Timing of referral for genetic counseling and genetic testing in patients with ovarian, fallopian tube, or primary peritoneal carcinoma

Int J Gynecol Cancer. 2013 Jul;23(6):1016-21. doi: 10.1097/IGC.0b013e3182994365.

Abstract

Objective: The objective of this study was to assess patients' preferences of the timing of referral for genetic counseling and testing in relation to the diagnosis, treatment, and recurrence of ovarian, tubal, or primary peritoneal cancers.

Methods: Ninety-two patients who underwent counseling and testing by 1 certified genetic counselor were identified. An introductory letter, consent form, and questionnaire were mailed to gather information regarding factors influencing the decision to undergo genetic counseling and testing and opinions regarding optimal timing. Medical records were reviewed for demographic and clinical data.

Results: Of 47 consenting women, 45 underwent testing. Eight (18%) were found to have a genetic mutation. Women lacked consensus about the optimal time for referral for and to undergo genetic testing, although women with stage I disease preferred testing after completion of chemotherapy. Most women were comfortable receiving the results by phone, but one third preferred an office visit.

Conclusions: Patients' views regarding the best time to be referred for and undergo counseling and testing varied greatly. Because of the high mortality of this disease, clinicians should discuss referral early and personalize the timing to each patient. The subset of patients who prefer results disclosure during an office visit should be identified at the time of their initial counseling.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma, Clear Cell / diagnosis
  • Adenocarcinoma, Clear Cell / genetics
  • Adenocarcinoma, Clear Cell / psychology
  • Aged
  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Cystadenocarcinoma, Serous / diagnosis
  • Cystadenocarcinoma, Serous / genetics
  • Cystadenocarcinoma, Serous / psychology
  • Endometrial Neoplasms / diagnosis
  • Endometrial Neoplasms / genetics
  • Endometrial Neoplasms / psychology
  • Fallopian Tube Neoplasms / diagnosis*
  • Fallopian Tube Neoplasms / genetics
  • Fallopian Tube Neoplasms / psychology
  • Female
  • Follow-Up Studies
  • Genetic Counseling / psychology*
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Humans
  • Middle Aged
  • Mutation / genetics
  • Neoplasm Staging
  • Ovarian Neoplasms / diagnosis*
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / psychology
  • Peritoneal Neoplasms / diagnosis*
  • Peritoneal Neoplasms / genetics
  • Peritoneal Neoplasms / psychology
  • Prognosis
  • Referral and Consultation*
  • Survival Rate
  • Time Factors

Substances

  • BRCA1 Protein
  • BRCA1 protein, human
  • BRCA2 Protein
  • BRCA2 protein, human