Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.

Background: Patients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different rare diseases that have been recognized, and new diseases are discovered every month. Although very few people are affected by each uncommon disease individually, millions of people are thought to be impacted globally when all these conditions are considered. Therefore, RDs represent an important public health concern. Although crucial for clinical care, early and correct diagnosis is still difficult to achieve in many nations, especially those with low and middle incomes. Consequently, a sizeable amount of the overall burden of RD is attributable to undiagnosed RD (URD). Existing barriers and policy aspects impacting the care of patients with RD and URD remain to be investigated. Methods: To identify unmet needs and opportunities for patients with URD, the Developing Nations Working Group of the Undiagnosed Diseases Network International (DNWG-UDNI) conducted a survey among its members, who were from 20 different nations. The survey used a mix of multiple choice and dedicated open questions covering a variety of topics. To explore reported needs and analyze them in relation to national healthcare economical aspects, publicly available data on (a) World Bank ranking; (b) Current health expenditure per capita; (c) GDP per capita; (d) Domestic general government health expenditure (% of GDP); and (e) Life expectancy at birth, total (years) were incorporated in our study. Results: This study provides an in-depth evaluation of the unmet needs for 20 countries: low-income (3), middle-income (10), and high-income (7). When analyzing reported unmet needs, almost all countries (N = 19) indicated that major barriers still exist when attempting to improve the care of patients with UR and/or URD; most countries report unmet needs related to the availability of specialized care and dedicated facilities. However, while the countries ranked as low income by the World Bank showed the highest prevalence of referred unmet needs across the different domains, no specific trend appeared when comparing the high, upper, and low-middle income nations. No overt trend was observed when separating countries by current health expenditure per capita, GDP per capita, domestic general government health expenditure (% of GDP) and life expectancy at birth, total (years). Conversely, both the GDP and domestic general government health expenditure for each country impacted the presence of ongoing research. Conclusion: We found that policy characteristics varied greatly with the type of health system and country. No overall pattern in terms of referral for unmet needs when separating countries by main economic or health indicators were observed. Our findings highlight the importance of identifying actionable points (e.g., implemented orphan drug acts or registries where not available) in order to improve the care and diagnosis of RDs and URDs on a global scale.

Assessment of whole-exome sequencing results in neurogenetic diseases.

Neurogenetic diseases are rare genetic diseases in which neurological findings are prominent. Whole exome sequencing (WES) has led to great advances in the understanding of the causes of neurogenetic diseases. Etiological research ends with the WES method in many patients. This etiological research is called a "diagnostic odyssey" for many families. Here, we present the results of 168 patients who were previously undiagnosed and underwent WES with the suspicion of neurogenetic disease. A total of 168 cases, 94 males and 74 females, with suspected undiagnosed neurogenetic disease were included in the study. We presented the WES results of the patients. The mean age of patients at the time of WES request was 11 years (range 0.25-68 years). Seventy percent (n = 117) of the patients were born from consanguineous marriage. Most of the patients were children (n = 145). Patients were grouped according to age at the time of examination. Patients younger than 18 years of age at the time of examination were classified as children, otherwise adults. Seventy-eight patients had either a pathogenic variant or a likely pathogenic variant so the diagnostic rate for WES in our cohort was %46. Our experience showing the high diagnostic rate of WES, supports its use in undiagnosed neurogenetic diseases. It also affects medical treatment, prognosis and family planning by enabling early diagnosis in patients.

Funds dwindle for NIH program for puzzling cases.

Patient groups, hospitals urge continued support for the Undiagnosed Diseases Network.

Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases.

PURPOSE: To estimate the cost-effectiveness of genome sequencing (GS) for diagnosing critically ill infants and noncritically ill pediatric patients (children) with suspected rare genetic diseases from a United States health sector perspective. METHODS: A decision-analytic model was developed to simulate the diagnostic trajectory of patients. Parameter estimates were derived from a targeted literature review and meta-analysis. The model simulated clinical and economic outcomes associated with 3 diagnostic pathways: (1) standard diagnostic care, (2) GS, and (3) standard diagnostic care followed by GS. RESULTS: For children, costs of GS ($7284) were similar to that of standard care ($7355) and lower than that of standard care followed by GS pathways ($12,030). In critically ill infants, when cost estimates were based on the length of stay in the neonatal intensive care unit, the lowest cost pathway was GS ($209,472). When only diagnostic test costs were included, the cost per diagnosis was $17,940 for standard, $17,019 for GS, and $20,255 for standard care followed by GS. CONCLUSION: The results of this economic model suggest that GS may be cost neutral or possibly cost saving as a first line diagnostic tool for children and critically ill infants.

