Ongoing Linkage Research Articles

Planning spatial obsolescence: residential segregation and the racist theory of (anti-)value

An outpouring of critical sub/urban scholarship in recent years has explored the historical and ongoing linkages between race, real estate, and space in the United States. Much of this literature has positioned residential segregation as crucial for structuring the geographies of capital accumulation, highlighting how segregation delimits places for extraction and dispossession. In this essay, I build from the foundations this literature lays by bringing together Charles Abrams’ concept of “the racist theory of value” (RTV) and David Harvey’s notion of “anti-value” to illuminate the centrality of racialized devaluation in the accumulation process in the US. Specifically, I contend that the RTV, in its role in entrenching residential segregation and collapsing race and value together in space, has helped to demarcate and contain the devaluation that capitalism requires in Black residential spaces. As a key innovation for real estate capital to manage the geographies of (anti-)value, the RTV ensures that the economic losses generated in the accumulation process are felt most acutely in Black communities. In this way, the RTV constitutes a form of planned spatial obsolescence wherein the restricted movement of Black people is converted into the controlled movement of devaluation.

Telehealth for Comprehensive Care to Quarantine Residents: A Novel Approach and Lessons Learned.

Proactive engagement and care with regular and timely information are required to manage the health and well-being of people in quarantine. At Australia's Howard Springs International Quarantine Facility, a telehealth model was rapidly established using trained non-clinical Customer Service Officers (CSO's) with the aim to provide comprehensive care to residents, maximize staff safety, and reduce clinical workforce capacity pressures. We describe this model, whereby CSO's provided residents with daily COVID-19 symptom and well-being screening, weekly psychological screening, and ongoing linkage to additional clinical and administrative services. In addition, CSO's went beyond these duties to deliver personalized care through delivery of care packages and attendance of the departure point to farewell residents. From October 2020 to May 2021, across 7105 residents, we estimated that CSO's prevented over 75 000 face-to-face resident visits, which reduced workforce requirements and preserved staff safety through minimizing potential COVID-19 transmission and time spent in personal protective equipment in the challenging ambient environment. We share key lessons learned which may inform future telehealth models and guide a positive experience for quarantine residents.

Abstract 11836: Higher Burden of Supraventricular Ectopy is Independently Associated With Greater Risk of Dementia in Older Adults Without Atrial Fibrillation: The Atherosclerosis Risk in Communities Study

Introduction: In older adults without atrial fibrillation (AF), it is unclear if higher burden of supraventricular ectopy (SVE) is associated with dementia risk independent of cardiovascular risk factors and clinically documented stroke. Hypothesis: In older adults without AF, higher burden of SVE including premature atrial contractions (PAC) and atrial tachycardias (AT) are associated with a higher risk of dementia. Methods: Among 2167 participants (mean age, 79 years, 60% female, 26% Black) without adjudicated dementia, stroke or AF, at baseline (2016-17), AT and PAC were measured over 2 weeks by an ambulatory, continuous electrocardiogram recorder (Zio XT patch, iRhythm Technologies, Inc.). We quantified burden of PACs and ATs as: 1) natural log of frequency (episodes/day) due to skewed distributions, and 2) a dichotomous frequency measure, split at the median. Additionally, we dichotomized duration of the longest AT episode at the median. Dementia was adjudicated based on cognitive assessments through 2019 using the Clinical Dementia Rating scale at study visits or by telephone cognitive interviews, informant interviews, and ongoing linkage to medical records. We calculated relative risk of incident dementia using Poisson regression with robust error variance. Results: At baseline, median Zio XT patch wear time was 13.8 days (interquartile interval 13-14 days). Over 2 years of follow-up, 66 (3.0%) participants developed dementia. Higher frequency of AT and PAC (continuous or dichotomous) were associated with a higher risk of dementia independent of incident AF, stroke, and cardiovascular risk factors (Table). Conclusions: In older adults without AF, higher burden of SVE is associated with a greater risk of dementia independent of incident AF, stroke, and cardiovascular risk factors. Future research should define underlying mechanisms and evaluate the effect of lowering SVE burden on the risk of dementia in older adults with a higher SVE burden.

