Health Economics Research Research Articles

The economics of moonshots: Value in rare disease drug development.

The economics of moonshots: Value in rare disease drug development.

Development and content validation of a self-completed, electronic Pediatric Asthma Symptom Diary

BackgroundChildhood asthma is an important unmet need. To date, patient-reported outcome measures (PROMs) for children with asthma have used a combination of caregiver or proxy-reported and self-reported measures. No comprehensive measure is available to assess the severity and impact of daytime and nighttime asthma symptoms and rescue medication use for self-completion by children aged 6–11 years. This study aimed to develop a novel, interactive, electronic Pediatric Asthma Symptom Diary (ePASD) measuring self-reported key symptom severity and proximal impacts of asthma in young children with varying reading ability and disease severity, consistent with US Food and Drug Administration (FDA) PRO guidance and the International Society for Health Economics and Outcomes Research (ISPOR) good research practices.MethodsA targeted literature review and clinician interviews were undertaken to characterize symptoms and impacts experienced by children with mild-to-severe asthma. Concept elicitation interviews (CEIs) were conducted with 44 children and their caregivers (30 US; 14 UK). Following item and digital application development, the ePASD was assessed for relevance, understanding, and interpretability through cognitive debriefing interviews (CDIs) with 21 US children. Face validity/translatability assessments were also performed.ResultsKey measurement concepts included cough, wheeze, difficulty breathing, chest tightness/discomfort, nighttime awakening, and daytime activity limitations. Concept saturation was reached during CEIs for primary asthma-related daytime and nighttime symptoms and core impacts. Most CDI participants found the ePASD items clear, understandable, and comprehensive. Standardized training is anticipated to facilitate reliable child self-report.ConclusionThe ePASD, a novel PROM for children aged 6–11 years with asthma, uses an innovative multimedia approach and has been developed in accordance with FDA PRO guidance and ISPOR good research practices, directly capturing the child’s self-reported asthma symptoms, impacts on daily activities and nighttime awakening, and rescue medication use.

Feasibility of Deriving Health State Utilities in Mycosis Fungoides Cutaneous T-Cell Lymphoma Using Mapping Algorithms.

BackgroundA prospective, observational, US-based study (PROVe) used three questionnaires (Pruritus-VAS, Skindex-29, MF/SS-CTCL QoL) to assess quality of life in patients diagnosed with mycosis fungoides cutaneous T-cell lymphoma (MF-CTCL); however, none of these studies was provided with a preference-based algorithm yielding health state utility values (HSUVs).ObjectiveThis study aimed to assess the feasibility of deriving HSUVs from published mapping algorithms by comparing mapped utilities with the HSUVs reported in the MF-CTCL literature.MethodsWe searched PubMed, the School of Health and Related Research Health Utility Database (ScHARRHUD), and the Health Economics Research Centre (HERC) database of mapping studies (version 7.0) to identify any studies mapping Pruritus-VAS, Skindex-29, or MF/SS-CTCL QoL to a preference-based instrument (ideally, EQ-5D), and any studies assessing HSUVs in MF-CTCL. Two algorithms from a recent study that mapped Pruritus-VAS onto EQ-5D-3L were applied to the PROVe patient-level data. We performed multiple imputation to handle missing VAS data, calculated average mapped utilities in the whole sample, and compared them with relevant factors using the t-test and one-way analysis of variance (ANOVA).ResultsOverall, 298 patients provided 1441 Pruritus-VAS scores over a 2-year follow-up (1–21 visits per patient). The average mapped HSUVs ranged between 0.950 and 0.999 depending on the algorithm applied and imputation of missing data. In subgroup analysis, significant differences (p < 0.05) were observed according to age, race, and cancer stage. A few previous studies that collected HSUVs from MF-CTCL patients reported mean values of between 0.82 and 0.87 using time trade-off, 0.63 and 0.83 using EQ-5D, and 0.51 and 0.69 using the HUI3.ConclusionsThe HSUVs derived by applying published mapping algorithms to PROVe Pruritus-VAS data appeared largely overestimated if compared with the existing literature. More research is required to understand the applicability of existing mapping algorithms and to develop new mapping algorithms in MF-CTCL.Supplementary InformationThe online version contains supplementary material available at 10.1007/s41669-022-00326-6.

