The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.
Identifieur interne : 000214 ( PubMed/Checkpoint ); précédent : 000213; suivant : 000215The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.
Auteurs : Caroline E. Walker [Australie] ; Trinity Mahede [Australie] ; Geoff Davis [Australie] ; Laura J. Miller [Australie] ; Jennifer Girschik [Australie] ; Kate Brameld [Australie] ; Wenxing Sun [Australie] ; Ana Rath [France] ; Ségolène Aymé [France] ; Stephen R. Zubrick [Australie] ; Gareth S. Baynam [Australie] ; Caron Molster [Australie] ; Hugh J S. Dawkins [Australie] ; Tarun S. Weeramanthri [Australie]Source :
- Genetics in medicine : official journal of the American College of Medical Genetics [ 1530-0366 ] ; 2017.
Abstract
It has been argued that rare diseases should be recognized as a public health priority. However, there is a shortage of epidemiological data describing the true burden of rare diseases. This study investigated hospital service use to provide a better understanding of the collective health and economic impacts of rare diseases.
DOI: 10.1038/gim.2016.143
PubMed: 27657686
Affiliations:
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<front><div type="abstract" xml:lang="en">It has been argued that rare diseases should be recognized as a public health priority. However, there is a shortage of epidemiological data describing the true burden of rare diseases. This study investigated hospital service use to provide a better understanding of the collective health and economic impacts of rare diseases.</div>
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<pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">27657686</PMID>
<DateCreated><Year>2016</Year>
<Month>09</Month>
<Day>22</Day>
</DateCreated>
<DateRevised><Year>2017</Year>
<Month>06</Month>
<Day>04</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1530-0366</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>19</Volume>
<Issue>5</Issue>
<PubDate><Year>2017</Year>
<Month>May</Month>
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<Title>Genetics in medicine : official journal of the American College of Medical Genetics</Title>
<ISOAbbreviation>Genet. Med.</ISOAbbreviation>
</Journal>
<ArticleTitle>The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.</ArticleTitle>
<Pagination><MedlinePgn>546-552</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1038/gim.2016.143</ELocationID>
<Abstract><AbstractText Label="PURPOSE" NlmCategory="OBJECTIVE">It has been argued that rare diseases should be recognized as a public health priority. However, there is a shortage of epidemiological data describing the true burden of rare diseases. This study investigated hospital service use to provide a better understanding of the collective health and economic impacts of rare diseases.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">Novel methodology was developed using a carefully constructed set of diagnostic codes, a selection of rare disease cohorts from hospital administrative data, and advanced data-linkage technologies. Outcomes included health-service use and hospital admission costs.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">In 2010, cohort members who were alive represented approximately 2.0% of the Western Australian population. The cohort accounted for 4.6% of people discharged from hospital and 9.9% of hospital discharges, and it had a greater average length of stay than the general population. The total cost of hospital discharges for the cohort represented 10.5% of 2010 state inpatient hospital costs.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">This population-based cohort study provides strong new evidence of a marked disparity between the proportion of the population with rare diseases and their combined health-system costs. The methodology will inform future rare-disease studies, and the evidence will guide government strategies for managing the service needs of people living with rare diseases.Genet Med advance online publication 22 September 2016.</AbstractText>
</Abstract>
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<ForeName>Caroline E</ForeName>
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<AffiliationInfo><Affiliation>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</Affiliation>
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<ForeName>Geoff</ForeName>
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</AffiliationInfo>
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</AffiliationInfo>
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</AffiliationInfo>
