More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling

Abstract

Currently, most breast cancer (BC) patients receive face-to-face genetic counseling (DNA-intake) prior to BRCA-mutation testing, with generic information regarding hereditary BC and BRCA-mutation testing. This prospective study evaluated a novel format: replacing the intake consultation with telephone, written and digital information sent home, and face-to-face contact following BRCA-mutation testing (DNA-direct). From August 2011 to February 2012, 161 of 233 eligible BC patients referred to our Human Genetics department chose between DNA-direct (intervention) or DNA-intake (control). Exclusion criteria were psychological problems (n = 33), difficulty with Dutch text (n = 5), known BRCA-family (n = 3), non-BRCA-referral (n = 1). 30 declined genetic counseling or study participation. Participants received questionnaires including satisfaction and psychological distress. 59 % chose DNA-direct (p = 0.03), of whom 90 % were satisfied and would choose DNA-direct again (including 6/8 BRCA-mutation carriers); although 27 % hesitated to recommend DNA-direct to other patients. General distress (GHQ-12, p = 0.001) and heredity-specific distress (IES, p = 0.02) scored lower in DNA-direct than DNA-intake, both at baseline and follow-up 2 weeks after BRCA-result disclosure; all scores remained below clinical relevance. DNA-direct participants reported higher website use (53 vs. 32 %, p = 0.01), more referrer information about personal consequences (41 vs. 20 %, p = 0.004) and lower decisional conflict (median 20 [0-88] vs. 25 [0-50], p = 0.01). Processing time in DNA-direct was reduced by 1 month. Mutation detection rate was 8 % in both groups. All BRCA-mutation carriers fulfilled current testing criteria. In conclusion, more BC patients preferred DNA-direct over intake consultation prior to BRCA-mutation testing, the majority being strongly to moderately satisfied with the procedure followed, without increased distress.

New paradigms forBRCA1/BRCA2testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study

“…These findings are therefore likely to be widely applicable, and similar new approaches have been trialled in other countries, such as Norway 7 and the Netherlands. 27 Even though overall numbers tested are relatively small, the participation rate was high and the mutation yield is consistent with those reported in other studies in heterogeneous populations lacking founder mutations. One weakness is the lack of ethnic diversity in the study participants, which reflects the relative homogeneity of the East Anglian population (91% white Caucasian for all ages; Office for National Statistics, 2011 Census data from KS201EW).…”

“…These findings are therefore likely to be widely applicable, and similar new approaches have been trialled in other countries, such as Norway7 and the Netherlands 27. Even though overall numbers tested are relatively small, the participation rate was high and the mutation yield is consistent with those reported in other studies in heterogeneous populations lacking founder mutations.…”

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

“…In the UK, implementation of the mainstreaming model resulted in a 100% genetic testing rate for women with non-mucinous ovarian cancer, with high patient and clinician satisfaction and reduced patient wait-times 38. In the Netherlands, all patients with breast cancer referred for genetic testing were given the option of counselling using a traditional or ‘DNA-Direct’ model, where patients were mailed an informational letter, a website link to a pre-test video and a blood collection kit 46 47. The majority of patients (59%) chose the DNA-Direct model, of whom 100% completed genetic testing and 89% stated they would choose the DNA-Direct model again 46.…”

“…In the Netherlands, all patients with breast cancer referred for genetic testing were given the option of counselling using a traditional or ‘DNA-Direct’ model, where patients were mailed an informational letter, a website link to a pre-test video and a blood collection kit 46 47. The majority of patients (59%) chose the DNA-Direct model, of whom 100% completed genetic testing and 89% stated they would choose the DNA-Direct model again 46. A similar ‘DNA BONus’ model in Norway offered genetic testing to all newly diagnosed patients with breast and ovarian cancer using an information sheet in lieu of pre-test genetic counselling, with 68% of patients with ovarian cancer accepting genetic testing 39.…”

BRCA to the future: towards best testing practice in the era of personalised healthcare

“…Examples include conserving germline BRCA testing and associated genetic counselling to those patients with a positive tumour pathogenic BRCA mutation result, enabling trained oncologists and medical specialists/staff, in addition to genetic counsellors, to manage pre-test genetic consultations with patients 24 and accounting for patient preferences regarding counselling and information such as telephone consultations with additional educational resources for selected patients. 25 I greatly appreciate the collaboration of Professor Stoppa-Lyonnet, Dr Andrew Wallace, Professor Nicoline Hoogerbrugge and Dr Marjolijn Jongmans for an engaging symposium and subsequent review articles. We hope that this supplement provides you with a comprehensive update on the practical, prognostic and clinical implications of the evolving BRCA testing landscape.…”