Journal of Genetic Counseling

, Volume 22, Issue 4, pp 437–447 | Cite as

What Counts as Effective Genetic Counselling for Presymptomatic Testing in Late-Onset Disorders? A Study of the Consultand’s Perspective

  • Lídia Guimarães
  • Jorge Sequeiros
  • Heather Skirton
  • Milena Paneque
Original Research

Abstract

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.

Keywords

Quality assessment Consultand’s perspective Genetic testing Neurodegenerative disorders Huntington disease Spinocerebellar ataxia SCA Familial amyloid polyneuropathy type 1 FAP ATTRV30M 

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Copyright information

© National Society of Genetic Counselors, Inc. 2013

Authors and Affiliations

  • Lídia Guimarães
    • 1
  • Jorge Sequeiros
    • 1
    • 2
  • Heather Skirton
    • 3
  • Milena Paneque
    • 1
    • 2
    • 3
  1. 1.ICBASUniversidade do PortoPortoPortugal
  2. 2.UnIGENe and Centre for Predictive and Preventive Genetics (CGPP), IBMC—Institute for Molecular and Cell BiologyUniversidade do PortoPortoPortugal
  3. 3.School of Nursing and MidwiferyPlymouth UniversityPlymouthUK

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