Rates of Undiagnosed Hypertension and Diagnosed Hypertension Without Anti-hypertensive Medication Following the Affordable Care Act.

BACKGROUND: The Affordable Care Act (ACA) Medicaid expansion improved access to health insurance and health care services. This study assessed whether the rate of patients with undiagnosed hypertension and the rate of patients with hypertension without anti-hypertensive medication decreased post-ACA in community health center (CHC). METHODS: We analyzed electronic health record data from 2012 to 2017 for 126,699 CHC patients aged 19-64 years with ≥1 visit pre-ACA and ≥1 post-ACA in 14 Medicaid expansion states. We estimated the prevalence of patients with undiagnosed hypertension (high blood pressure reading without a diagnosis for ≥1 day) and the prevalence of patients with hypertension without anti-hypertensive medication by year and health insurance type (continuously uninsured, continuously insured, gained insurance, and discontinuously insured). We compared the time to diagnosis or to anti-hypertensive medication pre- vs. post-ACA. RESULTS: Overall, 37.3% of patients had undiagnosed hypertension and 27.0% of patients with diagnosed hypertension were without a prescribed anti-hypertensive medication for ≥1 day during the study period. The rate of undiagnosed hypertension decreased from 2012 through 2017. Those who gained insurance had the lowest rates of undiagnosed hypertension (2012: 14.8%; 2017: 6.1%). Patients with hypertension were also more likely to receive anti-hypertension medication during this period, especially uninsured patients who experienced the largest decline (from 47.0% to 8.1%). Post-ACA, among patients with undiagnosed hypertension, time to diagnosis was shorter for those who gained insurance than other insurance types. CONCLUSIONS: Those who gained health insurance were appropriately diagnosed with hypertension faster and more frequently post-ACA than those with other insurance types. CLINICAL TRIALS REGISTRATION: Trial Number NCT03545763.

Burden of prediabetes, undiagnosed, and poorly or potentially sub-controlled diabetes: Lolland-Falster health study.

BACKGROUND: This study aimed to investigate prevalence and risk factors for prediabetes, undiagnosed diabetes mellitus, poorly and potentially sub-controlled diabetes in a rural-provincial general adult population in Denmark. METHODS: Using cross-sectional data from the Lolland-Falster Health Study, we examined a total of 10,895 individuals aged 20 years and above. RESULTS: Prevalence of prediabetes was 5.8% (men: 6.1%; women: 5.5%); of undiagnosed diabetes 0.8% (men: 1.0%; women: 0.5%); of poorly controlled diabetes 1.2% (men: 1.5%; women: 0.8%); and of potentially sub-controlled diabetes 2% (men: 3.0%; women: 1.3%). In total, 9.8% of all participants had a diabetes-related condition in need of intervention; men at a higher risk than women; RR 1.41 (95% CI 1.26-1.58); person aged + 60 years more than younger; RR 2.66 (95% CI 2.34-3.01); obese more than normal weight person, RR 4.51 (95% CI 3.79-5.38); smokers more than non-smokers, RR 1.38 (95% CI 1.19-1.62); persons with self-reported poor health perception more than those with good, RR 2.59 (95% CI 2.13-3.15); low leisure time physical activity more than those with high, RR 2.64 (95% CI 2.17-3.22); and persons with self-reported hypertension more than those without, RR 3.28 (95% CI 2.93-3.68). CONCLUSIONS: In the Lolland-Falster Health Study, nearly 10% of participants had prediabetes, undiagnosed diabetes, poorly controlled, or potentially sub-controlled diabetes. The risk of these conditions was more than doubled in persons with self-reported poor health perception, self-reported hypertension, low leisure time physical activity, or measured obesity, and a large proportion of people with diabetes-related conditions in need of intervention can therefore be identified relatively easily.

The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes.