From hierarchies to networks: The organizational evolution of the international drug trade

The evolution of the transnational drug trade has precipitated an organizational and operational restructuring of organized crime groups (OCGs). This restructuring has produced a move away from formerly hierarchical and tightly controlled organizations, to more loosely coupled and decentralized network forms. But what has motivated the OCGs to restructure into more loosely coupled networks? Through an examination of the activities and strategies of Latin American OCGs, this article identifies market considerations, network responses to law enforcement pressure, and centrifugal forces within OCG networks as the key drivers of these changes. Despite this, OCGs still require some sort of organizational glue that connects and facilitates the activities of these decentralized networks. This is precisely why brokers are becoming vital actors in criminal networks. The data presented in this article suggests that brokers have assumed great significance in networks especially in relation to the ongoing linkages occurring between Latin American OCGs and with those in the Asia-Pacific.

Educate – mentor – nurture: improving the transition from initial teacher education to qualified teacher status and beyond

ABSTRACT Teacher recruitment and retention concerns across the world remain a high priority to ensure the best possible education opportunities for children and young people. Related to recruitment and retention, but also important in its own right, is the wellbeing of early career teachers. This study investigated the wellbeing of early career teachers in England and Australia to examine how best to provide early career support as a foundation for professional growth and longer-term retention. Survey responses from 67 newly qualified teachers in England and Australia, and five semi-structured interviews, provided rich insights into new teachers’ experiences, highlighting the overwhelming nature of the transition experience as new teachers struggled to adjust as they moved from the relative safety of the initial teacher education context to the reality of work in schools, in particular managing considerable workload which continued beyond the initial transition phase. Vital to successful transition were ongoing linkages between initial teacher education providers and employing schools, a supportive community of practice and bespoke mentoring. This has important policy implications, emphasising the need for personalised approaches to transition with high-quality mentoring during the first few years in the profession. An ‘educate – mentor – nurture’ model is proposed, to enable smoother and more supportive transitions, leading to professional growth and wellbeing.

COVID-19 geopolitics: silence and erasure in Cambodia and Myanmar in times of pandemic

ABSTRACT COVID-19 has become a global public health pandemic which requires scientific, technical, public policy and health system responses at multi-scales. COVID-19 is also a pandemic that is impacting socio-economic and political systems in profound ways. This paper briefly outlines why and how pandemics may expose uneven socio-economic geographies of vulnerability and risk, and also be thought of in relation to environmental and non-human challenges to our geopolitical map of territorial nation-states and sovereignties. In relation to Southeast Asia we argue that preexisting and ongoing political-economy linkages are shaping key responses to COVID-19. In particular, we consider the geopolitical and geoeconomic reasoning of Cambodia and Myanmar, and their relations with China. We reflect on the factors that shape their national responses in response to the pandemic, characterized by certain silences and erasures to their local geographies.

HIV prevalence and TB in migrant miners communities of origin in Gaza Province, Mozambique: The need for increasing awareness and knowledge.

BackgroundAs part of ongoing efforts to generate evidence needed on HIV and tuberculosis (TB) to inform policies and programs aimed to improve the health outcomes of migrants and communities affected by migration and mining, a preliminary investigation was conducted through a biological and behavioral (BBS) approach related to HIV and TB in two communities of origin of migrant mineworkers in Gaza Province. The main objective was to determine the prevalence of HIV and the rates of asymptomatic infection by TB, and the social and behavioral risk factors associated.MethodsA cross-sectional survey was conducted from May to June 2017 using a simple random sampling methodology. Eligible participants were individuals who were living in the community at the time the survey was conducted, which included adult mine workers and members of their families aged 18 and above. A socio-behavioral questionnaire was administered, blood specimens were collected for HIV testing (Determine/Unigold) and sputum for TB (GeneXpert MTB/RIF) was collected. The statistical analysis was performed using the R studio software to produce means, proportion and odds ratio at 95% confidence intervals.ResultsA total of 1012 participants were enrolled, 75.2% were females, with a median age of 34. The overall prevalence of HIV found in the two communities was 24.2% (CI: 21.6–27.0) and was higher in the rural community (31.6%; 95% CI: 27.0–35.3). The prevalence of active TB was found to be 0.3% (n = 3) while 7.5% of the participants self-reported to have been previously diagnosed with TB at some point in their life. Only 2.8% of participants had knowledge of the basic principles of TB transmission. Condom use at last sexual intercourse with a regular partner was low among both sexes (17.3% male and 12.6% female). A considerable proportion of participants had not been aware of their HIV positive serostatus(31.1% female and 25.0% male). About 1/3 of the participants had had a history of STIs.ConclusionThe results of this survey confirm a high prevalence of HIV in communities of origin of migrant miners in Gaza province. Findings also demonstrated low levels of awareness/ knowledge and prevention of TB and HIV. It is important to strengthen strategies that encourage regular HIV testing and TB screening. Appropriate communication interventions on methods of transmission and prevention of HIV and TB in these communities must be intensified, as well as ensuring ongoing linkage to TB and HIV social and healthcare services.