Cardiorenal disease in the United States: Future health care burden and potential impact of novel therapies.

BACKGROUND: Currently, concerted efforts to identify, prevent, and treat type 2 diabetes mellitus (T2DM), heart failure (HF), and chronic kidney disease (CKD) comorbidities are lacking at the institutional level, with emphasis placed on individual specialties. An integrated approach to tackle T2DM, HF, and CKD within the context of cardiorenal disease has the potential to improve outcomes and reduce costs at the system level. OBJECTIVE: To synthesize published evidence describing the burden of those diagnosed with T2DM, HF, and CKD in the United States as individual discrete chronic conditions, in order to evaluate the potential economic impact of novel therapies in this population. METHODS: We developed a compartmental Markov model with an annual time cycle to model an evolving prevalent US patient population with T2DM, HF, or CKD over the period 2021-2030 (either in isolation or combined). The model was used to explore the potential impact of novel therapies such as sodium-glucose cotransporter 2 inhibitors on future disease burden, by extrapolating the results of relevant clinical trials to representative patient populations. RESULTS: The model estimates that total prevalence across all disease states will have increased by 28% in 2030. Cumulatively, the direct health care cost of cardiorenal disease between 2021 and 2030 is estimated at $4.8 trillion. However, treatment with dapagliflozin has the potential to reduce disease prevalence by 8.0% and estimated cumulative service delivery costs by 3.6% by 2030. CONCLUSIONS: Considering a holistic approach when managing patients with cardiorenal disease offers an opportunity to reduce the disease burden over the next 10 years in the US population. DISCLOSURES: This work was funded by AstraZeneca, which provided support for data analysis. McEwan, Morgan, and Boyce are employees of Health Economics and Outcomes Research Ltd., Cardiff, UK, which received fees from AstraZeneca in relation to this study. Song and Huang are employees of AstraZeneca. Bergenheim is an employee of AstraZeneca and holds AstraZeneca stocks/stock options. Green has no conflicts of interest to declare.

The Current Situation and Challenges in Health Economics Research

The Current Situation and Challenges in Health Economics Research

The Health Economic Impact of Musculoskeletal Physiotherapy Delivered by Telehealth: A Systematic Review.

While the efficacy of telehealth in musculoskeletal physiotherapy has been supported, its cost effectiveness has not been established. Therefore, the objective of this review was to ascertain the health economic impact of outpatient musculoskeletal physiotherapy delivered by telehealth and describe methodology utilized to date. Electronic searching of PubMed, CINHAL, PEDro, and Web of Science databases was undertaken alongside handsearching for publications comprising: population: adults with musculoskeletal disorders managed in any type of outpatient ambulatory setting; intervention: physiotherapy delivered by telehealth comparison: traditional in-person physiotherapy; and, outcomes: economic analyses reporting costs and consequences. Appraisal was undertaken with the Downs and Black Questionnaire and the Consolidated Health Economic Evaluation Reporting Standards Checklist. Eleven studies of mixed methodological quality were included. Most were conducted in the public sector, from the economic perspective of the health service funder. Telehealth consistently produced health outcomes akin to in-person care. In all but one, telehealth was less costly, with savings achieved by reducing in-person consultations and travel costs. Telehealth is as effective and cheaper than in-person physiotherapy for musculoskeletal disorders in public hospital outpatients. Further health economic research is needed to clarify the economic impact of telehealth upon non-government providers of musculoskeletal physiotherapy.

