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DOI 10.1002/mgg3.464

Медицинская библиотека · Molecular genetics & genomic medicine · 2018

Role of the general practitioner in the care of BRCA1 and BRCA2 mutation carriers: General practitioner and patient perspectives.

Vande Perre Pierre, Toledano Daniel, Corsini Carole, Escriba Elsa, Laporte Marine, Bertet Helena, Yauy Kevin, Toledano Alain, Galibert Virginie, Baudry Karen, Clotet Lucie, Million Elodie, Picot Marie-Christine, Geneviève David, Pujol Pascal

СтатьяНаблюдательное исследованиеПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

BACKGROUND

General practitioners (GPs) have an increasing role in referring patients with putative mutation in BRCA1/2 genes for genetics consultation and for long-term follow-up of mutation carriers.

METHODS

We compared the expectations of the GPs' role according to BRCA1/2 mutation carriers and to GPs themselves.

RESULTS

Overall, 38% (58/152) of eligible GPs and 70% (176/252) of eligible patients were surveyed. Although 81% of GPs collected the family history, only 24% considered that they know criteria indicating genetics consultation and 39% sufficient knowledge of BRCA1/2 guidelines to answer patients' questions. Twelve% of GPs were aware of the French national guidelines. Among unsatisfied patients, 40% felt that their GP was able to answer (moderately, sufficiently, or completely) specific questions about BRCA1/2 care as compared with 81% in satisfied patients. Only 33% of GPs reported being informed directly by the geneticist about the patients' results. GPs' main expectations for their role in BRCA1/2 carrier care were psychological support and informing relatives about screening (72% and 71%, respectively), which contrasts with the perceptions of patients, who mainly requested medical advice for BRCA1/2-related care (51%).

CONCLUSION

There is an important need for GP training and enhancing interactions between GPs and geneticists to improve the GP's role in BRCA1/2 screening and management.

Для цитирования: Vande Perre Pierre, Toledano Daniel, Corsini Carole, Escriba Elsa, Laporte Marine, Bertet Helena, Yauy Kevin, Toledano Alain, Galibert Virginie, Baudry Karen, Clotet Lucie, Million Elodie, Picot Marie-Christine, Geneviève David, Pujol Pascal. Role of the general practitioner in the care of BRCA1 and BRCA2 mutation carriers: General practitioner and patient perspectives.. Molecular genetics & genomic medicine. 2018. DOI: 10.1002/mgg3.464.

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