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<ForeName>Stephen R</ForeName>
<Initials>SR</Initials>
<AffiliationInfo><Affiliation>Faculty of Education, University of Western Australia, Perth, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Telethon Kids Institute, Perth, Australia.</Affiliation>
</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Baynam</LastName>
<ForeName>Gareth S</ForeName>
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<AffiliationInfo><Affiliation>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</Affiliation>
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<AffiliationInfo><Affiliation>Telethon Kids Institute, Perth, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Genetic Services WA, King Edward Memorial Hospital, Perth, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>School of Paediatrics and Child Health, University of Western Australia, Perth, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Institute of Immunology and Infectious Diseases, Murdoch University, Perth, Australia.</Affiliation>
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<AffiliationInfo><Affiliation>Centre for Population Health Research, Curtin University, Perth, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Centre for Comparative Genomics, Murdoch University, Perth, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Weeramanthri</LastName>
<ForeName>Tarun S</ForeName>
<Initials>TS</Initials>
<AffiliationInfo><Affiliation>Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</Affiliation>
</AffiliationInfo>
</Author>
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<Language>eng</Language>
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<Month>09</Month>
<Day>22</Day>
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<MedlineTA>Genet Med</MedlineTA>
<NlmUniqueID>9815831</NlmUniqueID>
<ISSNLinking>1098-3600</ISSNLinking>
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<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year>
<Month>04</Month>
<Day>14</Day>
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<PubMedPubDate PubStatus="accepted"><Year>2016</Year>
<Month>08</Month>
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<ArticleIdList><ArticleId IdType="pubmed">27657686</ArticleId>
<ArticleId IdType="pii">gim2016143</ArticleId>
<ArticleId IdType="doi">10.1038/gim.2016.143</ArticleId>
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<affiliations><list><country><li>Australie</li>
<li>France</li>
</country>
<region><li>Île-de-France</li>
</region>
<settlement><li>Paris</li>
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<tree><country name="Australie"><noRegion><name sortKey="Walker, Caroline E" sort="Walker, Caroline E" uniqKey="Walker C" first="Caroline E" last="Walker">Caroline E. Walker</name>
</noRegion>
<name sortKey="Baynam, Gareth S" sort="Baynam, Gareth S" uniqKey="Baynam G" first="Gareth S" last="Baynam">Gareth S. Baynam</name>
<name sortKey="Brameld, Kate" sort="Brameld, Kate" uniqKey="Brameld K" first="Kate" last="Brameld">Kate Brameld</name>
<name sortKey="Davis, Geoff" sort="Davis, Geoff" uniqKey="Davis G" first="Geoff" last="Davis">Geoff Davis</name>
<name sortKey="Dawkins, Hugh J S" sort="Dawkins, Hugh J S" uniqKey="Dawkins H" first="Hugh J S" last="Dawkins">Hugh J S. Dawkins</name>
<name sortKey="Girschik, Jennifer" sort="Girschik, Jennifer" uniqKey="Girschik J" first="Jennifer" last="Girschik">Jennifer Girschik</name>
<name sortKey="Mahede, Trinity" sort="Mahede, Trinity" uniqKey="Mahede T" first="Trinity" last="Mahede">Trinity Mahede</name>
<name sortKey="Miller, Laura J" sort="Miller, Laura J" uniqKey="Miller L" first="Laura J" last="Miller">Laura J. Miller</name>
<name sortKey="Molster, Caron" sort="Molster, Caron" uniqKey="Molster C" first="Caron" last="Molster">Caron Molster</name>
<name sortKey="Sun, Wenxing" sort="Sun, Wenxing" uniqKey="Sun W" first="Wenxing" last="Sun">Wenxing Sun</name>
<name sortKey="Weeramanthri, Tarun S" sort="Weeramanthri, Tarun S" uniqKey="Weeramanthri T" first="Tarun S" last="Weeramanthri">Tarun S. Weeramanthri</name>
<name sortKey="Zubrick, Stephen R" sort="Zubrick, Stephen R" uniqKey="Zubrick S" first="Stephen R" last="Zubrick">Stephen R. Zubrick</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Rath, Ana" sort="Rath, Ana" uniqKey="Rath A" first="Ana" last="Rath">Ana Rath</name>
</region>
<name sortKey="Ayme, Segolene" sort="Ayme, Segolene" uniqKey="Ayme S" first="Ségolène" last="Aymé">Ségolène Aymé</name>
</country>
</tree>
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