Cohort profile: the Danish Future Occupation of Children and Adolescents cohort (the FOCA cohort): education, work-life, health and living conditions in a life-course perspective

PurposeThe Future Occupation of Children and Adolescents cohort (the FOCA cohort) is a large population-based cohort study that was established as a resource for research in order to study adolescence...

The never-ending Pacific War: Imamura Shōhei and the ruse of memory

This article focuses on three documentaries made by the acclaimed director Imamura Shōhei (1926–2006) for Tokyo Channel 12 between 1971 and 1973. The three documentaries – In Search of the Unreturned Soldiers in Malaysia (1971), In Search of the Unreturned Soldiers in Thailand (1971); and Outlaw Matsu Returns (1973) – challenge contemporary accounts that valorise the Japanese state as the ultimate political agent of progress. Imamura presents his documentaries as exposés into the actual operations of collusion between the Japanese ruling elite and business, and the ongoing linkages between militarism, autocracy and Japanese prosperity. Each of the three documentaries interrogates how Japan's relations with other Asian nations are deformed by the ruse of memory, by focusing on Japanese war responsibility and the unfinished history of the Pacific War: a war that is not a problem of yesterday but of the today. In his documentaries, Imamura investigates how the spectre of the war lies heavy on the present, not only for the Japanese people, but also for the peoples who inhabited the regions occupied by Japan that became the bloody battlefields of the Pacific War.

Cohort profile: workers’ compensation in a changing Australian labour market: the return to work (RTW) study

PurposeWorkers’ compensation claims for older workers and workers who have suffered psychological injury are increasing as a proportion of total claims in many jurisdictions. In the Australian state of Victoria,...

Integrated care for participants attending general practice: a record linkage study based on the 45 and Up population cohort study

Introduction : Addressing the burden of chronic disease and reducing the cost of health care has provoked interest in better integrating health care. Aim: To explore the uptake of measures of integrated care among a cohort of participants in the 45 and Up Study and to examine the factors that are associated with uptake and the impact on hospitalisation. Theory/Methods : Eligible subjects were identified from the NSW 45 and Up longitudinal population health study who resided in a specific catchment area. Their baseline data were linked to the NSW Admitted Patient Data Collection, NSW Registry of Births Deaths and Marriages, and Australian Department of Human Services Medicare data. The final linked data collection comprised 26,429 participants. Measures of integrated care included: a) Preparation of a general practice management plan (GPMP) and/or implementation of team care arrangements (TCA); b) Review of GPMP/TCA; c) Continuity of primary care provider; d) Medicare claims for health assessments, allied health or nursing care. Hospitalisation was defined as any hospitalisation in the 12 months following recruitment. The study factors included demographic characteristics, socioeconomic status, lifestyle and health and wellbeing. Results : A claim for preparation of a GPMP/TCA arrangement was noted for 16% and a review of GPMP/TCA by 6% of subjects. Older age, number of health conditions, physical impairment, psychological distress and frailty were associated with increased likelihood of preparation or review claims. A third of participants had continuity of care. Continuity increased with age, being born overseas and physical limitation and psychological distress or frailty. Seven percent of subjects had claims for nursing and allied health and these were more frequent in females, older participants, and those who reported more health conditions, physical limitation, psychological distress or frailty. One quarter of participants had one or more hospitalisations in the 12 months following recruitment. Claims for the integration measures were associated with an increased risk of hospitalisation. Discussions, conclusion and learnings : There are positive benefits from implementing integrated measures in primary care for older patients with chronic health conditions. There are opportunities to enhance the implementation of these among at risk hospitalised patients to ensure that they are referred back to general practice following an admission. Limitations : The 45 and Up cohort is not designed as a cross-sectional study, nor can it provide prevalence estimates. The limitation of current linked data collections based on administrative data collections is the lack of clinical indicators. This preliminary work had the capacity to investigate only 12 months of follow-up. The facility to include ongoing linkage will enable follow up of at least 10 years of data. Suggestions for future research : Further research is needed to explore associations between general practice care and hospitalisation and to examine the factors that are associated with care planning and multidisciplinary care following hospitalisation.