Alpha-1 antitrypsin deficiency (AATD), mainly due to the PI*ZZ genotype in SERPINA1, is one of the most common inherited diseases. Since it is associated with a high disease burden and partially prevented by smoking cessation, identification of PI*ZZ individuals through genotyping could improve health outcomes.We examined the frequency of the PI*ZZ genotype in individuals with and without diagnosed AATD from UK Biobank, and assessed the associations of the genotypes with clinical outcomes and mortality. A phenome-wide association study (PheWAS) was conducted to reveal disease associations with genotypes. A polygenic risk score (PRS) for forced expiratory volume in 1 s (FEV1)/forced vital capacity (FVC) ratio was used to evaluate variable penetrance of PI*ZZ.Among 458 164 European-ancestry participants in UK Biobank, 140 had the PI*ZZ genotype and only nine (6.4%, 95% CI 3.4-11.7%) of them were diagnosed with AATD. Those with PI*ZZ had a substantially higher odds of COPD (OR 8.8, 95% CI 5.8-13.3), asthma (OR 2.0, 95% CI 1.4-3.0), bronchiectasis (OR 7.3, 95%CI 3.2-16.8), pneumonia (OR 2.7, 95% CI 1.5-4.9) and cirrhosis (OR 7.8, 95% CI 2.5-24.6) diagnoses and a higher hazard of mortality (2.4, 95% CI 1.2-4.6), compared to PI*MM (wildtype) (n=398 424). These associations were stronger among smokers. PheWAS demonstrated associations with increased odds of empyema, pneumothorax, cachexia, polycythaemia, aneurysm and pancreatitis. Polygenic risk score and PI*ZZ were independently associated with FEV1/FVC <0.7 (OR 1.4 per 1-sd change, 95% CI 1.4-1.5 and OR 4.5, 95% CI 3.0-6.9, respectively).The important underdiagnosis of AATD, whose outcomes are partially preventable through smoking cession, could be improved through genotype-guided diagnosis.

Reproductive Healthcare Needs of Sex Workers in Rural South Africa: A Community Assessment.

Background: In the Limpopo province of South Africa, access and availability of women's health services are limited and many challenges exist for a growing population of transient sex workers. This study was developed to place communities at the forefront to more specifically understand regional barriers and attitudes regarding reproductive health care needs. Objective: To build strong community partnerships, gain understanding of issues in women's health services, and collaborate with community members to address those issues. Methods: A mixed-methods study approach was used in rural South Africa. Participants were recruited through voluntary interest from a local health clinic performing outreach for migrant female sex workers. We (1) created partnerships and built trust within the community and (2) worked collaboratively to collect both qualitative and quantitative data, using community groups to discuss health needs as well as "knowledge, attitude, and practice" (KAP) surveys. Findings: Ninety-four sex workers participated. The survey data identified risk factors to poor reproductive healthcare outcomes, including limited education, young age at first sexual contact, large number of sexual partners, little knowledge of sexually transmitted infections, distrust in the use of healthcare facilities, and limited use of contraception. Community discussion groups revealed a desire for easier and more accessible healthcare, showing the biggest barriers to care are lack of money and transportation, and safety concerns related to profession, including fear of violence from partner and/or client. With input from civic leaders, public interest, and community outreach groups, a community advisory board was successfully formed for future collaboration. Conclusion: By working with local stakeholders and sex workers, we created an interactive and tailored assessment to discuss healthcare disparities. We helped foster community ownership, setting the stage for future implementation of sustainable and cooperative health programming.

Use of dental practices for the identification of adults with undiagnosed type 2 diabetes mellitus or non-diabetic hyperglycaemia: a systematic review.

AIM: Type 2 diabetes is a growing global challenge. Evidence exists demonstrating the use of primary care (non-hospital based) dental practices to identify, through risk assessments, those who may be at increased risk of type 2 diabetes or who may already unknowingly have the condition. This review aimed to synthesize evidence associated with the use of primary care dental services for the identification of undiagnosed non-diabetic hyperglycaemia or type 2 diabetes in adults, with particular focus on the pick-up rate of new cases. METHOD: Electronic databases were searched for studies reporting the identification of non-diabetic hyperglycaemia/type 2 diabetes in primary care dental settings. Returned articles were screened and two independent reviewers completed the data-extraction process. A descriptive synthesis of the included articles was undertaken due to the heterogeneity of the literature returned. RESULTS: Nine studies were identified, the majority of which utilized a two-stage risk-assessment process with risk score followed by a point-of-care capillary blood test. The main barriers cited were cost, lack of adequate insurance cover and people having previously been tested elsewhere. The pick-up rate of new cases of type 2 diabetes and non-diabetic hyperglycaemia varied greatly between studies, ranging from 1.7% to 24% for type 2 diabetes and from 23% to 45% for non-diabetic hyperglycaemia, where reported. CONCLUSION: This review demonstrates that although it appears there may be benefit in using the dental workforce to identify undiagnosed cases of non-diabetic hyperglycaemia and type 2 diabetes, further high-quality research in the field is required assessing both the clinical and cost effectiveness of such practice. (Prospero Registration ID: PROSPERO 2018 CRD42018098750).

