Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result.
Patients' perceptions of inconclusive results have been previously investigated in cancer genetics. The differences in how patients recall and interpret an uninformative test result compared to a known pathogenic result can affect medical decisions post disclosure. However, there is little to no dat...
| Published in: | Journal of Genetic Counseling Vol. 26; no. 1; pp. 150 - 159 |
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| Main Authors: | , , , , |
| Format: | research tables/charts Journal Article |
| Published: |
Wiley-Blackwell
Feb2017
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| Online Access: | View this record in EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=120895472&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 120895472 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10597700 41A jtl: Journal of Genetic Counseling issn: 10597700 maglogo: N pubinfo: dt: Feb2017 vid: 26 iid: 1 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 120895472 120895472 120895472 10.1007/s10897-016-9991-4 120895472 ppf: 150 ppct: 9 formats: fmt: @attributes: type: P tig: atl: Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result. aug: au: Predham, Sarah Hathaway, Julie Hulait, Gurdip Arbour, Laura Lehman, Anna affil: Department of Medical Genetics , University of British Columbia , Vancouver Canada sug: subj: Genetic Screening Psychosocial Factors Memory Decision Making, Patient Long QT Syndrome Human Interviews Heart Defects, Congenital Diagnosis Psychosocial Factors Male Female Patient Attitudes Attitude to Risk Male Female ab: Patients' perceptions of inconclusive results have been previously investigated in cancer genetics. The differences in how patients recall and interpret an uninformative test result compared to a known pathogenic result can affect medical decisions post disclosure. However, there is little to no data available on patients' interpretation and perception of uninformative genetic results in inherited heart disease. We report the results of a qualitative analysis of 16 telephone interviews with participants who received a negative or a variant of unknown significance (VUS) result from Long QT syndrome (LQTS) genetic testing. Our results suggest that the type of result (negative versus VUS) does not affect recall, regardless of the reason for testing. When receiving a negative result, a majority of participants appropriately perceived no change in their diagnosis, while the perception of risk for family members varied. The majority of participants felt they maintained an awareness of their condition after the result disclosure, and that clinical follow-up was similar to that planned prior to the genetic test result. Further work is needed to determine if there are any differences between obtaining a VUS result versus a negative result in this population. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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