FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2154055506> ?p ?o ?g. }

• W2154055506 endingPage "18" @default.
• W2154055506 startingPage "3" @default.
• W2154055506 abstract "While neurologists encountered the social and ethical concerns associated with diagnosing incurable genetic diseases long before direct DNA testing became available, the increased availability of these tests has magnified these concerns. Most research has focused on the implications of testing asymptomatic individuals; research on the experience of patients with symptoms of heritable conditions is lacking, leaving an ambiguity about their needs with regard to genetic counseling, whether it involves professional counselors or physicians. Here, we investigate the meaning that patients with chorea and ataxia symptoms ascribe to potential or actual DNA testing and explore how patients diagnosed with Huntington's disease or genetic ataxia experience the social, economic and familial implications of a genetic diagnosis. Data come from 27 neurology consultations and 27 in-depth interviews with patients. We found that most view an actual or potential genetic diagnosis as providing relief from uncertainty about their health status. While for some a genetic test can be very similar to other types of procedures aimed at confirming or ruling out a diagnosis, for others (e.g. early symptomatic patients), the implications of diagnostic genetic testing are similar and sometimes amplified when compared with those of predictive testing. Through a case study approach, we identify several expectations and adverse reactions. These include unrealistic hopes that a test will yield a diagnosis leading to treatment, uncertainty about the meaning and reliability of a positive test, and distress upon learning that one has a lethal genetic condition that has already progressed. Even if molecular genetic testing is similar in many respects to prior diagnostic procedures, the many ethical and social issues that have been identified in the context of predictive testing also apply to diagnostic testing. At the same time, concerns specific to symptomatic patients should be considered." @default.
• W2154055506 created "2016-06-24" @default.
• W2154055506 creator A5000730021 @default.
• W2154055506 creator A5016814295 @default.
• W2154055506 creator A5067963905 @default.
• W2154055506 date "2009-02-19" @default.
• W2154055506 modified "2023-09-26" @default.
• W2154055506 title "Diagnostic genetic testing for a fatal illness: the experience of patients with movement disorders" @default.
• W2154055506 cites W1938315359 @default.
• W2154055506 cites W1964585844 @default.
• W2154055506 cites W1973475727 @default.
• W2154055506 cites W1977059718 @default.
• W2154055506 cites W1983292283 @default.
• W2154055506 cites W1986985962 @default.
• W2154055506 cites W1989296618 @default.
• W2154055506 cites W1990163340 @default.
• W2154055506 cites W1992788369 @default.
• W2154055506 cites W2000918342 @default.
• W2154055506 cites W2004840442 @default.
• W2154055506 cites W2014276035 @default.
• W2154055506 cites W2016693005 @default.
• W2154055506 cites W2024969550 @default.
• W2154055506 cites W2026517493 @default.
• W2154055506 cites W2028837934 @default.
• W2154055506 cites W2031882618 @default.
• W2154055506 cites W2035059460 @default.
• W2154055506 cites W2042592620 @default.
• W2154055506 cites W2049470242 @default.
• W2154055506 cites W2055260606 @default.
• W2154055506 cites W2092696277 @default.
• W2154055506 cites W2123766727 @default.
• W2154055506 cites W2132661220 @default.
• W2154055506 cites W2153054139 @default.
• W2154055506 cites W2165747963 @default.
• W2154055506 cites W2492362577 @default.
• W2154055506 cites W2772546281 @default.
• W2154055506 cites W2007769232 @default.
• W2154055506 doi "https://doi.org/10.1080/14636770802670225" @default.
• W2154055506 hasPublicationYear "2009" @default.
• W2154055506 type Work @default.
• W2154055506 sameAs 2154055506 @default.
• W2154055506 citedByCount "1" @default.
• W2154055506 countsByYear W21540555062015 @default.
• W2154055506 crossrefType "journal-article" @default.
• W2154055506 hasAuthorship W2154055506A5000730021 @default.
• W2154055506 hasAuthorship W2154055506A5016814295 @default.
• W2154055506 hasAuthorship W2154055506A5067963905 @default.
• W2154055506 hasConcept C118552586 @default.
• W2154055506 hasConcept C126322002 @default.
• W2154055506 hasConcept C134534832 @default.
• W2154055506 hasConcept C139265228 @default.
• W2154055506 hasConcept C142724271 @default.
• W2154055506 hasConcept C151730666 @default.
• W2154055506 hasConcept C15744967 @default.
• W2154055506 hasConcept C16568411 @default.
• W2154055506 hasConcept C2777267654 @default.
• W2154055506 hasConcept C2778868616 @default.
• W2154055506 hasConcept C2779134260 @default.
• W2154055506 hasConcept C2780673598 @default.
• W2154055506 hasConcept C2780876879 @default.
• W2154055506 hasConcept C2780906641 @default.
• W2154055506 hasConcept C2994273702 @default.
• W2154055506 hasConcept C512399662 @default.
• W2154055506 hasConcept C542102704 @default.
• W2154055506 hasConcept C54355233 @default.
• W2154055506 hasConcept C70410870 @default.
• W2154055506 hasConcept C71924100 @default.
• W2154055506 hasConcept C80227256 @default.
• W2154055506 hasConcept C86803240 @default.
• W2154055506 hasConceptScore W2154055506C118552586 @default.
• W2154055506 hasConceptScore W2154055506C126322002 @default.
• W2154055506 hasConceptScore W2154055506C134534832 @default.
• W2154055506 hasConceptScore W2154055506C139265228 @default.
• W2154055506 hasConceptScore W2154055506C142724271 @default.
• W2154055506 hasConceptScore W2154055506C151730666 @default.
• W2154055506 hasConceptScore W2154055506C15744967 @default.
• W2154055506 hasConceptScore W2154055506C16568411 @default.
• W2154055506 hasConceptScore W2154055506C2777267654 @default.
• W2154055506 hasConceptScore W2154055506C2778868616 @default.
• W2154055506 hasConceptScore W2154055506C2779134260 @default.
• W2154055506 hasConceptScore W2154055506C2780673598 @default.
• W2154055506 hasConceptScore W2154055506C2780876879 @default.
• W2154055506 hasConceptScore W2154055506C2780906641 @default.
• W2154055506 hasConceptScore W2154055506C2994273702 @default.
• W2154055506 hasConceptScore W2154055506C512399662 @default.
• W2154055506 hasConceptScore W2154055506C542102704 @default.
• W2154055506 hasConceptScore W2154055506C54355233 @default.
• W2154055506 hasConceptScore W2154055506C70410870 @default.
• W2154055506 hasConceptScore W2154055506C71924100 @default.
• W2154055506 hasConceptScore W2154055506C80227256 @default.
• W2154055506 hasConceptScore W2154055506C86803240 @default.
• W2154055506 hasIssue "1" @default.
• W2154055506 hasLocation W21540555061 @default.
• W2154055506 hasOpenAccess W2154055506 @default.
• W2154055506 hasPrimaryLocation W21540555061 @default.
• W2154055506 hasRelatedWork W127195255 @default.
• W2154055506 hasRelatedWork W1994303591 @default.
• W2154055506 hasRelatedWork W2003039482 @default.

• next