Alternative type 2 diabetes screening tests may reduce the number of U.S. adults with undiagnosed diabetes.

AIM: To evaluate the U.S. population-level impact of two alternatives for initial type 2 diabetes screening [opportunistic random plasma glucose (RPG) > 6.7 mmol/l and a 1-h 50-g glucose challenge test (GCT) > 8.9 mmol/l] compared with American Diabetes Association (ADA)-recommended tests. METHODS: Using a sample (n = 1471) from the National Health and Nutrition Examination Survey (NHANES) 2013-2014 that represented 145 million U.S. adults at high risk for developing type 2 diabetes, we simulated a two-test screening process. We compared ADA-recommended screening tests [fasting plasma glucose (FPG), 2-h 75-g oral glucose tolerance test (OGTT), HbA1c ] vs. initial screening with opportunistic RPG or GCT (followed by FPG, OGTT or HbA1c ). After simulation, participants were entered into an individual-level Monte Carlo-based Markov lifetime outcomes model. Primary outcomes were representative number of U.S. adults correctly identified with type 2 diabetes, societal lifetime costs and quality-adjusted life years (QALYs). RESULTS: In NHANES 2013-2014, 100 individuals had undiagnosed diabetes [weighted estimate: 8.4 million, standard error (se): 1.1 million]. Among ADA-recommended screening tests, FPG followed by OGTT (FPG-OGTT) was most sensitive, identifying 35 individuals with undiagnosed diabetes (weighted estimate: 3.2 million, se: 0.9 million). Four alternative screening strategies performed superior to FPG-OGTT, with RPG followed by OGTT being the most sensitive overall, identifying 72 individuals with undiagnosed diabetes (weighted estimate: 6.1 million, se: 1.0 million). There was no increase in average lifetime costs and comparable QALYs. CONCLUSIONS: Initial screening using opportunistic RPG or a GCT may identify more U.S. adults with type 2 diabetes without increasing societal costs.

Diabetes in the UK: 2019.

AIM: Diabetes impairs the quality of life of people living with the condition and is a major public health concern. The aim of this paper is to create a state of the nation report of diabetes in the UK. METHODS: Diabetes UK collates information about diabetes from diverse sources. This paper synthesizes these data to create a national report. RESULTS: Some 7% of the UK population are now living with diabetes; approximately one million people have undiagnosed type 2 diabetes, 40 000 children have diabetes and more than 3000 children are diagnosed every year. Forty-nine per cent of people with type 1 diabetes were offered structured education, but only 7.6% attended; the corresponding figures for type 2 diabetes were 90% and 10.4%, respectively. Among people with diabetes, 28% reported having issues obtaining medication or equipment for self-management. Fifty-seven per cent of people with type 1 diabetes and 42% with type 2 diabetes do not receive all eight annual health checks. Around 40% of people with diabetes have diminished psychological well-being. One-third of people have a microvascular complication at the time of diagnosis of type 2 diabetes. Diabetes is responsible for 530 myocardial infarctions and 175 amputations every week. The National Health Service spends at least £10 billion a year on diabetes, equivalent to 10% of its budget; 80% is spent treating complications. One in six hospital inpatients has diabetes. CONCLUSION: Diabetes continues to place a significant burden on the individual with diabetes and wider UK society. This report will be updated annually to understand how diabetes is changing across the UK.

Cost-effectiveness of targeted screening for the identification of patients with atrial fibrillation: evaluation of a machine learning risk prediction algorithm.