Assessing the impact of different grouping methods: time to rethink and regroup?

ABSTRACT
 ObjectivesThe grouping of record-pairs to determine which administrative records belong to the same individual is an important process in record linkage. A variety of grouping methods are used but the relative benefits of each are unknown. We evaluate a number of grouping methods against the traditional merge based clustering approach using large scale administrative data.
 ApproachThe research aimed to both describe current grouping techniques used for record linkage, and to evaluate the most appropriate grouping method for specific circumstances. A range of grouping strategies were applied to three datasets with known truth sets. Conditions were simulated to appropriately investigate one-to-one, many-to-one and ongoing linkage scenarios.
 ResultsResults suggest alternate grouping methods will yield large benefits in linkage quality, especially when the quality of the underlying repository is high. Stepwise grouping methods were clearly superior for one-to-one linkage. There appeared little difference in linkage quality between many-to-one grouping approaches. The most appropriate techniques for ongoing linkage depended on the quality of the population spine and the underlying dataset.
 ConclusionsThese results demonstrate the large effect that the choice of grouping strategy can have on overall linkage quality. Ongoing linkages to high quality population spines provide large improvements in linkage quality compared to merge based linkages. Procuring or developing such a population spine will provide high linkage quality at far lower cost than current methods for improving linkage quality. By improving linkage quality at low cost, this resource can be further utilised by health researchers.

Cancer Data and Aboriginal Disparities (CanDAD)—developing an Advanced Cancer Data System for Aboriginal people in South Australia: a mixed methods research protocol

IntroductionIn Australia, Aboriginal and Torres Strait Islander People carry a greater burden of cancer-related mortality than non-Aboriginal Australians. The Cancer Data and Aboriginal Disparities Project aims to develop and test...

Research impact in the community-based health sciences: an analysis of 162 case studies from the 2014 UK Research Excellence Framework.

BackgroundThe 2014 UK Research Excellence Framework (REF2014) generated a unique database of impact case studies, each describing a body of research and impact beyond academia. We sought to explore the nature and mechanism of impact in a sample of these.MethodsThe study design was manual content analysis of a large sample of impact case studies (producing mainly quantitative data), plus in-depth interpretive analysis of a smaller sub-sample (for qualitative detail), thereby generating both breadth and depth. For all 162 impact case studies submitted to sub-panel A2 in REF2014, we extracted data on study design(s), stated impacts and audiences, mechanisms of impact, and efforts to achieve impact. We analysed four case studies (selected as exemplars of the range of approaches to impact) in depth, including contacting the authors for their narratives of impact efforts.ResultsMost impact case studies described quantitative research (most commonly, trials) and depicted a direct, linear link between research and impact. Research was said to have influenced a guideline in 122 case studies, changed policy in 88, changed practice in 84, improved morbidity in 44 and reduced mortality in 25. Qualitative and participatory research designs were rare, and only one case study described a co-production model of impact. Eighty-two case studies described strong and ongoing linkages with policymakers, but only 38 described targeted knowledge translation activities. In 40 case studies, no active efforts to achieve impact were described. Models of good implementation practice were characterised by an ethical commitment by researchers, strong institutional support and a proactive, interdisciplinary approach to impact activities.ConclusionREF2014 both inspired and documented significant efforts by UK researchers to achieve impact. But in contrast with the published evidence on research impact (which depicts much as occurring indirectly through non-linear mechanisms), this sub-panel seems to have captured mainly direct and relatively short-term impacts one step removed from patient outcomes. Limited impacts on morbidity and mortality, and researchers’ relatively low emphasis on the processes and interactions through which indirect impacts may occur, are concerns. These findings have implications for multi-stakeholder research collaborations such as UK National Institute for Health Research Collaborations for Leadership in Applied Health Research and Care, which are built on non-linear models of impact.

