The Evaluation of a Clinical Decision Support Tool Using Natural Language Processing to Screen Hospitalized Adults for Unhealthy Substance Use: Protocol for a Quasi-Experimental Design.

BACKGROUND: Automated and data-driven methods for screening using natural language processing (NLP) and machine learning may replace resource-intensive manual approaches in the usual care of patients hospitalized with conditions related to unhealthy substance use. The rigorous evaluation of tools that use artificial intelligence (AI) is necessary to demonstrate effectiveness before system-wide implementation. An NLP tool to use routinely collected data in the electronic health record was previously validated for diagnostic accuracy in a retrospective study for screening unhealthy substance use. Our next step is a noninferiority design incorporated into a research protocol for clinical implementation with prospective evaluation of clinical effectiveness in a large health system. OBJECTIVE: This study aims to provide a study protocol to evaluate health outcomes and the costs and benefits of an AI-driven automated screener compared to manual human screening for unhealthy substance use. METHODS: A pre-post design is proposed to evaluate 12 months of manual screening followed by 12 months of automated screening across surgical and medical wards at a single medical center. The preintervention period consists of usual care with manual screening by nurses and social workers and referrals to a multidisciplinary Substance Use Intervention Team (SUIT). Facilitated by a NLP pipeline in the postintervention period, clinical notes from the first 24 hours of hospitalization will be processed and scored by a machine learning model, and the SUIT will be similarly alerted to patients who flagged positive for substance misuse. Flowsheets within the electronic health record have been updated to capture rates of interventions for the primary outcome (brief intervention/motivational interviewing, medication-assisted treatment, naloxone dispensing, and referral to outpatient care). Effectiveness in terms of patient outcomes will be determined by noninferior rates of interventions (primary outcome), as well as rates of readmission within 6 months, average time to consult, and discharge rates against medical advice (secondary outcomes) in the postintervention period by a SUIT compared to the preintervention period. A separate analysis will be performed to assess the costs and benefits to the health system by using automated screening. Changes from the pre- to postintervention period will be assessed in covariate-adjusted generalized linear mixed-effects models. RESULTS: The study will begin in September 2022. Monthly data monitoring and Data Safety Monitoring Board reporting are scheduled every 6 months throughout the study period. We anticipate reporting final results by June 2025. CONCLUSIONS: The use of augmented intelligence for clinical decision support is growing with an increasing number of AI tools. We provide a research protocol for prospective evaluation of an automated NLP system for screening unhealthy substance use using a noninferiority design to demonstrate comprehensive screening that may be as effective as manual screening but less costly via automated solutions. TRIAL REGISTRATION: ClinicalTrials.gov NCT03833804; https://clinicaltrials.gov/ct2/show/NCT03833804. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/42971.

Genetic and stress influences on the prevalence of hypertension among hispanics/latinos in the hispanic community health study/study of latinos (HCHS/SOL).

PURPOSE: The current study examined the effects of chronic stress and a genetic risk score on the presence of hypertension and elevated systolic blood pressure and diastolic blood pressure among Hispanics/Latinos in the target population of Hispanic Community Health Study/Study of Latinos. MATERIALS AND METHODS: Of the participants (N = 11,623) assessed during two clinic visits (Visit 1 2008-2013 & Visit 2 2014-2018), we analysed data from 7,429 adults (50.4% female), aged 18-74, who were genotyped and responded to chronic stress questionnaires. We calculated an unweighted genetic risk score using blood pressure increasing single nucleotide polymorphisms (SNPs) found to be generalisable to Hispanics/Latinos (10 SNPs). Linear and logistic regression models were used to estimate associations between chronic stress and genetic risk score and their interaction, with prevalent Visit 2 SBP or DBP, and hypertension, respectively. Models accounted for sampling weights, stratification, and cluster design. RESULTS: Chronic stress (adjusted OR = 1.18, 95%CI:1.15,1.22) and hypertension genetic risk score (adjusted OR = 1.04, 95%CI:1.01,1.07) were significantly associated with prevalent hypertension, but there was no significant interaction between the chronic stress and genetic risk score on hypertension (p = .49). genetic risk score (b = .32, 95%CI:.08, .55, R2 = .02) and chronic stress (b = .45, 95%CI:.19, .72, R2 = .11) were related to DBP, with no significant interaction (p = .62). Genetic risk score (b = .42, 95%CI:.08, .76, R2 = .01) and chronic stress (b = .80, 95%CI:.34,1.26, R2 = .11) were also related to SBP, with no significant interaction (p = .51). CONCLUSION: Results demonstrate the utility of a genetic risk score for blood pressure and are consistent with literature suggesting chronic stress has a strong, direct association with elevated blood pressure among U.S. Hispanics/Latinos.