Aims: As many cases of atrial fibrillation (AF) are asymptomatic, patients often remain undiagnosed until complications (e.g. stroke) manifest. Risk-prediction algorithms may help to efficiently identify people with undiagnosed AF. However, the cost-effectiveness of targeted screening remains uncertain. This study aimed to assess the cost-effectiveness of targeted screening, informed by a machine learning (ML) risk prediction algorithm, to identify patients with AF.Methods: Cost-effectiveness analyses were undertaken utilizing a hybrid screening decision tree and Markov disease progression model. Costs and outcomes associated with the detection of AF compared traditional systematic and opportunistic AF screening strategies to targeted screening informed by a ML risk prediction algorithm. Model analyses were based on adults ≥50 years and adopted the UK NHS perspective.Results: Targeted screening using the ML risk prediction algorithm required fewer patients to be screened (61 per 1,000 patients, compared to 534 and 687 patients in the systematic and opportunistic strategies) and detected more AF cases (11 per 1,000 patients, compared to 6 and 8 AF cases in the systematic and opportunistic screening strategies). The targeted approach demonstrated cost-effectiveness under base case settings (cost per QALY gained of £4,847 and £5,544 against systematic and opportunistic screening respectively). The targeted screening strategy was predicted to provide an additional 3.40 and 2.05 QALYs per 1,000 patients screened versus systematic and opportunistic strategies. The targeted screening strategy remained cost-effective in all scenarios evaluated.Limitations: The analysis relied on assumptions that include the extended period of patient life span and the lack of consideration for treatment discontinuations/switching, as well as the assumption that the ML risk-prediction algorithm will identify asymptomatic AF.Conclusions: Targeted screening using a ML risk prediction algorithm has the potential to enhance the clinical and cost-effectiveness of AF screening, improving health outcomes through efficient use of limited healthcare resources.

Diagnosed and Undiagnosed Diabetes among Agricultural Workers in California.

Latino agricultural workers in California are a vulnerable population at risk for many undiagnosed health concerns. Principal among them is diabetes, and the prevalence of diagnosed and undiagnosed diabetes is difficult to estimate. In a convenience sample of 579 agricultural workers recruited through the California Heat Illness Prevention Study (CHIPS), we found HbA1c levels consistent with diabetes in 54 participants, of whom 33 (61.1%) were aware of their status. We found HbA1c levels consistent with pre-diabetes in 59 participants, of whom none was aware. Results indicate a health disparity between agricultural workers and other populations in the U.S. Many are unaware of having a chronic illness and lack resources or have other barriers to manage it. Nurses, midlevel providers, and health fairs are often the first or only point of health care contact for agricultural workers and can provide valuable information, screening, and support for this vulnerable population.

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.

BACKGROUND: Despite growing evidence of diagnostic yield and clinical utility of whole exome sequencing (WES) in patients with undiagnosed diseases, there remain significant cost and reimbursement barriers limiting access to such testing. The diagnostic yield and resulting clinical actions of WES for patients who previously faced insurance coverage barriers have not yet been explored. METHODS: We performed a retrospective descriptive analysis of clinical WES outcomes for patients facing insurance coverage barriers prior to clinical WES and who subsequently enrolled in the Undiagnosed Diseases Network (UDN). Clinical WES was completed as a result of participation in the UDN. Payer type, molecular diagnostic yield, and resulting clinical actions were evaluated. RESULTS: Sixty-six patients in the UDN faced insurance coverage barriers to WES at the time of enrollment (67% public payer, 26% private payer). Forty-two of 66 (64%) received insurance denial for clinician-ordered WES, 19/66 (29%) had health insurance through a payer known not to cover WES, and 5/66 (8%) had previous payer denial of other genetic tests. Clinical WES results yielded a molecular diagnosis in 23 of 66 patients (35% [78% pediatric, 65% neurologic indication]). Molecular diagnosis resulted in clinical actions in 14 of 23 patients (61%). CONCLUSIONS: These data demonstrate that a substantial proportion of patients who encountered insurance coverage barriers to WES had a clinically actionable molecular diagnosis, supporting the notion that WES has value as a covered benefit for patients who remain undiagnosed despite objective clinical findings.

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.

While genomic sequencing (ES/GS) has the potential to diagnose children with difficult to diagnose phenotypes, the goal should be not only a diagnosis, but also to empower parents to seek next steps for their children and to emotionally manage the outcome, whether or not a diagnosis is secured. To help achieve this goal, objective measures are needed to assess the process of parental empowerment related to genome sequencing. We present the validity and reliability of the Genome Empowerment Scale (GEmS), developed using a healthcare empowerment theoretical model. To evaluate its psychometric properties, 158 parents of 117 children with an undiagnosed condition undergoing genomic sequencing completed the GEmS, measures for criterion validity and for depression and anxiety. Factor analysis resulted in a four factor solution: (a) meaning of a diagnosis; (b) emotional management of the process; (c) seeking information and support and (d) implications and planning. Reliability and validity analyses show that the GEmS has good psychometric properties. The inter-relationships among the factors revealed a profile that may identify parents at risk for a poorer outcome who may benefit from targeted genetic counseling. The GEmS, an objective measure of parental genomic empowerment, can be utilized for future research and translational applications.

