title: Impact of rapid genetic counselling and testing on the decision to undergo immediate or delayed prophylactic mastectomy in newly diagnosed breast cancer patients: findings from a randomised controlled trial.
abstract: BACKGROUND
  Female breast cancer patients with a BRCA1/2 mutation have an increased risk of contralateral breast cancer. We investigated the effect of rapid genetic counselling and testing (RGCT) on choice of surgery.
  
  
  METHODS
  Newly diagnosed breast cancer patients with at least a 10% risk of a BRCA1/2 mutation were randomised to an intervention group (offer of RGCT) or a control group (usual care; ratio 2 : 1). Primary study outcomes were uptake of direct bilateral mastectomy (BLM) and delayed contralateral prophylactic mastectomy (CPM).
  
  
  RESULTS
  Between 2008 and 2010, we recruited 265 women. On the basis of intention-to-treat analyses, no significant group differences were observed in percentage of patients opting for a direct BLM (14.6% for the RGCT group vs 9.2% for the control group; odds ratio (OR) 2.31; confidence interval (CI) 0.92-5.81; P=0.08) or for a delayed CPM (4.5% for the RGCT group vs 5.7% for the control group; OR 0.89; CI 0.27-2.90; P=0.84). Per-protocol analysis indicated that patients who received DNA test results before surgery (59 out of 178 women in the RGCT group) opted for direct BLM significantly more often than patients who received usual care (22% vs 9.2%; OR 3.09, CI 1.15-8.31, P=0.03).
  
  
  CONCLUSIONS
  Although the large majority of patients in the intervention group underwent rapid genetic counselling, only a minority received DNA test results before surgery. This may explain why offering RGCT yielded only marginally significant differences in uptake of BLM. As patients who received DNA test results before surgery were more likely to undergo BLM, we hypothesise that when DNA test results are made routinely available pre-surgery, they will have a more significant role in surgical treatment decisions.
authors.affiliation: 1] Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, PO Box 90203, 1006 BE Amsterdam, The Netherlands [2] Division of Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 AB Utrecht, The Netherlands.
authors.forename: M R
authors.initials: MR
authors.lastname: Wevers
authors.affiliation: Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, PO Box 90203, 1006 BE Amsterdam, The Netherlands.
authors.forename: N K
authors.initials: NK
authors.lastname: Aaronson
authors.affiliation: Family Cancer Clinic, The Netherlands Cancer Institute, PO Box 90203, 1006 BE Amsterdam, The Netherlands.
authors.forename: S
authors.initials: S
authors.lastname: Verhoef
authors.affiliation: Division of Psychosocial Research and Epidemiology & Family Cancer Clinic, The Netherlands Cancer Institute, PO Box 90203, 1006 BE Amsterdam, The Netherlands.
authors.forename: E M A
authors.initials: EM
authors.lastname: Bleiker
authors.affiliation: Department of Psychosocial Counseling, The Netherlands Cancer Institute, PO Box 90203, 1006 BE Amsterdam, The Netherlands.
authors.forename: D E E
authors.initials: DE
authors.lastname: Hahn
authors.affiliation: Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, PO Box 90203, 1006 BE Amsterdam, The Netherlands.
authors.forename: M A
authors.initials: MA
authors.lastname: Kuenen
authors.affiliation: Division of Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 AB Utrecht, The Netherlands.
authors.forename: J
authors.initials: J
authors.lastname: van der Sanden-Melis
authors.affiliation: Division of Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 AB Utrecht, The Netherlands.
authors.forename: T
authors.initials: T
authors.lastname: Brouwer
authors.affiliation: Division of Pathology, The Netherlands Cancer Institute, PO Box 90203, 1006 BE Amsterdam, The Netherlands.
authors.forename: F B L
authors.initials: FB
authors.lastname: Hogervorst
authors.affiliation: Division of Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 AB Utrecht, The Netherlands.
authors.forename: R B
authors.initials: RB
authors.lastname: van der Luijt
authors.affiliation: Department of Oncological Sciences, Mount Sinai School of Medicine, Icahn Medical Institute, 1425 Madison Avenue, New York, NY 10029, USA.
authors.forename: H B
authors.initials: HB
authors.lastname: Valdimarsdottir
authors.affiliation: Division of Surgery, Diakonessen Hospital, PO Box 80250, 3508 TG Utrecht, The Netherlands.
authors.forename: T
authors.initials: T
authors.lastname: van Dalen
authors.affiliation: Division of Surgery, St Antonius Hospital, PO Box 2500, 3430EM Nieuwegein, The Netherlands.
authors.forename: E B M
authors.initials: EB
authors.lastname: Theunissen
authors.affiliation: Division of Surgery, Meander Medical Center, PO Box 1502, 3800 BM Amersfoort, The Netherlands.
authors.forename: B
authors.initials: B
authors.lastname: van Ooijen
authors.affiliation: Division of Surgery, Rivierenland Hospital, PO Box 6024, 4000 HA Tiel, The Netherlands.
authors.forename: M A
authors.initials: MA
authors.lastname: de Roos
authors.affiliation: Division of Surgery, Onze Lieve Vrouwe Gasthuis, PO Box 95500, 1090 HM Amsterdam, The Netherlands.
authors.forename: P J
authors.initials: PJ
authors.lastname: Borgstein
authors.affiliation: Division of Surgery, St Lucas Andreas Hospital, PO Box 9243, 1006 AE Amsterdam, The Netherlands.
authors.forename: B C
authors.initials: BC
authors.lastname: Vrouenraets
authors.affiliation: Division of Surgery, Tergooi Hospitals, PO Box 10016, 1201 DA Blaricum, The Netherlands.
authors.forename: E
authors.initials: E
authors.lastname: Vriens
authors.affiliation: Division of Surgery, Gelre Hospitals, Albert Schweitzerlaan 31, 7334 DZ Apeldoorn, The Netherlands.
authors.forename: W H
authors.initials: WH
authors.lastname: Bouma
authors.affiliation: Division of Surgery, Kennemer Gasthuis, PO Box 417, 2000 AK Haarlem, The Netherlands.
authors.forename: H
authors.initials: H
authors.lastname: Rijna
authors.affiliation: Division of Surgery, Zuwe Hofpoort Hospital, PO Box 8000, 3440 JD Woerden, The Netherlands.
authors.forename: J P
authors.initials: JP
authors.lastname: Vente
authors.affiliation: Division of Surgery, University Medical Center Utrecht, PO Box 85500, 3508GA Utrecht, The Netherlands.
authors.forename: A J
authors.initials: AJ
authors.lastname: Witkamp
authors.affiliation: Division of Surgery, the Netherlands Cancer Institute, PO Box 90203, 1006 BE Amsterdam, The Netherlands.
authors.forename: E J T
authors.initials: EJ
authors.lastname: Rutgers
authors.affiliation: Division of Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 AB Utrecht, The Netherlands.
authors.forename: M G E M
authors.initials: MG
authors.lastname: Ausems
mesh_terms: D000328:Adult; D000368:Aged; D019313:BRCA1 Protein / Q000235:genetics; D024682:BRCA2 Protein / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics* / Q000517:prevention & control / Q000601:surgery*; D002755:Choice Behavior; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D062489:Health Impact Assessment; D006801:Humans; D008408:Mastectomy; D008875:Middle Aged; D011795:Surveys and Questionnaires; D055815:Young Adult
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human