Genome-wide pleiotropy analysis identifies novel blood pressure variants and improves its polygenic risk scores.

Systolic and diastolic blood pressure (S/DBP) are highly correlated modifiable risk factors for cardiovascular disease (CVD). We report here a bidirectional Mendelian Randomization (MR) and horizontal pleiotropy analysis of S/DBP summary statistics from the UK Biobank (UKB)-International Consortium for Blood Pressure (ICBP) (UKB-ICBP) BP genome-wide association study and construct a composite genetic risk score (GRS) by including pleiotropic variants. The composite GRS captures greater (1.11-3.26 fold) heritability for BP traits and increases (1.09- and 2.01-fold) Nagelkerke's R2 for hypertension and CVD. We replicated 118 novel BP horizontal pleiotropic variants including 18 novel BP loci using summary statistics from the Million Veteran Program (MVP) study. An additional 219 novel BP signals and 40 novel loci were identified after a meta-analysis of the UKB-ICBP and MVP summary statistics but without further independent replication. Our study provides further insight into BP regulation and provides a novel way to construct a GRS by including pleiotropic variants for other complex diseases.

Use of Racial and Ethnic Categories in Medical Testing and Diagnosis: Primum Non Nocere.

BACKGROUND: Use of race and ethnicity is common in medical tests and procedures, even though these categories are defined by sociological, historical, and political processes, and vary considerably in their definitions over time and place. Because all societies organize themselves around these constructs in some way, they are undeniable facets of the human experience, with myriad health consequences. In the biomedical literature, they are also commonly interpreted as representing biological heterogeneity that is relevant for health and disease. CONTENT: We review the use of race and ethnicity in medical practice, especially in the USA, and provide 2 specific examples to represent a large number of similar instances. We then critique these uses along a number of different dimensions, including limitations in measurement, within- versus between-group variance, and implications for informativeness of risk markers for individuals, generalization from arbitrary or nonrepresentative samples, perpetuation of myths and stereotypes, instability in time and place, crowding out of more relevant risk markers, stigmatization, and the tainting of medicine with the history of oppression. We conclude with recommendations to improve practice that are technical, ethical, and pragmatic. SUMMARY: Medicine has evolved from a mystical healing art to a mature science of human health through a rigorous process of quantification, experimentation, and evaluation. Folkloric traditions, such as race- and ethnic-specific medicine will fade from use as we become increasingly critical of outdated and irrational clinical practices and replace these with personalized, evidenced-based tests, algorithms, and procedures that privilege patients' individual humanity over obsolete and misleading labels.

Cardiovascular disease and risk of incident diabetes mellitus: Findings from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL).

BACKGROUND: Studies have reported an association between prevalent cardiovascular disease (CVD) and risk of diabetes mellitus (DM). However, factors that may explain the association remain unclear. We examined the association of prevalent CVD with incident DM and assessed whether weight gain and medication use may explain the association. METHODS: Data from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) Visit 1 (2008-2011) and Visit 2 (2014-2017) were used to compare incidence of DM among individuals with and without self-reported CVD at Visit 1. A total of 1899 individuals with self-reported CVD were matched to controls free of self-reported CVD at Visit 1 using 1:1 propensity score matching. Covariates included in the propensity model were sociodemographic characteristics, lifestyle factors, comorbid conditions, and study site. The effect of self-reported CVD on incident DM was examined using a generalized estimating equation. The mediating effects of weight gain and use of cardiovascular medications were evaluated. RESULTS: Covariate distributions were similar among individuals with and without self-reported CVD. The incidence of DM among persons with self-reported CVD was 15.3% vs 12.7% among those without self-reported CVD. Compared to individuals without self-reported CVD, individuals with self-reported CVD had a 24% increased risk for incident DM (odds ratio = 1.24, 95% confidence interval = 1.01, 1.51). The association between self-reported CVD and DM was mediated by the use of beta-blockers (proportion explained = 25.4%), statins (proportion explained = 18%), and diuretics (proportion explained = 8%). We found that weight gain did not explain the observed association. CONCLUSIONS: Prevalent cardiovascular disease was associated with a significant increased risk of incident diabetes. The observed association was partially explained by some medications used to manage CVD.