POSA292 MSCopilot® as a Digital Tool to Collect Patients’ Insights in Health Economics Research in Multiple Sclerosis

MSCopilot® is a CE-marked software medical device used by multiple sclerosis (MS) patients for the remote monitoring of their disease in four dimensions: walking, upper-limb dexterity, cognition and low-contrast vision. This research explored the relevancy of the usage of MSCopilot® as a digital tool in PETALS study estimating the total societal impact of MS in France.

Designing and Implementing Deliberative Processes for Health Technology Assessment: A Good Practices Report of a Joint HTAi/ISPOR Task Force.

ObjectivesDeliberative processes for health technology assessment (HTA) are intended to facilitate participatory decision making, using discussion and open dialogue between stake-holders. Increasing attention is being given to deliberative processes, but guidance is lacking for those who wish to design or use them. Health Technology Assessment International (HTAi) and ISPOR—The Professional Society for Health Economics and Outcomes Research initiated a joint Task Force to address this gap.MethodsThe joint Task Force consisted of fifteen members with different backgrounds, perspectives, and expertise relevant to the field. It developed guidance and a checklist for deliberative processes for HTA. The guidance builds upon the few, existing initiatives in the field, as well as input from the HTA community following an established consultation plan. In addition, the guidance was subject to two rounds of peer review.ResultsA deliberative process for HTA consists of procedures, activities, and events that support the informed and critical examination of an issue and the weighing of arguments and evidence to guide a subsequent decision. Guidance and an accompanying checklist are provided for (i) developing the governance and structure of an HTA program and (ii) informing how the various stages of an HTA process might be managed using deliberation.ConclusionsThe guidance and the checklist contain a series of questions, grouped by six phases of a model deliberative process. They are offered as practical tools for those wishing to establish or improve deliberative processes for HTA that are fit for local contexts. The tools can also be used for independent scrutiny of deliberative processes.

Information Asymmetry in Hospitals: Evidence of the Lack of Cost Awareness in Clinicians.

BackgroundInformation asymmetries and the agency relationship are two defining features of the healthcare system. These market failures are often used as a rationale for government intervention. Many countries have government financing and provision of healthcare in order to correct for this, while health technology agencies also exist to improve efficiency. However, informational asymmetries and the resulting principal-agent problem still persist, and one example is the lack of cost awareness amongst clinicians. This study explores the cost awareness of clinicians across different settings.MethodsWe targeted four clinical cohorts: medical students, Senior House Officers/Interns, Mid-grade Senior Registrar/Residents, and Consultant/Attending Physicians, in six hospitals in the United Kingdom, the United States, Australia, New Zealand and Spain. The survey asked respondents to report the cost (as they recalled) of different types of scans, visits, medications and tests. Our analysis focused on the differential between the perceived/recalled cost and the actual cost. We explored variation across speciality, country and other potential confounders. Cost-awareness levels were estimated based on the cost estimates within 25% of the actual cost.ResultsWe received 705 complete responses from six sites across five countries. Our analysis found that respondents often overestimated the cost of common tests while underestimating high-cost tests. The mean cost-awareness levels varied between 4 and 23% for different items. Respondents acknowledged that they did not feel they had received adequate training in cost awareness.DiscussionThe current financial climate means that cost awareness and the appropriate use of scarce healthcare resources is more paramount than perhaps ever before. Much of the focus of health economics research is on high-cost innovative technologies, yet there is considerable waste in the system with respect to overtreatment and overdiagnosis. Common reasons put forward for this include defensive medicine, poor education, clinical uncertainty and the institution of protocols.ConclusionGiven the role of clinicians in the healthcare system, as agents both for patients and for providers, more needs to be done to remove informational asymmetries and improve clinician cost awareness.Supplementary InformationThe online version contains supplementary material available at 10.1007/s40258-022-00736-x.

Arabic Translation and Linguistic Validation of the SCAR-Q Scale Module.

