FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2055450011> ?p ?o ?g. }

• W2055450011 endingPage "662" @default.
• W2055450011 startingPage "654" @default.
• W2055450011 abstract "Abstract The purpose of this study was to investigate how the American College of Medical Genetics and Genomics (ACMG) March 2013 recommendations for reporting incidental findings (IFs) have influenced current practices of genetic counselors involved in utilizing whole exome sequencing (WES) for clinical diagnosis. An online survey was sent to all members of the National Society of Genetic Counselors; members were eligible to participate if they currently offered WES for clinical diagnosis. Forty‐six respondents completed the survey of whom 34 were in practice prior to the March 2013 ACMG recommendations. Half of respondents ( N = 19, 54.9 %) in practice prior to March 2013 reported that the ACMG recommendations have had a significant impact on the content of their counseling sessions. Approximately half of respondents ( N = 21, 45.5 %) report all IFs, regardless of patient age, while one third ( N = 14, 30.4 %) consider factors such as age and parent preference in reporting IFs. Approximately 40 % ( N = 18) of respondents reported that the testing laboratory's policy for returning IFs has an influence on their choice of laboratory; of those, 72.2 % ( N = 13) reported that the option to opt out of receiving reports of IFs has a significant influence on their choice of laboratory. A majority of respondents ( N = 43, 93.5 %) found that most patients want to receive reports of IFs. However, respondents report there are patients who wish to decline receiving this information. This study querying genetic counselors identified benefits and challenges that the 2013 ACMG recommendations elicited. Some challenges, such as not having the option to opt out of IFs, have been addressed by the ACMG's most recent updates to their recommendations. Further investigation into larger and more inclusive provider populations as well as patient populations will be valuable for the ongoing discussion surrounding IFs in WES." @default.
• W2055450011 created "2016-06-24" @default.
• W2055450011 creator A5015769608 @default.
• W2055450011 creator A5025738262 @default.
• W2055450011 creator A5067760145 @default.
• W2055450011 creator A5083884446 @default.
• W2055450011 date "2014-11-18" @default.
• W2055450011 modified "2023-09-25" @default.
• W2055450011 title "Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling" @default.
• W2055450011 cites W1561350590 @default.
• W2055450011 cites W1985181405 @default.
• W2055450011 cites W2004183037 @default.
• W2055450011 cites W2012372919 @default.
• W2055450011 cites W2021123830 @default.
• W2055450011 cites W2024167463 @default.
• W2055450011 cites W2024636460 @default.
• W2055450011 cites W2043182378 @default.
• W2055450011 cites W2051744393 @default.
• W2055450011 cites W2062140150 @default.
• W2055450011 cites W2063091609 @default.
• W2055450011 cites W2069663659 @default.
• W2055450011 cites W2070457896 @default.
• W2055450011 cites W2136715053 @default.
• W2055450011 cites W2145922766 @default.
• W2055450011 cites W2157967923 @default.
• W2055450011 cites W2168049727 @default.
• W2055450011 cites W4210963813 @default.
• W2055450011 doi "https://doi.org/10.1007/s10897-014-9794-4" @default.
• W2055450011 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25403901" @default.
• W2055450011 hasPublicationYear "2014" @default.
• W2055450011 type Work @default.
• W2055450011 sameAs 2055450011 @default.
• W2055450011 citedByCount "28" @default.
• W2055450011 countsByYear W20554500112015 @default.
• W2055450011 countsByYear W20554500112016 @default.
• W2055450011 countsByYear W20554500112017 @default.
• W2055450011 countsByYear W20554500112018 @default.
• W2055450011 countsByYear W20554500112019 @default.
• W2055450011 countsByYear W20554500112020 @default.
• W2055450011 countsByYear W20554500112022 @default.
• W2055450011 countsByYear W20554500112023 @default.
• W2055450011 crossrefType "journal-article" @default.
• W2055450011 hasAuthorship W2055450011A5015769608 @default.
• W2055450011 hasAuthorship W2055450011A5025738262 @default.
• W2055450011 hasAuthorship W2055450011A5067760145 @default.
• W2055450011 hasAuthorship W2055450011A5083884446 @default.
• W2055450011 hasConcept C104317684 @default.
• W2055450011 hasConcept C126322002 @default.
• W2055450011 hasConcept C16671776 @default.
• W2055450011 hasConcept C187212893 @default.
• W2055450011 hasConcept C2780673598 @default.
• W2055450011 hasConcept C501734568 @default.
• W2055450011 hasConcept C512399662 @default.
• W2055450011 hasConcept C54355233 @default.
• W2055450011 hasConcept C64474127 @default.
• W2055450011 hasConcept C71924100 @default.
• W2055450011 hasConcept C80227256 @default.
• W2055450011 hasConcept C86803240 @default.
• W2055450011 hasConceptScore W2055450011C104317684 @default.
• W2055450011 hasConceptScore W2055450011C126322002 @default.
• W2055450011 hasConceptScore W2055450011C16671776 @default.
• W2055450011 hasConceptScore W2055450011C187212893 @default.
• W2055450011 hasConceptScore W2055450011C2780673598 @default.
• W2055450011 hasConceptScore W2055450011C501734568 @default.
• W2055450011 hasConceptScore W2055450011C512399662 @default.
• W2055450011 hasConceptScore W2055450011C54355233 @default.
• W2055450011 hasConceptScore W2055450011C64474127 @default.
• W2055450011 hasConceptScore W2055450011C71924100 @default.
• W2055450011 hasConceptScore W2055450011C80227256 @default.
• W2055450011 hasConceptScore W2055450011C86803240 @default.
• W2055450011 hasIssue "4" @default.
• W2055450011 hasLocation W20554500111 @default.
• W2055450011 hasLocation W20554500112 @default.
• W2055450011 hasOpenAccess W2055450011 @default.
• W2055450011 hasPrimaryLocation W20554500111 @default.
• W2055450011 hasRelatedWork W1142878356 @default.
• W2055450011 hasRelatedWork W2029316000 @default.
• W2055450011 hasRelatedWork W2042348345 @default.
• W2055450011 hasRelatedWork W2050676728 @default.
• W2055450011 hasRelatedWork W2070646342 @default.
• W2055450011 hasRelatedWork W2084095459 @default.
• W2055450011 hasRelatedWork W2131306875 @default.
• W2055450011 hasRelatedWork W4207019024 @default.
• W2055450011 hasRelatedWork W4284880964 @default.
• W2055450011 hasRelatedWork W4386564729 @default.
• W2055450011 hasVolume "24" @default.
• W2055450011 isParatext "false" @default.
• W2055450011 isRetracted "false" @default.
• W2055450011 magId "2055450011" @default.
• W2055450011 workType "article" @default.