Technical challenges of providing record linkage services for research

BackgroundRecord linkage techniques are widely used to enable health researchers to gain event based longitudinal information for entire populations. The task of record linkage is increasingly being undertaken by specialised linkage units (SLUs). In addition to the complexity of undertaking probabilistic record linkage, these units face additional technical challenges in providing record linkage ‘as a service’ for research. The extent of this functionality, and approaches to solving these issues, has had little focus in the record linkage literature. Few, if any, of the record linkage packages or systems currently used by SLUs include the full range of functions required.MethodsThis paper identifies and discusses some of the functions that are required or undertaken by SLUs in the provision of record linkage services. These include managing routine, on-going linkage; storing and handling changing data; handling different linkage scenarios; accommodating ever increasing datasets. Automated linkage processes are one way of ensuring consistency of results and scalability of service.ResultsAlternative solutions to some of these challenges are presented. By maintaining a full history of links, and storing pairwise information, many of the challenges around handling ‘open’ records, and providing automated managed extractions are solved. A number of these solutions were implemented as part of the development of the National Linkage System (NLS) by the Centre for Data Linkage (part of the Population Health Research Network) in Australia.ConclusionsThe demand for, and complexity of, linkage services is growing. This presents as a challenge to SLUs as they seek to service the varying needs of dozens of research projects annually. Linkage units need to be both flexible and scalable to meet this demand. It is hoped the solutions presented here can help mitigate these difficulties.

Policy recommendations for addressing privacy challenges associated with cell-based research and interventions.

BackgroundThe increased use of human biological material for cell-based research and clinical interventions poses risks to the privacy of patients and donors, including the possibility of re-identification of individuals from anonymized cell lines and associated genetic data. These risks will increase as technologies and databases used for re-identification become affordable and more sophisticated. Policies that require ongoing linkage of cell lines to donors’ clinical information for research and regulatory purposes, and existing practices that limit research participants’ ability to control what is done with their genetic data, amplify the privacy concerns.DiscussionTo date, the privacy issues associated with cell-based research and interventions have not received much attention in the academic and policymaking contexts. This paper, arising out of a multi-disciplinary workshop, aims to rectify this by outlining the issues, proposing novel governance strategies and policy recommendations, and identifying areas where further evidence is required to make sound policy decisions. The authors of this paper take the position that existing rules and norms can be reasonably extended to address privacy risks in this context without compromising emerging developments in the research environment, and that exceptions from such rules should be justified using a case-by-case approach. In developing new policies, the broader framework of regulations governing cell-based research and related areas must be taken into account, as well as the views of impacted groups, including scientists, research participants and the general public.SummaryThis paper outlines deliberations at a policy development workshop focusing on privacy challenges associated with cell-based research and interventions. The paper provides an overview of these challenges, followed by a discussion of key themes and recommendations that emerged from discussions at the workshop. The paper concludes that privacy risks associated with cell-based research and interventions should be addressed through evidence-based policy reforms that account for both well-established legal and ethical norms and current knowledge about actual or anticipated harms. The authors also call for research studies that identify and address gaps in understanding of privacy risks.

History, geography and population structure influence the distribution and heritability of blood and anthropometric quantitative traits in nine Sardinian genetic isolates

Isolated founder populations which exhibit great genetic and environmental homogeneity provide an attractive setting for the study of quantitative traits (QTs). Geneticists have repeatedly turned to population isolates and the past successes have prompted increased interest among medical researchers. We studied nine small isolated villages of a secluded area of Sardinia (Ogliastra), all of them characterized by a few founders, high endogamy rates, slow population expansion and a distinct genetic makeup. Anthropometric and blood parameters, 43 QTs in all, were analysed in about 9000 voluntary subjects for whom extended genealogical information was available. We explored the distribution and examined mean differences of each trait among villages by analysis of variance (ANOVA). A heritability analysis with the variance component (VC) method was performed. Results show significant differences in the distribution of most traits between groups of villages located in two distinct geographical areas already identified by a previous population structure analysis, thus supporting the existence of differentiation among sub-populations in the same region. Heritability estimates range between 30 and 89%, demonstrating that genetic effects substantially contribute to phenotypic variation of all investigated traits and that this population provides excellent research conditions for gene-mapping projects. Results suggest that history, geographic location and population structure may have influenced the genetic and phenotypic features of these isolates. Our findings may be useful for the ongoing linkage and association studies in these isolates and suggest that a thorough characterization of population is valuable to better identify genes or variants that may be rare in the population at large and peculiar to single villages.