Self-reported health without clinically measurable benefits among adult users of multivitamin and multimineral supplements: a cross-sectional study.

OBJECTIVE: Multiple clinical trials fail to identify clinically measurable health benefits of daily multivitamin and multimineral (MVM) consumption in the general adult population. Understanding the determinants of widespread use of MVMs may guide efforts to better educate the public about effective nutritional practices. The objective of this study was to compare self-reported and clinically measurable health outcomes among MVM users and non-users in a large, nationally representative adult civilian non-institutionalised population in the USA surveyed on the use of complementary health practices. DESIGN: Cross-sectional analysis of the effect of MVM consumption on self-reported overall health and clinically measurable health outcomes. PARTICIPANTS: Adult MVM users and non-users from the 2012 National Health Interview Survey (n=21 603). PRIMARY AND SECONDARY OUTCOME MEASURES: Five psychological, physical, and functional health outcomes: (1) self-rated health status, (2) needing help with routine needs, (3) history of 10 chronic diseases, (4) presence of 19 health conditions in the past 12 months, and (5) Kessler 6-Item (K6) Psychological Distress Scale to measure non-specific psychological distress in the past month. RESULTS: Among 4933 adult MVM users and 16 670 adult non-users, MVM users self-reported 30% better overall health than non-users (adjusted OR 1.31; 95% CI 1.17 to 1.46; false discovery rate adjusted p<0.001). There were no differences between MVM users and non-users in history of 10 chronic diseases, number of present health conditions, severity of current psychological distress on the K6 Scale and rates of needing help with daily activities. No effect modification was observed after stratification by sex, education, and race. CONCLUSIONS: MVM users self-reported better overall health despite no apparent differences in clinically measurable health outcomes. These results suggest that widespread use of multivitamins in adults may be a result of individuals' positive expectation that multivitamin use leads to better health outcomes or a self-selection bias in which MVM users intrinsically harbour more positive views regarding their health.

Detecting fitness epistasis in recently admixed populations with genome-wide data.

BACKGROUND: Fitness epistasis, the interaction effect of genes at different loci on fitness, makes an important contribution to adaptive evolution. Although fitness interaction evidence has been observed in model organisms, it is more difficult to detect and remains poorly understood in human populations as a result of limited statistical power and experimental constraints. Fitness epistasis is inferred from non-independence between unlinked loci. We previously observed ancestral block correlation between chromosomes 4 and 6 in African Americans. The same approach fails when examining ancestral blocks on the same chromosome due to the strong confounding effect observed in a recently admixed population. RESULTS: We developed a novel approach to eliminate the bias caused by admixture linkage disequilibrium when searching for fitness epistasis on the same chromosome. We applied this approach in 16,252 unrelated African Americans and identified significant ancestral correlations in two pairs of genomic regions (P-value< 8.11 × 10- 7) on chromosomes 1 and 10. The ancestral correlations were not explained by population admixture. Historical African-European crossover events are reduced between pairs of epistatic regions. We observed multiple pairs of co-expressed genes shared by the two regions on each chromosome, including ADAR being co-expressed with IFI44 in almost all tissues and DARC being co-expressed with VCAM1, S1PR1 and ELTD1 in multiple tissues in the Genotype-Tissue Expression (GTEx) data. Moreover, the co-expressed gene pairs are associated with the same diseases/traits in the GWAS Catalog, such as white blood cell count, blood pressure, lung function, inflammatory bowel disease and educational attainment. CONCLUSIONS: Our analyses revealed two instances of fitness epistasis on chromosomes 1 and 10, and the findings suggest a potential approach to improving our understanding of adaptive evolution.

Trends and Racial Disparities of Palliative Care Use among Hospitalized Patients with ESKD on Dialysis.

