Document Detail


What Counts as Effective Genetic Counselling for Presymptomatic Testing in Late-Onset Disorders? A Study of the Consultand's Perspective.
MedLine Citation:
PMID:  23292684     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Genetic counselling must be offered in the context of presymptomatic testing (PST) for severe late-onset diseases; however, effective genetic counselling is not well defined, and measurement tools that allow a systematic evaluation of genetic practice are still not available. The aims of this qualitative study were to (1) recognize relevant aspects across the whole process of genetic counselling in PST for late-onset neurodegenerative disorders that might indicate effective practice from the consultand's perspective; and (2) analyse aspects of current protocols of counselling that might be relevant for successful practice. We interviewed 22 consultands undergoing PST for late-onset neurological disorders (Huntington disease, spinocerebellar ataxias and familial amyloid polyneuropathy ATTRV30M) in the three major counselling services for these diseases in Portugal. The main themes emerging from the content analysis were (1) the consultand's general assessment of the PST process in genetic services; (2) appropriateness and adaptation of the protocol to the consultand's personal expectations and needs; and (3) consultand's experience of the decision-making process and the role of engagement and counselling skills of the counsellor. Participants also provided a set of recommendations and constructive criticisms relating to the length of the protocol, the time gap between consultations and the way results were delivered. These issues and the construction of the relationship between counsellor and counselee should be further investigated and used for the improvement of current protocols of counselling.
Authors:
Lídia Guimarães; Jorge Sequeiros; Heather Skirton; Milena Paneque
Related Documents :
17192844 - The end1 gene of schizosaccharomyces pombe coding for a dnase is identical with the pnu...
20940334 - The yeast mating-type switching mechanism: a memoir.
23860384 - Development of a magnetic electrochemical bar code array for point mutation detection i...
17510664 - Exploring genetic interactions and networks with yeast.
19119044 - Clinical significance of mefv mutations in ankylosing spondylitis.
2719624 - Genetic and environmental contributions to the covariance between occupational status, ...
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-7
Journal Detail:
Title:  Journal of genetic counseling     Volume:  -     ISSN:  1573-3599     ISO Abbreviation:  J Genet Couns     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-7     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9206865     Medline TA:  J Genet Couns     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
ICBAS, Universidade do Porto, Porto, Portugal.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Morphine hyperalgesia gated through microglia-mediated disruption of neuronal Cl? homeostasis.
Next Document:  Suppression of TPA-induced tumor cell invasion by sulfuretin via inhibition of NF-?B-dependent MMP-9...