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A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial.
van den Heuvel, Lieke M; Hoedemaekers, Yvonne M; Baas, Annette F; Baars, Marieke J H; van Tintelen, J Peter; Smets, Ellen M A; Christiaans, Imke.
Afiliação
  • van den Heuvel LM; Department of Clinical Genetics, Amsterdam UMC, location AMC, Amsterdam, The Netherlands.
  • Hoedemaekers YM; Netherlands Heart Institute, Utrecht, The Netherlands.
  • Baas AF; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Baars MJH; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • van Tintelen JP; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Smets EMA; Department of Clinical Genetics, Amsterdam UMC, location AMC, Amsterdam, The Netherlands.
  • Christiaans I; Department of Clinical Genetics, Amsterdam UMC, location AMC, Amsterdam, The Netherlands.
Eur J Hum Genet ; 30(2): 203-210, 2022 02.
Article em En | MEDLINE | ID: mdl-34815540
ABSTRACT
If undetected, inherited cardiac conditions can lead to sudden cardiac death, while treatment options are available. Predictive DNA testing is therefore advised for at-risk relatives, and probands are currently asked to inform relatives about this. However, fewer than half of relatives attend genetic counselling. In this trial, we compared a tailored approach to informing relatives, in which probands were asked whether they preferred relatives to be informed by themselves or by the genetic counsellor, with current practice. Our primary outcome was uptake of genetic counselling in relatives in the first year after test result disclosure. Secondary outcomes were evaluation of the approach and impact on psychological/family functioning measured 3 (T1) and 9 (T2) months post-disclosure via telephone interviews and questionnaires. We included 96 probands; 482 relatives were eligible for counselling and genetic testing. We observed no significant difference in uptake of genetic counselling between the control (38%) and the intervention (37%) group (p = 0.973). Nor were there significant differences between groups in impact on family/psychological functioning. Significantly more probands in the tailored group were satisfied (p = 0.001) and felt supported (p = 0.003) by the approach, although they also felt somewhat coerced to inform relatives (p < 0.001) and perceived room for improvement (p < 0.001). To conclude, we observed no differences in uptake and impact on family/psychological functioning between the current and tailored approach, but probands in the tailored group more often felt satisfied. Further research on barriers to relatives attending genetic counselling and on how to optimize the provision of a tailored approach is needed.
Assuntos

Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 1_ASSA2030 / 2_ODS3 / 6_ODS3_enfermedades_notrasmisibles Base de dados: MEDLINE Assunto principal: Aconselhamento Genético / Cardiopatias Tipo de estudo: Clinical_trials / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Eur J Hum Genet Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 1_ASSA2030 / 2_ODS3 / 6_ODS3_enfermedades_notrasmisibles Base de dados: MEDLINE Assunto principal: Aconselhamento Genético / Cardiopatias Tipo de estudo: Clinical_trials / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Eur J Hum Genet Ano de publicação: 2022 Tipo de documento: Article