BACKGROUND: Study findings show that although palliative care decreases symptom burden, it is still underused in patients with ESKD. Little is known about disparity in use of palliative care services in such patients in the inpatient setting. METHODS: To investigate the use of palliative care consultation in patients with ESKD in the inpatient setting, we conducted a retrospective cohort study using the National Inpatient Sample from 2006 to 2014 to identify admitted patients with ESKD requiring maintenance dialysis. We compared palliative care use among minority groups (black, Hispanic, and Asian) and white patients, adjusting for patient and hospital variables. RESULTS: We identified 5,230,865 hospitalizations of such patients from 2006 through 2014, of which 76,659 (1.5%) involved palliative care. The palliative care referral rate increased significantly, from 0.24% in 2006 to 2.70% in 2014 (P<0.01). Black and Hispanic patients were significantly less likely than white patients to receive palliative care services (adjusted odds ratio [aOR], 0.72; 95% confidence interval [95% CI], 0.61 to 0.84, P<0.01 for blacks and aOR, 0.46; 95% CI, 0.30 to 0.68, P<0.01 for Hispanics). These disparities spanned across all hospital subtypes, including those with higher proportions of minorities. Minority patients with lower socioeconomic status (lower level of income and nonprivate health insurance) were also less likely to receive palliative care. CONCLUSIONS: Despite a clear increase during the study period in provision of palliative care for inpatients with ESKD, significant racial disparities occurred and persisted across all hospital subtypes. Further investigation into causes of racial and ethnic disparities is necessary to improve access to palliative care services for the vulnerable ESKD population.

The Association between Cardiovascular Disease Risk Factors and 25-Hydroxivitamin D and Related Analytes among Hispanic/Latino Adults: A Pilot Study.

Although the association of vitamin D levels with cardiovascular risk profiles among Hispanics/Latinos has been studied, little is known about this association among Hispanics/Latinos with chronic conditions. This pilot study determined serum vitamin D and parathyroid hormone (PTH) levels in a sample of participants from the University of Illinois at the Chicago Cohort of Patients, Family and Friends (UIC Cohort) and examined their association with traditional cardiovascular disease risk factors. From July 2012 to June 2016, the UIC Cohort study enrolled and conducted clinical examinations on men and women ages 18 years and older, who had one or more diagnosed chronic diseases/conditions (excluding cancer). This pilot study sample included 40 participants from the six main Hispanic/Latino background groups in the United States, namely Dominican, Cuban, Puerto Rican, Mexican, Central American, and South American, and were grouped by Caribbean or mainland origin. No substantial differences were noted in the vitamin D-related measures by Hispanic/Latino background, but the PTH levels were somewhat higher in the Caribbean vs. mainland group (43.0 ± 4.6 vs. 38.6 ± 2.7 pg/mL). The associations between selected CVD risk factors (systolic and diastolic blood pressure (SBP, DBP), total cholesterol, glucose) and PTH and vitamin D-related analytes were investigated using interval-censored multivariate regression models adjusted for age, sex, percent body fat, serum albumin/calcium, and Hispanic/Latino background. A negative association between total 25[OH]D and blood pressure was corroborated (SBP: ß = -1.2, 95%CI = -2.0, -0.3; DBP: ß = -0.7, 95% CI = -1.2, -0.1), whereas a positive association with total cholesterol was observed (ß = 1.9, 95% CI = 0.02, 3.7). Levels of 1, 25[OH]2D were not associated with CVD risk factors, whereas 24, 25[OH]2D3 was associated with blood pressure (SBP: ß = -13.0, 95% CI = -20.7, -5.2; DBP: ß = -6.3, 95% CI = -11.6, -1.0). Estimated free 25[OH]D was inversely associated with both SBP (ß = -3.5, 95% CI = -6.1, -0.9) and DBP (ß = -2.1, 95% CI = -3.8, -0.3). Similarly, calculated bioavailable 25[OH]D was inversely associated with both SBP (ß = -9.2, 95% CI = -15.9, -2.4) and DBP(ß = -5.3, 95% CI = -9.8, -0.8). In conclusion, a negative association between 25[OH]D with BP was observed and a positive association with lipids is suggested. Due to the small sample size, most associations did not reach statistical significance.

American Ancestry Is a Risk Factor for Suspected Nonalcoholic Fatty Liver Disease in Hispanic/Latino Adults.