Scars are a fairly common complaint in the clinical setting; they can arise from trauma, burns, or after surgical procedures. They can have a detrimental impact on the quality of life of patients. A well-established method of quantifying such an impact is through patient-reported outcome measures (PROM). SCAR-Q is a relatively new and robust questionnaire that was developed and validated by McMaster University. Our study aims to translate SCAR-Q to Arabic. SCAR-Q has a holistic approach to scars and does not target scars of a specific etiology. It has three main components: scar appearance, psychological impact, and symptoms associated with the scar. This translation will enable data collection, analysis, and interpretation from a previously untouched demographic. This article explains the steps taken to develop an accurate and validated Arabic SCAR-Q questionnaire based on World Health Organization (WHO) and The Professional Society for Health Economics and Outcomes Research (ISPOR) guidelines. We were able to methodically produce a validated translation of the SCAR-Q into Arabic that should potentially allow data collection and feedback from a very large segment of the world population regarding the impact of scars on their quality of life.

Creation and validation of the harmonized Arabic version of the Expanded Prostate Cancer Index Composite for Clinical Practice (EPIC-CP)

ABSTRACT Objectives Tocreate and validate a translated Arabic version of the Expanded Prostate Cancer Index Composite for Clinical Practice (EPIC-CP), a validated patient-reported outcome (PRO) widely used for assessing the quality of life in patients with prostate cancer (PCa). Patients and Methods Using the established protocol as defined by the Professional Society for the Health Economics and Outcomes Research (ISPOR) for translating patient care questionnaires, a harmonised translated Arabic version of EPIC-CP was created. The questionnaire was tested in native Arabic speakers from four different Arabic countries (Saudi Arabia, United Arab Emirates, Jordan, and Kuwait). Cronbach’s alpha and interclass coefficient correlation (ICC) analyses were used to test the internal consistency and test–retest reliability, respectively. In addition, PCa characteristics were collected for participants. Results In total, 168 patients with PCa participated in the study (39 from Saudi Arabia, 23 from United Arab Emirates, 65 from Jordan, and 41 from Kuwait). In all, 52 (31%) participants repeated the questionnaire for test–retest reliability analysis. The median (interquartile range [IQR]) age of patients included in the study was 66 (61–71) years. The median (IQR) PSA level was 9.8 (6–19) ng/mL. Most patients had Grade Group 2 PCa at diagnosis (31%), clinical stage cT1 (42%), managed primarily by urology (79%), and the primary treatment was radical prostatectomy (71%). The total Cronbach’s alpha coefficient was 0.84 demonstrating an acceptable internal consistency. The total ICC was also acceptable at 0.64. Conclusion The Arabic version of the EPIC-CP is a reliable and valid tool for assessing health-related quality of life for Arabic patients with PCa.

COVID-19 Vaccine Hesitancy among the Younger Generation in Japan.

Japan has vaccinated its older population; a mass vaccination program for younger citizens is underway. Accordingly, this study investigated vaccine hesitancy among younger Japanese citizens. We used online panel survey data from the Hiroshima Institute of Health Economics Research of Hiroshima University and applied probit regression models. Our study found that vaccine hesitancy among younger people was significantly higher than among older people. Moreover, vaccine hesitancy was significantly higher among younger women than younger men and inter-age-group differences in vaccine hesitancy were higher for younger men than for younger women. Regression demonstrated that subjective health status and anxiety about the future were significantly associated with vaccine hesitancy among younger women and younger men of all ages, respectively. Furthermore, marital status, university degree, anxiety about the future, and myopic view of the future had specific associations with vaccine hesitancy among younger women of different ages, while subjective health status, university degree, having children, financial literacy, household income and assets, and myopic view about the future had specific associations with vaccine hesitancy among younger men of varying ages. Therefore, these results suggest that policymakers should consider the diversity among the younger generation while developing effective, tailored communication strategies to reduce their vaccine hesitancy.

