FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3159782012> ?p ?o ?g. }

• W3159782012 endingPage "1501" @default.
• W3159782012 startingPage "1491" @default.
• W3159782012 abstract "Genomic testing is becoming routine for diagnosing rare childhood genetic disease. Evidence underlying sustainable implementation is limited, focusing on short-term endpoints such as diagnostic yield, unable to fully characterize patient and family valued outcomes. Although genomic testing is becoming widely available, evidentiary and outcomes uncertainty persist as key challenges for implementation. We examine whether the current evidence base reflects public tolerance for uncertainty for genomics to diagnose rare childhood genetic disease. We conducted focus groups with general population parents in Vancouver, Canada, and Oxford, United Kingdom, to discuss expectations and concerns related to genomic testing to diagnose rare childhood genetic disease. Applying a purposive sampling technique, recruitment continued until thematic saturation was reached. Transcripts were analysed using thematic analysis. Thirty-three parents participated across four focus groups. Participants valued causal diagnoses alongside management strategies to improve patient health and wellbeing. Further, participants valued expanding the evidence base to reduce evidentiary uncertainty while ensuring security of information. Willingness to pay out of pocket for testing reflected perceived familial health benefit. Diagnostic yield fails to fully capture valued outcomes, and efforts to resolve uncertainty better reflect public priorities. Evaluations of genomic testing that fully integrate valued endpoints are necessary to ensure consistency with best practices and public willingness to accept the uncertain familial benefit." @default.
• W3159782012 created "2021-05-10" @default.
• W3159782012 creator A5023395734 @default.
• W3159782012 creator A5026651024 @default.
• W3159782012 creator A5030232219 @default.
• W3159782012 creator A5039287543 @default.
• W3159782012 creator A5043733417 @default.
• W3159782012 creator A5050267015 @default.
• W3159782012 creator A5051852805 @default.
• W3159782012 creator A5054534850 @default.
• W3159782012 creator A5056372307 @default.
• W3159782012 creator A5059399152 @default.
• W3159782012 creator A5061657335 @default.
• W3159782012 creator A5063188212 @default.
• W3159782012 creator A5068472824 @default.
• W3159782012 creator A5073231762 @default.
• W3159782012 date "2021-04-26" @default.
• W3159782012 modified "2023-10-17" @default.
• W3159782012 title "Toward the diagnosis of rare childhood genetic diseases: what do parents value most?" @default.
• W3159782012 cites W1504645149 @default.
• W3159782012 cites W1562592376 @default.
• W3159782012 cites W1973154957 @default.
• W3159782012 cites W1992041772 @default.
• W3159782012 cites W1999338264 @default.
• W3159782012 cites W2052583373 @default.
• W3159782012 cites W2082083588 @default.
• W3159782012 cites W2138664283 @default.
• W3159782012 cites W2148370712 @default.
• W3159782012 cites W2163929180 @default.
• W3159782012 cites W2165800754 @default.
• W3159782012 cites W2171380954 @default.
• W3159782012 cites W2286007596 @default.
• W3159782012 cites W2291038846 @default.
• W3159782012 cites W2310856158 @default.
• W3159782012 cites W2339745526 @default.
• W3159782012 cites W2339769955 @default.
• W3159782012 cites W2528074118 @default.
• W3159782012 cites W2552650277 @default.
• W3159782012 cites W2571151761 @default.
• W3159782012 cites W2737664671 @default.
• W3159782012 cites W2744606261 @default.
• W3159782012 cites W2745065704 @default.
• W3159782012 cites W2751841665 @default.
• W3159782012 cites W2799324424 @default.
• W3159782012 cites W2867479179 @default.
• W3159782012 cites W2885318744 @default.
• W3159782012 cites W2888424600 @default.
• W3159782012 cites W2890454147 @default.
• W3159782012 cites W2894801290 @default.
• W3159782012 cites W2921313412 @default.
• W3159782012 cites W2933637349 @default.
• W3159782012 cites W2953257507 @default.
• W3159782012 cites W2953779018 @default.
• W3159782012 cites W2970142802 @default.
• W3159782012 cites W2972254478 @default.
• W3159782012 cites W2994844251 @default.
• W3159782012 cites W3003646375 @default.
• W3159782012 cites W3005131483 @default.
• W3159782012 cites W3013074952 @default.
• W3159782012 cites W3023104365 @default.
• W3159782012 cites W3024052060 @default.
• W3159782012 cites W3036578064 @default.
• W3159782012 cites W3047156590 @default.
• W3159782012 cites W3073938191 @default.
• W3159782012 doi "https://doi.org/10.1038/s41431-021-00882-1" @default.
• W3159782012 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8484431" @default.
• W3159782012 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33903739" @default.
• W3159782012 hasPublicationYear "2021" @default.
• W3159782012 type Work @default.
• W3159782012 sameAs 3159782012 @default.
• W3159782012 citedByCount "19" @default.
• W3159782012 countsByYear W31597820122021 @default.
• W3159782012 countsByYear W31597820122022 @default.
• W3159782012 countsByYear W31597820122023 @default.
• W3159782012 crossrefType "journal-article" @default.
• W3159782012 hasAuthorship W3159782012A5023395734 @default.
• W3159782012 hasAuthorship W3159782012A5026651024 @default.
• W3159782012 hasAuthorship W3159782012A5030232219 @default.
• W3159782012 hasAuthorship W3159782012A5039287543 @default.
• W3159782012 hasAuthorship W3159782012A5043733417 @default.
• W3159782012 hasAuthorship W3159782012A5050267015 @default.
• W3159782012 hasAuthorship W3159782012A5051852805 @default.
• W3159782012 hasAuthorship W3159782012A5054534850 @default.
• W3159782012 hasAuthorship W3159782012A5056372307 @default.
• W3159782012 hasAuthorship W3159782012A5059399152 @default.
• W3159782012 hasAuthorship W3159782012A5061657335 @default.
• W3159782012 hasAuthorship W3159782012A5063188212 @default.
• W3159782012 hasAuthorship W3159782012A5068472824 @default.
• W3159782012 hasAuthorship W3159782012A5073231762 @default.
• W3159782012 hasBestOaLocation W31597820121 @default.
• W3159782012 hasConcept C126322002 @default.
• W3159782012 hasConcept C138816342 @default.
• W3159782012 hasConcept C142724271 @default.
• W3159782012 hasConcept C144024400 @default.
• W3159782012 hasConcept C15744967 @default.
• W3159782012 hasConcept C190248442 @default.
• W3159782012 hasConcept C2779134260 @default.
• W3159782012 hasConcept C2780673598 @default.

• next