BACKGROUND & AIMS: Nonalcoholic fatty liver disease (NAFLD) disproportionally affects Hispanic/Latino populations. However, the magnitude varies among Hispanic/Latino ethnic groups. We investigated the mechanisms of these disparities. METHODS: We examined associations of NAFLD-associated genetic variants and continental ancestry with suspected NAFLD, levels of alanine aminotransferase (ALT), and liver fibrosis using data from the Hispanic Community Health Study/Study of Latinos-a population-based study of Hispanic/Latino adults in the United States. We evaluated data from 16,415 Hispanic/Latino adults in 4 cities from 2008 through 2011. Subjects suspected of having NAFLD or liver fibrosis were identified based on unexplained increases in levels of aminotransferases and FIB-4 score, respectively. RESULTS: Among the 9342 participants with available genetic and aminotransferase data, the PNPLA3 G allele (odds ratio [OR], 1.53; 95% CI, 1.41-1.66), TM6SF2 T allele (OR, 1.41; 95% CI, 1.20-1.67), and PPP1R3B G allele (OR, 1.16; 95% CI, 1.06-1.28) were associated with suspected NAFLD. PNPLA3 G was also associated with increased levels of ALT, except in participants with Dominican and South American backgrounds, and with liver fibrosis. The frequency of PNPLA3 G was high (41%) and TM6SF2 T (5%) was low in Hispanic/Latinos. PNPLA3 G frequency differed among Hispanic background groups with the highest proportion in Mexicans (52%) and the lowest proportion in Dominicans (23%). After adjustment for demographic, clinical, and behavioral factors, as well as PNPLA3 G, TM6SF2 T, and PPP1R3B G, American ancestry had a positive association with level of ALT (r = 6.61%; P < .001), whereas African (r = -3.84%; P < .001) and European (r = -4.31%; P < .001) ancestry were inversely associated with level of ALT. CONCLUSIONS: American ancestry and PNPLA3 G are independent predictors of ALT levels in US Hispanic/Latinos and may in part explain NAFLD disparities in US Hispanic/Latinos.

Potential Cardiovascular Disease Events Prevented with Adoption of the 2017 American College of Cardiology/American Heart Association Blood Pressure Guideline.

BACKGROUND: Over 10 years, achieving and maintaining 2017 ACC/AHA guideline goals could prevent 3.0 million (UR, 1.1-5.1 million), 0.5 million (UR, 0.2-0.7 million), and 1.4 million (UR, 0.6-2.0 million) cardiovascular disease (CVD) events compared with maintaining current blood pressure (BP) levels, achieving 2003 Seventh Joint National Committee Report goals, and achieving 2014 Eighth Joint National Committee goals, respectively. We estimated the number of cardiovascular disease events prevented and treatment-related serious adverse events incurred over 10 years among US adults with hypertension by achieving 2017 ACC/AHA guideline-recommended BP goals compared with (1) current BP levels, (2) achieving 2003 Seventh Joint National Committee Report BP goals, and (3) achieving 2014 Eighth Joint National Committee panel member report BP goals. METHODS: US adults aged ≥45 years with an indication for BP treatment were grouped according to recommendations for antihypertensive drug therapy in the 2017 ACC/AHA guideline, 2003 Seventh Joint National Committee Report, and 2014 Eighth Joint National Committee. Population sizes were estimated from the 2011 to 2014 National Health and Nutrition Examination Surveys. Rates for fatal and nonfatal CVD events (stroke, coronary heart disease, or heart failure) were estimated from the REGARDS (REasons for Geographic And Racial Differences in Stroke) study, weighted to the US population. CVD risk reductions with treatment to BP goals and risk for serious adverse events were obtained from meta-analyses of BP-lowering trials. CVD events prevented and treatment-related nonfatal serious adverse events over 10 years were calculated. Uncertainty surrounding main data inputs was expressed in uncertainty ranges (UR). RESULTS: Over ten years, achieving and maintaining 2017 ACC/AHA guideline goals compared with current BP levels, achieving 2003 Seventh Joint National Committee Report goals, or achieving 2014 Eighth Joint National Committee goals could prevent 3.0 million (UR, 1.1-5.1 million), 0.5 million (UR, 0.2-0.7 million), or 1.4 million (UR, 0.6-2.0 million) CVD events, respectively. Compared with current BP levels, achieving and maintaining 2017 goals could prevent 71.9 (UR, 26.6-122.3) CVD events per 1000 treated. Achieving 2017 guideline BP goals compared with current BP levels could also lead to nearly 3.3 million more serious adverse events over 10 years (UR, 2.2-4.4 million). CONCLUSIONS: Achieving and maintaining 2017 ACC/AHA BP goals could prevent a greater number of CVD events than achieving 2003 Seventh Joint National Committee Report or 2014 Eighth Joint National Committee BP goals but could also lead to more serious adverse events.

Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31.

