequately treated women. (Chi square value= 17.35, p value = <0.0001) Conclusion: In my study, the prevalence of hypothyroidism was found to be 16% and majority of complications were found to occur in patients who were treated inadequately. Thus, universal thyroid screening in pregnancy meets the majority of the criteria for a beneficial and cost-effective screening programme, and it holds promise for improving foetal and maternal outcomes.

Cost-effectiveness analysis of newborn screening by tandem mass spectrometry in Shenzhen, China: value and affordability of new screening technology

BackgroundNewborn screening (NBS) can prevent inborn errors of metabolism (IEMs), which may cause long-term disability and even death in newborns. However, in China, tandem mass spectrometry (MS/MS) screening has just started. This study aimed to assess the cost-effectiveness of NBS using MS/MS in Shenzhen under the nationally recommended program, as well as evaluate the value and affordability of introducing this new screening technology.MethodsA Markov model was built to estimate the cost and quality-adjusted life-years (QALYs) of different screening programs. We compared PKU screening using traditional immunofluorescence (IF) with the other 11 IEMs not screened and all 12 IEMs screened using MS/MS, and the programs detecting different numbers of IEMs chosen from the national recommended program were also compared. A sensitivity analysis and budget impact analysis (BIA) were performed.ResultsThe incremental cost-effectiveness ratio (ICER) of detecting all 12 IEMs in the national program is 277,823 RMB per QALY, below three times per capita GDP in Shenzhen. MS/MS screening in Shenzhen can be cost-effective only if at least three diseases (PKU, PCD and MMA) are covered and when the screening program covers five diseases (PKU, PCD, MMA, MSUD, IVA), the ICER closely approaches its critical threshold. The BIA indicated the implementation cost of the national program to be around 490 million RMB over 10 years and showed no difference in budget between programs detecting different numbers of IEMs.ConclusionsWe conclude that the newborn screening using MS/MS in Shenzhen is cost-effective, and the budget affordable for the Shenzhen government. Two concepts for selecting the IEMs to be detected are also presented. One is to choose the most cost-effective screening programs detecting highest number of IEMs to achieve a minimal ICER. The other considers the curability and affordability of the disease as the basis of healthcare decisions to screen suitable IEMs, achieving an ICER under the threshold and close to the minimum value.

Chlamydia trachomatis as a Current Health Problem: Challenges and Opportunities.

Chlamydia is one of the most common sexually transmitted bacterial infections (STIs) worldwide. It is caused by Chlamydia trachomatis (CT), which is an obligate intracellular bacterium. In some cases, it can occur in coinfection with other parasites, increasing the pathologic potential of the infection. The treatment is based on antibiotic prescription; notwithstanding, the infection is mostly asymptomatic, which increases the risk of transmission. Therefore, some countries have implemented Chlamydia Screening Programs in order to detect undiagnosed infections. However, in Portugal, there is no CT screening plan within the National Health Service. There is no awareness in the general healthcare about the true magnitude of this issue because most of the methods used are not Nucleic Acid Amplification Technology-based and, therefore, lack sensitivity, resulting in underreporting infection cases. CT infections are also associated with possible long-term severe injuries. In detail, persistent infection triggers an inflammatory milieu and can be related to severe sequels, such as infertility. This infection could also trigger gynecologic tumors in women, evidencing the urgent need for cost-effective screening programs worldwide in order to detect and treat these individuals adequately. In this review, we have focused on the success of an implemented screening program that has been reported in the literature, the efforts made concerning the vaccine discovery, and what is known regarding CT infection. This review supports the need for further fundamental studies in this area in order to eradicate this infection and we also suggest the implementation of a Chlamydia Screening Program in Portugal.

Liquid Biopsy — A Novel Diagnostic Tool for Management of Early-Stage Peripheral Lung Cancer

Abstract Lung cancer is the leading cause of cancer-related mortality worldwide. Early diagnosis of lung cancer is hampered by the absence of specific symptoms and the lack of a widely recognised cost-effective screening programme. Acquisition of a tumour tissue sample for morphological and molecular genetic examination is of paramount importance for cancer diagnosis. We describe diagnostic challenges for early-stage lung cancer and their possible current solutions. Liquid biopsy is a relatively new technology that was developed for evaluation of tumour-related circulating genetic material. Recent achievements in data processing provide more opportunities for wider implementation of Next Generation Sequencing (NGS) in clinical practice. This article summarises available data on the current and future role of liquid biopsy in the management of lung cancer. We also present an ongoing Latvian lung cancer study that focuses on integration of liquid biopsy with comprehensive clinical data utilising advantages of information technologies.

Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.

