Evaluation of a Heredofamilial Cancer Unit in Increasing Family History Collection and Genetic Counseling Referrals Among Spanish Oncologists at a University Hospital

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• 作者：Iván Márquez-Rodas (1)
  Sara López-Tarruella (1)
  Yolanda Jerez (1)
  Mercedes Cavanagh (1)
  Sara Custodio (1)
  Daniel López-Trabada (1)
  Beatriz Moya (1)
  Sara Pérez (1)
  Ana B. Rupérez (1)
  Miguel Martín (1)
  
• 关键词：Hereditary cancer ; Genetic counseling ; Prevention ; Multidisciplinary approach ; Genetic testing ; Genetics referral
• 刊名：Journal of Genetic Counseling
• 出版年：2014
• 出版时间：February 2014
• 年：2014
• 卷：23
• 期：1
• 页码：108-113
• 全文大小：149 KB
• 作者单位：Iván Márquez-Rodas (1)
  Sara López-Tarruella (1)
  Yolanda Jerez (1)
  Mercedes Cavanagh (1)
  Sara Custodio (1)
  Daniel López-Trabada (1)
  Beatriz Moya (1)
  Sara Pérez (1)
  Ana B. Rupérez (1)
  Miguel Martín (1)
  
  1. Servicio de Oncología Médica; Instituto de Investigación Sanitaria Gregorio Mara?ón, Universidad Complutense, Calle Maiquez 7, 28007, Madrid, Spain
  
• ISSN：1573-3599

文摘

A comprehensive family history is essential to identify patients at risk for hereditary cancer who could benefit from genetic counseling (GC). In a previous study, we observed a low occurrence of family history record (FHR) collection rate and GC referral among oncologists at our institution. The present work analyzes whether the implementation of a heredofamilial cancer unit (HFCU) would improve these parameters. We retrospectively compared the FHR rate in clinical records, National Cancer Institute (NCI) general criteria for hereditary cancer suspicion, GC referrals and FHR quality in two cohorts: cohort 1 (patients diagnosed before HFCU creation) and cohort 2 (after HFCU creation). Of 1,175 patients (590 cohort 1 and 585 cohort 2), FHRs were consigned in 27.3?% and 52.5?% of patients, respectively (p-lt;-.001). The GC referral of patients with any NCI criterion was 13.6?% xin cohort 1 vs. 40.5?% in cohort 2 (p-lt;-.001). FHR quality improved in terms of the total number of relatives (164 vs. 314, p--.1, N.S.) and number of healthy relatives consigned (80 vs. 191, p-lt;-.01). Nine mutations (6 BRCA, 1 MEN1, 2 Lynch), 4 unknown significance variants (all in BRCA) and 2 with no mutation were identified among patients referred from cohort 2. We conclude that the creation of a heredofamilial cancer unit has changed both FHR and GC referrals among oncologists at our institution, although continuous educational efforts are required.