FBBVA Lecture 2020Exposure, Experience, and Expertise: Why Personal Histories Matter in Economics

AbstractPersonal experiences of economic outcomes, from global financial crises to individual-level job losses, can shape individual beliefs, risk attitudes, and choices for years to come. A growing literature on experience effects shows that individuals act as if past outcomes that they experienced were overly likely to occur again, even if they are fully informed about the actual likelihood. This reaction to past experiences is long-lasting though it decays over time as individuals accumulate new experiences. Modern brain science helps understand these processes. Evidence on neural plasticity reveals that personal experiences and learning alter the strength of neural connections and fine-tune the brain structure to those past experiences (“use-dependent brain”). I show that experience effects help understand belief formation and decision-making in a wide range of economic applications, including inflation, home purchases, mortgage choices, and consumption expenditures. I argue that experience-based learning is broadly applicable to economic decision-making and discuss topics for future research in education, health, race, and gender economics.

The Value of Health Economics and Outcomes Research in Prosthetics and Orthotics.

The demand has increased for evidence regarding the effectiveness and value of prosthetic and orthotic rehabilitation interventions. Clinicians and managers are under pressure to provide treatment recommendations and demonstrate effectiveness through outcomes. It is often assumed that rehabilitation interventions, including the provision of custom-made and custom-fit orthotic and prosthetic devices, are beneficial to patients. Assessing the value of orthotic and prosthetic services has become more critical to continue to ensure equitable access to needed services. Health economics and outcomes research methods serve as tools to gauge the value of prosthetic and orthotic rehabilitation interventions. The purpose of this article is to provide an overview of the current need of health economics and outcomes research in orthotics and prosthetics, to introduce common economic methods that assist to generate real-world evidence, and to discusses the potential value of economic methods for clinicians and clinical practice.

Genetic counseling research and COVID-19: A lesson in resiliency.

GenCOUNSEL is the largest genetic counseling research grant awarded to date and brings together experts in genetic counseling, genomics, law and policy, health services implementation, and health economics research. It is the first project of its kind to examine the genetic counseling issues associated with the clinical implementation of genome‐wide sequencing (exome and genome sequencing). GenCOUNSEL is a Canadian‐based, multi‐method research study that takes place over a variety of sites, including non‐clinical, clinical, and laboratory research sites and includes the training of undergraduate and graduate students. The COVID‐19 pandemic will likely have a lasting impact on genetic counseling service delivery, research, and training. Almost every aspect of the GenCOUNSEL research project has been impacted by the COVID‐19 pandemic. Here we describe how our research recruitment strategies, methods, resource allocation, and training capacity have been affected. We discuss ways that we have adapted to the pandemic including revision of our research methods and work to understand the barriers in order to optimize opportunities. We finish with take‐home messages to fellow researchers highlighting the importance of resiliency in genetic counseling research.

Loss Aversion and Health Behaviors: Results from Two Incentivized Economic Experiments.

Experimental research in health economics has analyzed the effects of economic preference parameters such as risk attitude and time preference on the probability of adopting risky health behaviors. However, the existing evidence is mixed and previous research often fails to include controls for other determinants of health behaviors such as personality traits. The aim of this research is to analyze the relationships between an incentivized measure of loss aversion and three health behaviors: smoking, binge drinking, and engaging in physical activity. Loss aversion is a preference measure that has been derived from prospect theory as an alternative approach to analyze decision-making under risk, such as the decision to invest in health capital, and has never been used in an analysis of the determinants of health behaviors before. Using two experimental samples of college students in the Republic of Korea and the United States of America, and controlling for Big Five personality traits and a host of individual-level control variables, there are no statistically significant relationships between loss aversion and the three aforementioned health behaviors, but relationships for Big Five conscientiousness, extraversion, agreeableness, and neuroticism. A candidate explanation might be lack of domain independence for loss aversion. Differences between the Korean and the US samples indicate the possibility of intercultural differences.

