title: Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients.
abstract: Advances in DNA sequencing have made genetic testing fast and affordable, but limitations of testing processes are impeding realisation of patient benefits. Ovarian cancer exemplifies the potential value of genetic testing and the shortcomings of current pathways to access testing. Approximately 15% of ovarian cancer patients have a germline BRCA1 or BRCA2 mutation which has substantial implications for their personal management and that of their relatives. Unfortunately, in most countries, routine implementation of BRCA testing for ovarian cancer patients has been inconsistent and largely unsuccessful. We developed a rapid, robust, mainstream genetic testing pathway in which testing is undertaken by the trained cancer team with cascade testing to relatives performed by the genetics team. 207 women with ovarian cancer were offered testing through the mainstream pathway. All accepted. 33 (16%) had a BRCA mutation. The result informed management of 79% (121/154) women with active disease. Patient and clinician feedback was very positive. The pathway offers a 4-fold reduction in time and 13-fold reduction in resource requirement compared to the conventional testing pathway. The mainstream genetic testing pathway we present is effective, efficient and patient-centred. It can deliver rapid, robust, large-scale, cost-effective genetic testing of BRCA1 and BRCA2 and may serve as an exemplar for other genes and other diseases.
authors.affiliation: Division of Genetics and Epidemiology, The Institute of Cancer Research, London UK.|Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, London UK.|The Gynaecological Cancer Unit, The Royal Marsden NHS Foundation Trust, London UK.
authors.forename: Angela
authors.initials: A
authors.lastname: George
authors.affiliation: Division of Genetics and Epidemiology, The Institute of Cancer Research, London UK.
authors.forename: Daniel
authors.initials: D
authors.lastname: Riddell
authors.affiliation: Division of Genetics and Epidemiology, The Institute of Cancer Research, London UK.|TGLclinical, The Institute of Cancer Research, London UK.
authors.forename: Sheila
authors.initials: S
authors.lastname: Seal
authors.affiliation: Division of Genetics and Epidemiology, The Institute of Cancer Research, London UK.|TGLclinical, The Institute of Cancer Research, London UK.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Talukdar
authors.affiliation: Division of Genetics and Epidemiology, The Institute of Cancer Research, London UK.|TGLclinical, The Institute of Cancer Research, London UK.
authors.forename: Shazia
authors.initials: S
authors.lastname: Mahamdallie
authors.affiliation: Division of Genetics and Epidemiology, The Institute of Cancer Research, London UK.
authors.forename: Elise
authors.initials: E
authors.lastname: Ruark
authors.affiliation: TGLclinical, The Institute of Cancer Research, London UK.
authors.forename: Victoria
authors.initials: V
authors.lastname: Cloke
authors.affiliation: Oxford University NHS Hospital Trust, Oxford UK.
authors.forename: Ingrid
authors.initials: I
authors.lastname: Slade
authors.affiliation: Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, London UK.
authors.forename: Zoe
authors.initials: Z
authors.lastname: Kemp
authors.affiliation: The Gynaecological Cancer Unit, The Royal Marsden NHS Foundation Trust, London UK.
authors.forename: Martin
authors.initials: M
authors.lastname: Gore
authors.affiliation: Division of Genetics and Epidemiology, The Institute of Cancer Research, London UK.|TGLclinical, The Institute of Cancer Research, London UK.
authors.forename: Ann
authors.initials: A
authors.lastname: Strydom
authors.affiliation: The Gynaecological Cancer Unit, The Royal Marsden NHS Foundation Trust, London UK.
authors.forename: Susana
authors.initials: S
authors.lastname: Banerjee
authors.affiliation: Division of Genetics and Epidemiology, The Institute of Cancer Research, London UK.|Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, London UK.
authors.forename: Helen
authors.initials: H
authors.lastname: Hanson
authors.affiliation: Division of Genetics and Epidemiology, The Institute of Cancer Research, London UK.|Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, London UK.|TGLclinical, The Institute of Cancer Research, London UK.
authors.forename: Nazneen
authors.initials: N
authors.lastname: Rahman
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics; D024682:BRCA2 Protein / Q000235:genetics; D003362:Cost-Benefit Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000191:economics* / Q000379:methods; D006801:Humans; D008875:Middle Aged; D017146:Models, Organizational; D009154:Mutation; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D017060:Patient Satisfaction; D018802:Patient-Centered Care / Q000191:economics* / Q000379:methods; D016730:Program Development; D011795:Surveys and Questionnaires; D055815:Young Adult
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human