Estimating the burden and economic impact of pediatric genetic disease

Gonzaludo, Nina; Belmont, John W.; Gainullin, Vladimir G.; Taft, Ryan J.

doi:10.1038/s41436-018-0398-5

Cited by 65 publications

(57 citation statements)

References 25 publications

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“…There are limitations to the in-patient data used for the length of stay analysis. However, another study [ 23 ] which looked at the health system burden of RD had similar findings, showing that length of stay is higher in both paediatric and neonatal genetic disease compared to non-genetic disease. In our study data for bed usage analysis only captured RD patients who passed away in hospital using the search criterion ‘discharged dead’, which accounted for an estimated 49% of all deaths in this study period.…”

Section: Introductionmentioning

confidence: 75%

A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland

Gunne

McGarvey²,

Hamilton³

et al. 2020

Orphanet J Rare Dis

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Aims To ascertain the number of paediatric deaths (0–14 years) with an underlying rare disease in the Republic of Ireland between the years 2006–2016, and to analyse bed usage by a paediatric cohort of rare disease inpatients prior to in-hospital death. Background Rare diseases are often chronically debilitating and sometimes life-threatening diseases, with the majority (69.9%) of rare diseases being of paediatric onset. The Orphanet database contains information on 6172 unique rare diseases. Under-representation of rare diseases in hospital healthcare coding systems leads to a paucity of rare disease epidemiological data required for healthcare planning. Studies have cited variable incidence rates for rare disease, however the burden of rare diseases to healthcare services still remains unclear. This study represents a thorough effort to identify the percentage of child mortality and paediatric bed usage attributable to rare diseases in the Republic of Ireland, thus addressing a major gap in the rare disease field. Methods Retrospective analysis of paediatric death registration details for the Republic of Ireland in the 11-year period 2006–2016 from the National Paediatric Mortality Register. Data was subcategorised as Neonatal (0–28 days), Post Neonatal (29 days < 1 year) and older (1–14 years). Bed usage data (ICD-10 code, narrative and usage) of paediatric inpatients who died during hospitalisation from January 2015 to December 2016 was extracted from the National Quality Assurance Improvement System of in-patient data. Orphacodes were assigned to rare disease cases from ICD-10 codes or diagnostic narrative of both datasets. Results There were 4044 deaths registered from 2006–2016, aged < 15 years, of these 2368 (58.6%) had an underlying rare disease. Stratifying by age group; 55.6% (1140/2050) of neonatal deaths had a rare disease, 57.8% (450/778) post-neonatal, and 64% (778/1216) of children aged 1–14 years. Mortality coding using ICD-10 codes identified 42% of rare disease cases with the remainder identified using death certificate narrative records. Rare disease patients occupied 87% of bed days used by children < 15 years who died during hospitalisation from January 2015 to December 2016. Conclusion Additional routine rare disease coding is necessary to identify rare diseases within Irish healthcare systems to enable better healthcare planning. Rare disease patients are overrepresented in paediatric mortality statistics and in-patient length of stay during hospital admission prior to death.

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Section: Introductionmentioning

confidence: 75%

A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland

Gunne

McGarvey²,

Hamilton³

et al. 2020

Orphanet J Rare Dis

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“…This might be due to chance as the study population was limited. Alternatively, it may also be a true finding as infants and children with genetic diseases require frequent hospital admissions in the first few years [29] but once they survive this critical period, less hospital-based visits are required. Furthermore, selection bias might explain the biphasic age distribution.…”

Section: Infections and Immunization Statusmentioning

confidence: 99%

Asylum-Seeking Children with Medical Complexity and Rare Diseases in a Tertiary Hospital in Switzerland

Buser

Brandenberger

Gmünder

et al. 2020

J Immigrant Minority Health

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The aim of this study was to assess the characteristics of asylum-seeking children with medical complexity visiting a tertiary care hospital in Switzerland, detailing their underlying medical conditions and management. Asylum-seeking patients with frequent visits between January 2016 and December 2017 were identified using administrative and electronic health records. Of 462 patients, 19 (4%) fulfilled the inclusion criteria with 811 (45%) visits. The age of the 19 patients ranged from 0 to 16.7 years (median of 7 years) with two main age groups identified: < 2 years and > 12 years. Nine (47%) patients originated from Syria. A total of 34/811(4%) visits were hospital admissions, 66/811 (8%) emergency department visits and 320/811(39%) outpatient department visits. In children < 2 years genetic diseases (5/8; 63%) and nutritional problems (6/8; 75%) were most common; in adolescents, orthopedic diseases (4/8; 50%) and mental health problems (4/8; 50%). Asylum-seeking children with medical complexity represent a small but important group of patients requiring frequent medical consultations. The high proportion of young patients with genetic diseases and severe nutritional problems suggests that new strategies are required in the management of this specific group of asylum-seeking children. This could be achieved by improved co-ordination between hospital and non-hospital care exploring options for integrated care.

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“…Individually rare genetic conditions are a collectively important cause of severe paediatric morbidity and mortality [2,3]. In children with suspected genetic disorders who remain undiagnosed after an initial assessment, whole exome sequencing (WES) and whole genome sequencing (WGS) can increase the absolute yield of primary diagnostic findings to 30-50% [4][5][6][7][8][9].…”

Section: Improving Quality Of Care Through Molecular Diagnostics and mentioning

confidence: 99%

Precision Child Health: an Emerging Paradigm for Paediatric Quality and Safety

Costain

Cohn

Malkin

2020

Curr Treat Options Peds

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Purpose of Review Precision child health (PCH) is an emerging branch of precision medicine that focuses on the unique needs of the paediatric population. A PCH approach has the potential to enhance both quality of care and patient safety. Genome-wide sequencing can be used as a specific exemplar to showcase current opportunities and forecast future developments. Recent Findings Information gained from genome-wide sequencing can increase awareness of common and rare medical complications. Care provided to children and their families may then shift from reactive to proactive. Pertinent categories of results from genetic testing include primary diagnostic findings, genetic modifiers of disease expression, and secondary findings. In addition, an individual's unifying genetic diagnosis, disease subtype, and pharmacogenomic profile can all inform drug selection and treatment outcome. Recent lessons learned from the integration of genome-wide sequencing into the clinic may be generalizable to other "big data"-driven interventions. Summary Quality of care and patient safety are key targets of a PCH approach. The genomic revolution offers insights into this proposed new paradigm for healthcare delivery by showcasing the value of accurate diagnosis, disease subtyping with molecular markers, and awareness of individual-or family-specific risk factors for adverse outcomes.

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Estimating the burden and economic impact of pediatric genetic disease

Cited by 65 publications

References 25 publications

A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland

A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland

Asylum-Seeking Children with Medical Complexity and Rare Diseases in a Tertiary Hospital in Switzerland

Precision Child Health: an Emerging Paradigm for Paediatric Quality and Safety

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