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.

Whole-genome sequencing (WGS) holds great potential as a diagnostic test. However, the majority of patients currently undergoing WGS lack a molecular diagnosis, largely due to the vast number of undiscovered disease genes and our inability to assess the pathogenicity of most genomic variants. The CAGI SickKids challenges attempted to address this knowledge gap by assessing state-of-the-art methods for clinical phenotype prediction from genomes. CAGI4 and CAGI5 participants were provided with WGS data and clinical descriptions of 25 and 24 undiagnosed patients from the SickKids Genome Clinic Project, respectively. Predictors were asked to identify primary and secondary causal variants. In addition, for CAGI5, groups had to match each genome to one of three disorder categories (neurologic, ophthalmologic, and connective), and separately to each patient. The performance of matching genomes to categories was no better than random but two groups performed significantly better than chance in matching genomes to patients. Two of the ten variants proposed by two groups in CAGI4 were deemed to be diagnostic, and several proposed pathogenic variants in CAGI5 are good candidates for phenotype expansion. We discuss implications for improving in silico assessment of genomic variants and identifying new disease genes.

Hidden Burden of Electronic Health Record-Identified Familial Hypercholesterolemia: Clinical Outcomes and Cost of Medical Care.

Background Familial hypercholesterolemia ( FH ), is a historically underdiagnosed, undertreated, high-risk condition that is associated with a high burden of cardiovascular morbidity and mortality. In this study, we use a population-based approach using electronic health record ( EHR )-based algorithms to identify FH . We report the major adverse cardiovascular events, mortality, and cost of medical care associated with this diagnosis. Methods and Results In our 1.18 million EHR- eligible cohort, International Classification of Diseases, Ninth Revision ( ICD -9) code-defined hyperlipidemia was categorized into FH and non- FH groups using an EHR algorithm designed using the modified Dutch Lipid Clinic Network criteria. Major adverse cardiovascular events, mortality, and cost of medical care were analyzed. A priori associated variables/confounders were used for multivariate analyses using binary logistic regression and linear regression with propensity score-based weighted methods as appropriate. EHR FH was identified in 32 613 individuals, which was 2.7% of the 1.18 million EHR cohort and 13.7% of 237 903 patients with hyperlipidemia. FH had higher rates of myocardial infarction (14.77% versus 8.33%; P<0.0001), heart failure (11.82% versus 10.50%; P<0.0001), and, after adjusting for traditional risk factors, significantly correlated to a composite major adverse cardiovascular events variable (odds ratio, 4.02; 95% CI, 3.88-4.16; P<0.0001), mortality (odds ratio, 1.20; CI, 1.15-1.26; P<0.0001), and higher total revenue per-year (incidence rate ratio, 1.30; 95% CI, 1.28-1.33; P<0.0001). Conclusions EHR -based algorithms discovered a disproportionately high prevalence of FH in our medical cohort, which was associated with worse outcomes and higher costs of medical care. This data-driven approach allows for a more precise method to identify traditionally high-risk groups within large populations allowing for targeted prevention and therapeutic strategies.

A Population Dynamic Model to Assess the Diabetes Screening and Reporting Programs and Project the Burden of Undiagnosed Diabetes in Thailand.

Diabetes mellitus (DM) is rising worldwide, exacerbated by aging populations. We estimated and predicted the diabetes burden and mortality due to undiagnosed diabetes together with screening program efficacy and reporting completeness in Thailand, in the context of demographic changes. An age and sex structured dynamic model including demographic and diagnostic processes was constructed. The model was validated using a Bayesian Markov Chain Monte Carlo (MCMC) approach. The prevalence of DM was predicted to increase from 6.5% (95% credible interval: 6.3-6.7%) in 2015 to 10.69% (10.4-11.0%) in 2035, with the largest increase (72%) among 60 years or older. Out of the total DM cases in 2015, the percentage of undiagnosed DM cases was 18.2% (17.4-18.9%), with males higher than females (p-value < 0.01). The highest group with undiagnosed DM was those aged less than 39 years old, 74.2% (73.7-74.7%). The mortality of undiagnosed DM was ten-fold greater than the mortality of those with diagnosed DM. The estimated coverage of diabetes positive screening programs was ten-fold greater for elderly compared to young. The positive screening rate among females was estimated to be significantly higher than those in males. Of the diagnoses, 87.4% (87.0-87.8%) were reported. Targeting screening programs and good reporting systems will be essential to reduce the burden of disease.