What Counts As Effective Genetic Counselling for Presymptomatic Testing in Late-onset Disorders? A Study of the Consultand's Perspective

Overview

Journal J Genet Couns

Publisher Wiley

Specialty Genetics

Date 2013 Jan 8

PMID 23292684

Citations 16

Authors

Lidia Guimaraes

Jorge Sequeiros

Heather Skirton

Milena Paneque

Affiliations

Soon will be listed here.

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.

Citing Articles

Incorporating Genetic Testing Into the Care of Patients With Amyotrophic Lateral Sclerosis/Frontotemporal Degeneration Spectrum Disorders.

Chambers C, Lichten L, Crook A, Uhlmann W, Dratch L Neurol Clin Pract. 2023; 13(5):e200201.

PMID: 37736067 PMC: 10511270. DOI: 10.1212/CPJ.0000000000200201.

Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.

Crook A, Jacobs C, Newton-John T, OShea R, McEwen A J Neurol. 2021; 269(2):676-692.

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The Contribution of the Reciprocal-Engagement Model as a Theoretical Framework of a Portuguese Scale for Quality Assessment of Genetic Counseling.

Costa C, Lemos M, Paneque M J Genet Couns. 2018; 27(4):1005-1007.

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Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe.

Paneque M, Serra-Juhe C, Pestoff R, Cordier C, Silva J, Moldovan R Eur J Hum Genet. 2017; 25(8):918-923.

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Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy.

Schmidt H, Barroso F, Gonzalez-Duarte A, Conceicao I, Obici L, Keohane D Muscle Nerve. 2016; 54(3):353-60.

PMID: 27273296 PMC: 5113802. DOI: 10.1002/mus.25210.

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