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Eur J Hum Genet ; 27(8): 1186-1196, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30962500

RESUMO

Systemic healthcare issues and geographical challenges restrict women's access to BRCA1/2 testing to inform the use of tailored treatments for high-grade serous ovarian cancer. Consequently, BRCA1/2 testing in this population is low and improved testing pathways are urgently needed. This study aimed to determine the acceptability and feasibility of telephone genetic counselling (TGC) to facilitate treatment-focused BRCA1/2 testing in Australia for women with high-grade serous ovarian cancer. Women who received TGC were invited to complete a survey examining their experiences of the service. A cost analysis was conducted to compare the service to standard, in-person genetic counselling. One hundred and seven women responded (48% response rate); 8 had a BRCA1/2 variant affecting function. Geographical barriers prevented women from accessing genetic services in the past. All participants had a positive attitude towards testing, and regret following testing was minimal. While the impact of testing was greater for those with a positive test result, overall, genetic testing did not put the additional psychosocial burden on the participants. Participant's evaluations of the telephone interactions with the genetic counsellors were highly satisfactory. The service was also found to be cost-effective. This model of telephone genetic counselling was an acceptable and effective way to reduce barriers to BRCA1/2 testing for women with ovarian cancer.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Cistadenocarcinoma Seroso/genética , Aconselhamento Genético/métodos , Testes Genéticos/métodos , Neoplasias Ovarianas/genética , Idoso , Idoso de 80 Anos ou mais , Análise Custo-Benefício , Cistadenocarcinoma Seroso/diagnóstico , Feminino , Aconselhamento Genético/economia , Aconselhamento Genético/psicologia , Mutação em Linhagem Germinativa , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/diagnóstico , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Reprodutibilidade dos Testes , Telefone
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