Effect of antibiotic stewardship interventions in primary care on antimicrobial resistance of Escherichia coli bacteraemia in England (2013–18): a quasi-experimental, ecological, data linkage study

SummaryBackgroundAntimicrobial resistance is a major global health concern, driven by overuse of antibiotics. We aimed to assess the effectiveness of a national antimicrobial stewardship intervention, the National Health Service (NHS) England Quality Premium implemented in 2015–16, on broad-spectrum antibiotic prescribing and Escherichia coli bacteraemia resistance to broad-spectrum antibiotics in England.MethodsIn this quasi-experimental, ecological, data linkage study, we used longitudinal data on bacteraemia for patients registered with a general practitioner in the English National Health Service and patients with E coli bacteraemia notified to the national mandatory surveillance programme between Jan 1, 2013, and Dec 31, 2018. We linked these data to data on antimicrobial susceptibility testing of E coli from Public Health England's Second-Generation Surveillance System. We did an ecological analysis using interrupted time-series analyses and generalised estimating equations to estimate the change in broad-spectrum antibiotics prescribing over time and the change in the proportion of E coli bacteraemia cases for which the causative bacteria were resistant to each antibiotic individually or to at least one of five broad-spectrum antibiotics (co-amoxiclav, ciprofloxacin, levofloxacin, moxifloxacin, ofloxacin), after implementation of the NHS England Quality Premium intervention in April, 2015.FindingsBefore implementation of the Quality Premium, the rate of antibiotic prescribing for all five broad-spectrum antibiotics was increasing at rate of 0·2% per month (incidence rate ratio [IRR] 1·002 [95% CI 1·000–1·004], p=0·046). After implementation of the Quality Premium, an immediate reduction in total broad-spectrum antibiotic prescribing rate was observed (IRR 0·867 [95% CI 0·837–0·898], p<0·0001). This effect was sustained until the end of the study period; a 57% reduction in rate of antibiotic prescribing was observed compared with the counterfactual situation (ie, had the Quality Premium not been implemented). In the same period, the rate of resistance to at least one broad-spectrum antibiotic increased at rate of 0·1% per month (IRR 1·001 [95% CI 0·999–1·003], p=0·346). On implementation of the Quality Premium, an immediate reduction in resistance rate to at least one broad-spectrum antibiotic was observed (IRR 0·947 [95% CI 0·918–0·977], p=0·0007). Although this effect was also sustained until the end of the study period, with a 12·03% reduction in resistance rate compared with the counterfactual situation, the overall trend remained on an upward trajectory. On examination of the long-term effect following implementation of the Quality Premium, there was an increase in the number of isolates resistant to at least one of the five broad-spectrum antibiotics tested (IRR 1·002 [1·000–1·003]; p=0·047).InterpretationAlthough interventions targeting antibiotic use can result in changes in resistance over a short period, they might be insufficient alone to curtail antimicrobial resistance.FundingNational Institute for Health Research, Economic and Social Research Council, Rosetrees Trust, and The Stoneygate Trust.

Annual Direct Economic Burden and Influencing Factors of Dry Eye Diseases in Central China

ABSTRACT Purpose To study the direct economic burden of dry eye diseases (DED) on Chinese residents and analyze the influencing factors of the direct economic burden of patients with DED. Methods Two hundred and twenty-one Chinese adults with DED who underwent treatment in Wuhan Aier Hankou Eye Hospital were enrolled in this health economics research from January 2018 to August 2018 and followed for at least 1 year. Examination, pharmacological therapy, and nonpharmacological therapy costs were collected to calculate the annual direct economic burden of DED on patients through the outpatient medical record system. Results Annual direct economic burden caused by DED on each patient was $465.54 ± 303.08. The direct economic burden of female patients in the 40–49 years group was significantly higher than that of male patients (P < .05). Age, number of hospital visits and severity of DED were showed a significant influence on the direct economic burden both in univariate linear regression analysis and multiple linear regression analysis. Subtype of DED was showed a significant influence on the direct economic burden in multiple linear regression analysis after eliminating confounding factors. Conclusion This study preliminarily analyzed the direct economic burden of Chinese DED patients. Age, number of hospital visits, severity of DED, mixed and evaporative dry eye (EDE) subtypes are shown to be the significant influencing factors of the direct economic burden and sex is a potential influencing factor.