BackgroundSeveral inherited metabolic diseases are underreported in Vietnam, namely glucose‐6‐phosphate dehydrogenase deficiency (G6PDd), phenylketonuria (PKU) and galactosemia (GAL). Whilst massively parallel sequencing (MPS) allows researchers to screen several loci simultaneously for pathogenic variants, no screening programme uses MPS to uncover the variant spectra of these diseases in the Vietnamese population.MethodsPregnant women (mean age of 32) from across Vietnam attending routine prenatal health checks agreed to participate and had their blood drawn. MPS was used to detect variants in their G6PD, PAH and GALT genes.ResultsOf 3259 women screened across Vietnam, 450 (13.8%) carried disease‐associated variants for G6PD, PAH and GALT. The prevalence of carriers was 8.9% (291 of 3259) in G6PD and 4.6% (152 of 3259) in PKU, whilst GAL was low at 0.2% (7 of 3259). Two GALT variants, c.593 T > C and c.1034C > A, have rarely been reported.ConclusionThis study highlights the need for routine carrier screening, where women give blood whilst receiving routine prenatal care, in Vietnam. The use of MPS is suitable for screening multiple variants, allowing for identifying rare pathogenic variants. The data from our study will inform policymakers in constructing cost‐effective genetic metabolic carrier screening programmes.

Analysis Variants of the CFTR Gene in Iranian Cystic Fibrosis Patients

Background: Cystic fibrosis (CF) is known as one of the most common autosomal recessive disorders, which is caused by mucosal glands. A deficiency in the Cystic fibrosis transmembrane conductance regulator gene (CFTR), which encodes a chloride channel, triggers damage to epithelial cells in respiratory ducts, pancreas, intestine, genital ducts in males, liver system, and sweat glands. Objective: This study aimed to conduct the sequencing of 27 exons of the CFTR gene to screen the spectrum of the variants in patients from all over Iran from different ethnicities. Methods: This study is a descriptive-analytical, that was performed for eleven years from 2010 to 2021. Totally 345 patients were referred to Tehran Medical Genetics Laboratory by specialists. These patients were categorized into four groups. The first group included clinically confirmed patients of CF having clinical features and biochemical abnormalities, plus a positive sweat chloride test. The second group included couples with an alive or deceased child affected. The third group included CBAVD (Congenital bilateral absence of the vas deferens) cases, and the fourth group included prenatal diagnoses who were looking for carrier detection, or her spouse is affected with CBAVD. Results: Fifty-four variants and five deletions were found from 345 patients, the most common frequent variant were c.1521_1523delCTT ([delta]F508) (47 (6.81%)), c.1000C>T (R334W, 31 (4.45%)), c.1911delG (2043delG, 25 (3.62%)), c.2051_2052delAAinsG (2183AA->G, 15 (2.17%)), c.1624G>T (G542X, 12 (1.74%)), c.1697C>A (A566D, 12 (1.74%)), c.1210-12T [5] (9(1.30%)) and c.3196C>T (R1066C,7 (1.01%)) respectively and frequency of other variants were less than 1%. Deletion in some exons was established by MLPA assay, the most common deletion was c. (53+1_54-1) _ (164+1_165-1) del (CFTRdele2, 7 (1.01%)). Conclusions: This study improves our knowledge concerning carrier analysis and genetic counseling. Also, it helps to develop a cost-effective newborn screening program.

Status of breast cancer screening strategies and indicators in Iran: A scoping review.

Background:This scoping review aimed to investigate the status of breast cancer (BC) preventive behaviors and screening indicators among Iranian women in the past 15 years. BC, as the most common cancer in women, represents nearly a quarter (23%) of all cancers. Presenting the comprehensive view of preventive modalities of BC in the past 15 years in Iran may provide a useful perspective for future research to establish efficient services for timely diagnosis and control of the disease.Materials and Methods:The English and Persian articles about BC screening modalities and their indicators in Iran were included from 2005 to 2020. English electronic databases of Web of Science, PubMed, and Scopus, and Persian databases of Scientific Information Database (SID) and IranMedex were used. The critical information of articles was extracted and classified into different categories according to the studied outcomes.Results:A total of 246 articles were assessed which 136 of them were excluded, and 110 studies were processed for further evaluation. Performing breast self-examination, clinical breast examination, and mammography in Iranian women reported 0%–79.4%, 4.1%–41.1%, and 1.3%-45%, respectively. All of the educational interventions had increased participants’ knowledge, attitude, and practice in performing the screening behaviors. The most essential screening indicators included participation rate (3.8% to 16.8%), detection rate (0.23–8.5/1000), abnormal call rate (28.77% to 33%), and recall rate (24.7%).Conclusion:This study demonstrated heterogeneity in population and design of research about BC early detection in Iran. The necessity of a cost-effective screening program, presenting a proper educational method for increasing women's awareness and estimating screening indices can be the priorities of future researches. Establishing extensive studies at the national level in a standard framework are advised

Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencing.

