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

Pierre Vande Perre (1) , Daniel Tolédano (2) , Carole Corsini (1) , Elsa Escriba (1) , Marine Laporte (1) , Héléna Bertet (3) , Kevin Yauy (1, 4) , Alain Toledano (5) , Virginie Galibert (1) , Karen Baudry (1) , Lucie Clotet (4) , Elodie Million (4) , Marie-Christine Picot (6) , David Geneviève (7) , Pascal Pujol (1, 4)

1 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
2 AP-HP - Hopital Saint-Louis [AP-HP]
3 CIC Montpellier
4 UM - Université de Montpellier
5 Hôpital Américain de Paris
6 PhyMedExp - Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046]
7 Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB)

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.

Mots clés: hereditary breast and ovarian cancer syndrome; genetic screening; BRCA2; general practitioners; BRCA1

Domaines: Médecine humaine et pathologie; Génétique humaine; Cancer

Pierre Vande Perre, Daniel Tolédano, Carole Corsini, Elsa Escriba, Marine Laporte, et al.. Role of the general practitioner in the care of BRCA1 and BRCA2 mutation carriers: General practitioner and patient perspectives. Molecular Genetics & Genomic Medicine, 2018, 6 (6), pp.957--965. ⟨10.1002/mgg3.464⟩. ⟨hal-02315105⟩