Family History Record and Hereditary Cancer Risk Perception according to National Cancer Institute Criteria in a Spanish Medical Oncology Service: A Retrospective Study

Márquez-Rodas, Iván; López-Trabada, Daniel; Blanco, Ana; Cabello, Sara Custodio; Gómez, María Isabel Peligros; Clemente, María Orera; Martı́n, Miguel Ángel

doi:10.1159/000335960

Cited by 7 publications

(2 citation statements)

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“…In a previous study, we described a low occurrence of both family history record (FHR) collection rate and GC referral at our oncology practice, indicating a low hereditary cancer risk perception (Marquez-Rodas et al 2012). However, these data were obtained during a period prior to the establishment of a multidisciplinary heredofamilial cancer unit (HFCU) in 2010.…”

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confidence: 99%

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

Márquez-Rodas

López-Tarruella

Jerez

et al. 2013

Journal of Genetic Counseling

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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 < 0.001). The GC referral of patients with any NCI criterion was 13.6 % xin cohort 1 vs. 40.5 % in cohort 2 (p < 0.001). FHR quality improved in terms of the total number of relatives (164 vs. 314, p = 0.1, N.S.) and number of healthy relatives consigned (80 vs. 191, p < 0.01). 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.

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Section: Introductionmentioning

confidence: 99%

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

Márquez-Rodas

López-Tarruella

Jerez

et al. 2013

Journal of Genetic Counseling

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“…We have previously described the barriers faced by patients in our institution to obtain appropriate genetic counselling, mainly because of the lack of time in general oncology consultation and the lack of a formal cancer genetic counselling program [9] . However, these barriers in referral were overcome with the implementation of a multidisciplinary heredofamilial cancer unit (HFCU) in 2010, leading to an increase in family history records and referral of increased risk patients to genetic counselling [10] .…”

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Five Years of Multidisciplinary Care in Hereditary Cancer: Our Experience in a Spanish University Hospital

Márquez-Rodas

Lobo²,

Flores-Sanchez³

et al. 2016

Oncology

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Objective: To analyse the evolution of a multidisciplinary heredofamilial cancer unit (HFCU) in a university hospital. Methods: This was a retrospective analysis of the activity of our HFCU in its first 5 years of existence. Results: Between July 2010 and July 2015, 1,518 patients from 1,318 families attended our HFCU. Genetic testing was offered to 862 patients. Of those, 833 (96.6%) accepted testing, with available results for 636 (76.4%). Pathogenic mutations in BRCA1 and BRCA2 were found in 175 patients. Lynch syndrome and adenomatous polyposis were the most frequent syndromes diagnosed (151/175, 86.3%) among 17 different syndromes studied. Of the 404 patients without a previous genetic diagnosis in the family, 62 (15.3%) were found to have mutations in disease-causing genes. Prophylactic surgery and follow-up (33.7%) or follow-up only (66.3%) was proposed for mutation carriers according to international guidelines and patients' preferences. Conclusion: We have a high mutation detection rate, genetic test acceptance, and compliance with risk reduction strategies. However, there is room for improvement, especially in genetic testing timing, considering that an increase in the indications for genetic testing is expected.

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A family history questionnaire improves detection of women at risk for hereditary gynecologic cancer: a pilot study

et al. 2014

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Pilot study to evaluate whether the use of a standardized questionnaire to document family history of cancer improves identification of women who warrant referral to cancer genetic services (CGS) for increased risk of hereditary cancer, compared to their identification in usual care. Prospective intervention study with historic control group. Gynecology outpatient clinic, Maastricht University Medical Centre, the Netherlands. The prospective intervention group consisted of new outpatients between June 1 and August 1, 2011. The historic control group consisted of new outpatients between May 1, 2009 and April 30, 2010. A standardized questionnaire based on established referral criteria for hereditary breast/ovarian cancer and Lynch syndrome was completed for the intervention group. The referral rate in routine consultation, based on non-standardized family history recording, was determined retrospectively for the control group. The difference in referral rate between intervention and control group, tested by Chi square test. In the control group, 8 of 3,036 women (0.26 %) were referred to CGS. In the intervention group, 209 (42 %) of 500 screening questionnaires were completed. Nineteen women (9, 1 %) met the referral guidelines, of which 5 were newly referred to CGS (2, 4 %). Referral rates differed significantly (p < 0.001) between the two groups. This pilot study shows that the routine use of a screening questionnaire may improve detection and referral rate to CGS of individuals at risk for hereditary cancer. Improving genetic literacy of physicians and use of web-site questionnaires deserve attention in future studies.

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Family History Record and Hereditary Cancer Risk Perception according to National Cancer Institute Criteria in a Spanish Medical Oncology Service: A Retrospective Study

Cited by 7 publications

References 32 publications

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

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

Five Years of Multidisciplinary Care in Hereditary Cancer: Our Experience in a Spanish University Hospital

A family history questionnaire improves detection of women at risk for hereditary gynecologic cancer: a pilot study

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