The Community PrEP Study: a randomized control trial leveraging community-based platforms to improve access and adherence to pre-exposure prophylaxis to prevent HIV among adolescent girls and young women in South Africa\u2014study protocol

BackgroundHIV incidence among South African adolescent girls and young women (AGYW) remains high, but could be reduced by highly effective pre-exposure prophylaxis (PrEP). Unfortunately, AGYW report significant barriers to clinic-based sexual and reproductive health services. Even when AGYW access PrEP as an HIV prevention method, poor prevention-effective use was a serious barrier to achieving its optimal HIV prevention benefits. Determining the acceptability and feasibility of community-based platforms to increase AGYW’s access to PrEP, and evaluating behavioural interventions to improve prevention-effective use of PrEP are needed.MethodsWe propose a mixed-methods study among AGYW aged 16–25 years in Eastern Cape Province, South Africa. In the first component, a cross-sectional study will assess the acceptability and feasibility of leveraging community-based HIV counselling and testing (CBCT) platforms to refer HIV-negative, at-risk AGYW to non-clinic-based, same-day PrEP initiation services. In the second component, we will enrol 480 AGYW initiating PrEP via our CBCT platforms into a three-armed (1:1:1) randomized control trial (RCT) that will evaluate the effectiveness of adherence support interventions to improve the prevention-effective use of PrEP. Adherence will be measured over 24 months via tenofovir-diphosphate blood concentration levels. Qualitative investigations will explore participant, staff, and community experiences associated with community-based PrEP services, adherence support activities, study implementation, and community awareness. Costs and scalability of service platforms and interventions will be evaluated.DiscussionThis will be the first study to assess the acceptability and feasibility of leveraging CBCT platforms to identify and refer at-risk AGYW to community-based, same-day PrEP initiation services. It will also provide quantitative and qualitative results to inform adherence support activities and services that promote the prevention-effective use of PrEP among AGYW. By applying principles of implementation science, behavioural science, and health economics research, we aim to inform strategies to improve access to and prevention-effective use of PrEP by AGYW.Trial registrationClinicalTrials.govNCT03977181. Registered on 6 June 2019—retrospectively registered.

Has translational genomics come of age in Africa?

The rapid increase in genomics research in Africa and the growing promise of precision public health (PPH) begs the question of whether African genomics has come of age and is being translated into improved healthcare for Africans. An assessment of the continent's readiness suggests that genetic service delivery remains limited and extremely fragile. The paucity of data on mutation profiles for monogenic disorders and lack of large genome-wide association cohorts for complex traits in African populations is a significant barrier, coupled with extreme genetic variation across different regions and ethnic groups. Data from many different populations are essential to developing appropriate genetic services. Of the proposed genetic service delivery models currently used in Africa-Uncharacterized, Limited, Disease-focused, Emerging and Established-the first three best describe the situation in most African countries. Implementation is fraught with difficulties related to the scarcity of an appropriately skilled medical genetic workforce, limited infrastructure and processes, insufficient health funding and lack of political support, and overstretched health systems. There is a strong nucleus of determined and optimistic clinicians and scientists with a clear vision, and there is a hope for innovative solutions and technological leapfrogging. However, a multi-dimensional approach with active interventions to stimulate genomic research, clinical genetics and overarching healthcare systems is needed to reduce genetic service inequalities and accelerate PPH on the continent. Human and infrastructure capacity development, dedicated funding, political will and supporting legislation, and public education and awareness, are critical elements for success. Africa-relevant genomic and related health economics research remains imperative with an overarching need to translate knowledge into improved healthcare. Given the limited data and genetic services across most of Africa, the continent has not yet come of 'genomics' age.