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Timing of Referral for Genetic Counseling and Genetic Testing in Patients With Ovarian, Fallopian Tube, or Primary Peritoneal Carcinoma
  1. Akiva P. Novetsky, MD, MS*,
  2. Kylie Smith, MD*,
  3. Sheri A. Babb, MS*,
  4. Donna B. Jeffe, PhD,
  5. Andrea R. Hagemann, MD*,
  6. Premal H. Thaker, MD, MS*,
  7. Matthew A. Powell, MD*,
  8. David G. Mutch, MD*,
  9. L. Stewart Massad, MD* and
  10. Israel Zighelboim, MD
  1. *Division of Gynecologic Oncology, Department of Obstetrics and Gynecology;
  2. Division of Health Behavior Research, Department of Medicine, Washington University School of Medicine and Siteman Cancer Center, St Louis, MO; and
  3. Section of Gynecologic Oncology, St. Luke’s Cancer Center, Temple University School of Medicine, Bethlehem, PA.
  1. Address correspondence and reprint requests to Akiva Pesach Novetsky, MD, MS, 4911 Barnes Jewish Plaza, Campus Box 8064, St Louis, MO 63110. E-mail: novetskya@wudosis.wustl.edu.

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.

  • Genetic counseling
  • Genetic testing
  • BRCA mutation
  • Timing
  • Ovarian/fallopian tube/primary peritoneal cancer

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Footnotes

  • The Core is supported in part by the National Cancer Institute Cancer Center support grant (P30 CA091842) to the Alvin J. Siteman Cancer Center at Barnes-Jewish Hospital and Washington University School of Medicine in St Louis, MO.

  • The authors declare no conflicts of interest.

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