High blood pressure (BP) is a major risk factor for cardiovascular disease (CVD) and is more prevalent in African Americans as compared to other US groups. Although large, population-based genome-wide association studies (GWAS) have identified over 300 common polymorphisms modulating inter-individual BP variation, largely in European ancestry subjects, most of them do not localize to regions previously identified through family-based linkage studies. This discrepancy has remained unexplained despite the statistical power differences between current GWAS and prior linkage studies. To address this issue, we performed genome-wide linkage analysis of BP traits in African-American families from the Family Blood Pressure Program (FBPP) and genotyped on the Illumina Human Exome BeadChip v1.1. We identified a genomic region on chromosome 1q31 with LOD score 3.8 for pulse pressure (PP), a region we previously implicated in DBP studies of European ancestry families. Although no reported GWAS variants map to this region, combined linkage and association analysis of PP identified 81 rare and low frequency exonic variants accounting for the linkage evidence. Replication analysis in eight independent African ancestry cohorts (N = 16,968) supports this specific association with PP (P = 0.0509). Additional association and network analyses identified multiple potential candidate genes in this region expressed in multiple tissues and with a strong biological support for a role in BP. In conclusion, multiple genes and rare variants on 1q31 contribute to PP variation. Beyond producing new insights into PP, we demonstrate how family-based linkage and association studies can implicate specific rare and low frequency variants for complex traits.

The Association Between Tea Consumption and Hyperhomocysteine in Chinese Hypertensive Patients.

BACKGROUND: There is no consistent evidence for the relationship between tea-drinking and hyperhomocysteine (hHcy). Because tea-drinking habit and hHcy have prevailed in Chinese hypertensive patients, this study aimed to investigate the association between hHcy and tea consumption in patients with hypertension. METHODS: A total of 335 hypertensive participants were recruited from 7 communities. Demographic characteristics of participants were collected through face-to-face interviews using a standard questionnaire, whereas laboratory data were obtained within 1 week after patient recruitment. Multiple logistic regression analysis was performed to examine the association between tea consumption and hHcy in hypertensive patients. RESULTS: Of the 335 patients, 245 had a tea-drinking habit, and 252 of them were detected with hHcy. A significant association was found between tea consumption and hHcy in hypertensive patients (adjusted odds ratio [OR] = 1.84, 95% confidence interval [CI] = 1.01-3.36, P = 0.048). Subgroup analyses showed that black tea drinking group (adjusted OR = 8.81, 95% CI = 2.74-28.33, P < 0.001) was significantly associated with the risk of hHcy, but not oolong and green tea drinking groups (P > 0.05). Furthermore, consuming a small amount (≤1 cup per day) of green tea was negatively associated with hHcy (adjusted OR = 0.19, 95% CI = 0.07-0.51, P = 0.001), whereas a large intake (>3 cups per day) of green tea was associated with high odds of hHcy (adjusted OR = 5.00, 95% CI = 1.33-18.79, P = 0.02). CONCLUSIONS: These data suggest a hypothesis that selecting green tea or limiting tea consumption might reduce risk of hHcy in hypertensive patients and that warrants further study.

White Paper: Pathways to Progress in Newborn Screening for Sickle Cell Disease in Sub-Saharan Africa.

Sickle Cell Disease (SCD) is among the most common single-gene diseases in the world but evidence-based comprehensive health care has not been implemented where the highest prevalence of SCD occurs, in sub-Saharan Africa (SSA). It represents an urgent health burden, both in terms of mortality and morbidity with an estimated mortality of 8-16% in children under 5 years in SSA. Addressing the high mortality of SCD in SSA and for effective management of SCD, newborn screening (NBS) should be incorporated with prevention of infections (including pneumococcal septicaemia and malaria), parental education and support at all levels of healthcare provision to enable timely recognition. The NBS working group of the Africa Sickle Cell Research Network (AfroSickleNet) collaboration surveyed current projects in NBS in SSA, and current conditions that hinder more widespread implementation of NBS for SCD. Solutions based on new point-of-care testing technology to disseminate education, and implementation science approaches that leverage existing resources are proposed.

Sickle Cell Disease Clinical Trials and Phenotypes.

Sickle cell disease, one of the world's most common genetic disorders is prevalent in sub-Saharan Africa. The trans-Atlantic slave trade accounted for the gene movement from Africa to the Caribbean and United States of America and lately, migration has resulted in the introduction of the gene to the United Kingdom and other parts of Europe. Different haplotypes exist, however the differences in these haplotypes are not sufficient to explain the different clinical variations within the same region or different settings.