RESUMEN
Patients found to have presumed germline pathogenic variants (PGPVs) during comprehensive genomic profiling (CGP) require genetic counseling (GC) referrals. We retrospectively investigated the outcomes of patients with PGPVs. Among 159 patients who underwent CGP, we recommended GC for the 16 patients with PGPVs (3 with [FG group] and 13 without [G Group] a family/personal history of hereditary cancer) as well as for the 8 patients with no PGPVs, but a history (F group); 2 (67%), 5 (38%), and 3 (38%) patients received GC in the FG, G, and F groups, respectively. Germline testing results were positive in 1 and 2 patients of the FG and G groups, respectively. Among the patients recommended for GC, 58% did not receive GC due to lack of interest, poor performance status, or death. CGP contributes to the identification of germline variants in patients without a history of hereditary cancer. However, the proportion of patients who undergo GC should be improved.
Asunto(s)
Predisposición Genética a la Enfermedad , Neoplasias , Humanos , Estudios Retrospectivos , Neoplasias/genética , Mutación de Línea Germinal , Genómica/métodosRESUMEN
Designated cancer care hospitals are responsible for constructing a local communication system between hospitals, clinics and nursing homes. Their team approaches are essential in a consistent medical care for cancer patients. Clinical pathway sheets shared by them will promote their collaboration and keep the consistency of medical care. Counseling and supporting section, palliative care unit and palliative care team in the designated cancer care hospital play an important role improving the quality of medical care for cancer patients.