Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries

Anne Brédart,Peter Devilee,Kerstin Rhiem,Douglas F Easton,Antonis C Antoniou,Dominique Stoppa-Lyonnet,Rita Schmutlzer,Hans Ehrencrona,Léonore Robieux,Jean-Luc Kop,Marc Tischkowitz,Alex P Cunningham,Antoine De Pauw,Sylvie Dolbeault

doi:10.1007/s10689-017-0014-x

Abstract

The ‘BOADICEA’ Web Application (BWA) used to assess breast cancer risk, is currently being further developed, to integrate additional genetic and non-genetic factors. We surveyed clinicians’ perceived acceptability of the existing BWA v3. An online survey was conducted through the BOADICEA website, and the British, Dutch, French and Swedish genetics societies. Cross-sectional data from 443 participants who provided at least 50% responses were analysed. Respondents varied in age and, clinical seniority, but mainly comprised women (77%) and genetics professionals (82%). Some expressed negative opinions about the scientific validity of BOADICEA (9%) and BWA v3 risk presentations (7–9%). Data entry time (62%), clinical utility (22%) and ease of communicating BWA v3 risks (13–17%) received additional negative appraisals. In multivariate analyses, controlling for gender and country, data entry time was perceived as longer by genetic counsellors than clinical geneticists (p < 0.05). Respondents who (1) considered hormonal BC risk factors as more important (p < 0.01), and (2) communicated numerical risk estimates more frequently (p < 0.001), judged BWA v3 of lower clinical utility. Respondents who carried out less frequent clinical activity (p < 0.01) and respondents with ‘11 to 15 years’ seniority (p < 0.01) had less favourable opinions of BWA v3 risk presentations. Seniority of ‘6 to 10 years’ (p < 0.05) and more frequent numerical risk communication (p < 0.05) were associated with higher fear of communicating the BWA v3 risks to patients. The level of genetics training did not affect opinions. Further development of BWA should consider technological, genetics service delivery and training initiatives.

Highlights

Breast cancer (BC) is a major public health problem for women with almost 1.7 million new BC diagnoses estimated worldwide in 2012 [1]. Among these BC patients, 10 to 20% present with a BC family history, and two decades ago, BRCA1 and BRCA2 were identified as major BC susceptibility genes [2]
Additional genetic factors have been identified, including rare variants in genes other than BRCA1 and BRCA2 associated with “moderate” to “high” risk of BC, and common genetic variants which individually are associated with low BC risk [3]
These panels include a variable number of genes [4,5,6] and clear evidence of association with breast cancer is currently available for eleven genes (i.e., BRCA1, BRCA2, TP53, PALB2, PTEN, CHEK2, ATM, NF1, PTEN, STK11, CDH1) [7], supporting the use of this information in clinical genetics services

Summary

Introduction

Breast cancer (BC) is a major public health problem for women with almost 1.7 million new BC diagnoses estimated worldwide in 2012 [1] Among these BC patients, 10 to 20% present with a BC family history, and two decades ago, BRCA1 and BRCA2 were identified as major BC susceptibility genes [2]. This study was performed as part of the BRIDGES research program [8] that aims to implement comprehensive genetic testing into BC risk assessment The latter will be achieved through further development of the ‘breast and ovarian analysis of disease incidence and carrier estimation algorithm’ (BOADICEA) which presently computes BRCA1 and BRCA2 mutation carrier probabilities and future risks of developing breast and ovarian cancer on the basis of explicit disease inheritance patterns, family history and genetic testing information [9,10,11,12,13]

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Discussion

Conclusion