Subsurface cycling of nitrogen and anaerobic aromatic hydrocarbon biodegradation revealed by nucleic Acid and metabolic biomarkers.

Microbial processes are crucial for ecosystem maintenance, yet documentation of these processes in complex open field sites is challenging. Here we used a multidisciplinary strategy (site geochemistry, laboratory biodegradation assays, and field extraction of molecular biomarkers) to deduce an ongoing linkage between aromatic hydrocarbon biodegradation and nitrogen cycling in a contaminated subsurface site. Three site wells were monitored over a 10-month period, which revealed fluctuating concentrations of nitrate, ammonia, sulfate, sulfide, methane, and other constituents. Biodegradation assays performed under multiple redox conditions indicated that naphthalene metabolism was favored under aerobic conditions. To explore in situ field processes, we measured metabolites of anaerobic naphthalene metabolism and expressed mRNA transcripts selected to document aerobic and anaerobic microbial transformations of ammonia, nitrate, and methylated aromatic contaminants. Gas chromatography-mass spectrometry detection of two carboxylated naphthalene metabolites and transcribed benzylsuccinate synthase, cytochrome c nitrite reductase, and ammonia monooxygenase genes indicated that anaerobic metabolism of aromatic compounds and both dissimilatory nitrate reduction to ammonia (DNRA) and nitrification occurred in situ. These data link formation (via DNRA) and destruction (via nitrification) of ammonia to in situ cycling of nitrogen in this subsurface habitat, where metabolism of aromatic pollutants has led to accumulation of reduced metabolic end products (e.g., ammonia and methane).

Research and Advice Giving: A Functional View of Evidence‐Informed Policy Advice in a Canadian Ministry of Health

As evidence-based medicine grows in influence and scope, its applicability to health policy prompts two questions: Can the principles and, more specifically, the tools used to bring research into the clinical world apply to civil servants offering advice to politicians? If not, what approach should the evidence-oriented health policy organization take to improve the use of research? This article reviews evidence-based medicine and models of research use in policy. Then it reports the results of interviews with civil servants in the Ontario Ministry of Health, which recently adopted a stewardship rather than an operational role, incorporating many evidence-oriented strategies. The interviews focused on functional roles for research-based evidence in policy advice. The clinical context and tools for evidence-based medicine can rarely be generalized to policy. Most current models of research use offer lessons to researchers wishing to apply their work to policy but little help for civil servants wishing to become more evidence oriented. The interviews revealed functional roles for research in setting agendas (noting upcoming issues and screening interest groups' claims), developing new policies (reducing uncertainty, helping speak truth to power, and preventing repetition and duplication), and monitoring or modifying existing policies (continuously improving programs and creating a culture of inquiry). Each area requires different tools to help filter the push of evidence from researchers and set agendas, to facilitate the urgent pull on relevant research by civil servants developing new policy, and to support ongoing linkage and exchange between civil servants and researchers for monitoring and modifying existing policy. A functional framework for evidence-informed policy advice is useful for distinguishing the activity from evidence-based medicine and "auditing" the balance of efforts across the different functional roles of research in policy.

Severe congenital neutropenia: new genes explain an old disease

This review summarizes the recent advances in the diagnosis and molecular characterization of isolated and syndromal forms of severe congenital neutropenia. It has become evident that severe congenital neutropenia comprises several genetically distinct entities. In 1999, mutations were identified in the neutrophil elastase gene ELA2. ELA2 mutations have been found in cyclic, sporadic and autosomal dominant neutropenia. Recently, homozygous mutations in the antiapoptotic gene HAX1 were found in patients with autosomal recessive severe congenital neutropenia. Ongoing linkage studies suggest that more and, as yet unidentified, genes may be involved in the pathophysiology of severe congenital neutropenia. In other patients, congenital neutropenia is not an isolated finding but is associated with other abnormalities, in particular, lymphoid immunodeficiency and pigmentation defects such as Chédiak-Higashi syndrome, Griscelli syndrome type 2, Hermansky-Pudlak syndrome type 2, or deficiency of the endosomal adaptor p14. The molecular identification of these disorders originating from mutations in lysosome (related) proteins has advanced our knowledge of intracellular protein trafficking. Recent insights into the molecular etiology of severe congenital neutropenia provide the opportunity for a definitive genetic classification system. Based on this knowledge, disease-related risks may be recognized and optimized therapeutic options may become available.