Accurate profiling of population-specific recessive diseases is essential for the design of cost-effective carrier screening programs. However, minority populations and ethnic groups, including Vietnamese, are still underrepresented in existing genetic studies. Here, we reported the first comprehensive study of recessive diseases in the Vietnamese population. Clinical exome sequencing data of 4503 disease-associated genes obtained from a cohort of 985 Vietnamese individuals was analyzed to identify pathogenic variants, associated diseases and their carrier frequencies in the population. A total of 118 recessive diseases associated with 164 pathogenic or likely pathogenic variants were identified, among which 28 diseases had carrier frequencies of at least 1% (1 in 100 individuals). Three diseases were prevalent in the Vietnamese population with carrier frequencies of 2-12 times higher than in the world populations, including beta-thalassemia (1 in 23), citrin deficiency (1 in 31), and phenylketonuria (1 in 40). Seven novel pathogenic and two likely pathogenic variants associated with nine recessive diseases were discovered. The comprehensive profile of recessive diseases identified in this study enables the design of cost-effective carrier screening programs specific to the Vietnamese population.

The Costs and Benefits of Risk Stratification for Colorectal Cancer Screening Based On Phenotypic and Genetic Risk: A Health Economic Analysis.

Population-based screening for colorectal cancer is an effective and cost-effective way of reducing colorectal cancer incidence and mortality. Many genetic and phenotypic risk factors for colorectal cancer have been identified, leading to development of colorectal cancer risk scores with varying discrimination. However, these are not currently used by population screening programs. We performed an economic analysis to assess the cost-effectiveness, clinical outcomes, and resource impact of using risk-stratification based on phenotypic and genetic risk, taking a UK National Health Service perspective. Biennial fecal immunochemical test (FIT), starting at an age determined through risk-assessment at age 40, was compared with FIT screening starting at a fixed age for all individuals. Compared with inviting everyone from age 60, using a risk score with area under the receiver operating characteristic curve of 0.721 to determine FIT screening start age, produces 418 QALYs, costs £247,000, and results in 218 fewer colorectal cancer cases and 156 fewer colorectal cancer deaths per 100,000 people, with similar FIT screening invites. There is 96% probability that risk-stratification is cost-effective, with net monetary benefit (based on £20,000 per QALY threshold) estimated at £8.1 million per 100,000 people. The maximum that could be spent on risk-assessment and still be cost-effective is £114 per person. Lower benefits are produced with lower discrimination risk scores, lower mean screening start age, or higher FIT thresholds. Risk-stratified screening benefits men more than women. Using risk to determine FIT screening start age could improve the clinical outcomes and cost effectiveness of colorectal cancer screening without using significant additional screening resources. PREVENTION RELEVANCE: Colorectal cancer screening is essential for early detection and prevention of colorectal cancer, but implementation is often limited by resource constraints. This work shows that risk-stratification using genetic and phenotypic risk could improve the effectiveness and cost-effectiveness of screening programs, without using substantially more screening resources than are currently available.

Cost-effectiveness of a population-based AAA screening program for men over 65 years old in Iran

BackgroundScreening program tend to recognized patients in their early stage and consequently improve health outcomes. Cost-effectiveness of the abdominal aortic aneurysm (AAA) screening program has been scarcely studied in developing countries. We sought to evaluate the cost-effectiveness of a screening program for the abdominal aortic aneurysm (AAA) in men aged over 65 years in Iran.MethodsA Markov cohort model with 11 mutually exclusive health statuses was used to evaluate the cost-effectiveness of a population-based AAA screening program compared with a no-screening strategy. Transitions between the health statuses were simulated by using 3-month cycles. Data for disease transition probabilities and quality of life outcomes were obtained from published literature, and costs were calculated based on the price of medical services in Iran and the examination of the patients’ medical records. The outcomes were life-years gained, the quality-adjusted life-year (QALY), costs, and the incremental cost-effectiveness ratio (ICER). The analysis was conducted for a lifetime horizon from the payer’s perspective. Costs and effects were discounted at an annual rate of 3%. Uncertainty surrounding the model inputs was tested with deterministic and probabilistic sensitivity analyses.ResultsThe mean incremental cost of the AAA screening strategy compared with the no-screening strategy was $140 and the mean incremental QALY gain was 0.025 QALY, resulting in an ICER of $5566 ($14,656 PPP) per QALY gained. At a willingness-to-pay of 1 gross domestic product (GDP) per capita ($5628) per QALY gained, the probability of the cost-effectiveness of AAA screening was about 50%. However, at a willingness-to-pay of twice the GDP per capita per QALY gained, there was about a 95% probability for the AAA screening program to be cost-effective in Iran.ConclusionsThe results of this study showed that at a willingness-to-pay of 1 GDP per capita per QALY gained, a 1-time AAA screening program for men aged over 65 years could not be cost-effective. Nevertheless, at a willingness-to-pay of twice the GDP per capita per QALY gained, the AAA screening program could be cost-effective in Iran. Further, AAA screening in high-risk groups could be cost-effective at a willingness-to-pay of 1 GDP per capita per QALY gained.