Rapid Genetic Testing for Newly Diagnosed Breast Cancer Patients Phase II

What is the study about and why is your participation important?

The Familial Breast Cancer Research Unit at Women’s College Hospital is offering free rapid genetic testing to women newly diagnosed with breast cancer as part of a research study called Rapid Genetic Testing II Study (RGT2S). The study provides genetic testing for 9 genes associated with increased risk of breast and other cancers free of charge to participants. Test results are available quickly, with a testing turnaround time of 5-12 days, and all results are disclosed to participants by a genetic counsellor.

Genetic testing results may be important to determine the best breast cancer treatment plan to increase survival, but are not commonly available before treatment decisions are made. Knowing this information early on allows participants and their doctors to make the best decisions to optimally treat their breast cancer and prevent future cancers from occurring. This study aims to provide fast genetic testing services using an alternative model of genetic counselling in order to get results to participants more quickly than traditional genetic testing services. With an expedited turnaround time, this study allows participants and their doctors to consider their testing results before making treatment plan decisions.

You are eligible to participate in this study if you meet all of the following criteria:

  • You are a woman who was recently diagnosed with your first invasive breast cancer (Stage I or higher—the study team will require a copy of your biopsy results for confirmation prior to participation) and
  • You have not yet had surgery for the treatment of your breast cancer nor have you had a previous prophylactic breast surgery and
  • You are between age 18 to 70 (inclusive) and
  • You are able to read and understand English and
  • You have not received genetic testing for any of the study genes (BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53, ATM, or CHEK2)

In addition, you must meet one or more of the following criteria:

  • You were diagnosed with breast cancer before age 50 or
  • You are of Jewish ethnicity or
  • You were diagnosed with a triple negative breast cancer or
  • You have a family history of breast cancer and/or ovarian cancer (i.e. a sibling, parent, child, aunt, uncle, or grandparent diagnosed with breast cancer before age 50 or ovarian cancer at any age or male breast cancer at any age) or
  • You were diagnosed with bilateral breast cancer (breast cancer in both breasts)

All study activities can be completed at home. If you choose to participate, you will be asked to:

  • Complete a consent form indicating your willingness to participate
  • Provide contact information for yourself and an alternate contact
  • Complete four short study questionnaires over a two year period. Each questionnaire takes about 10-15 minutes to complete and may be completed online.
  • Provide your family history
  • Provide a saliva sample for genetic testing by Invitae in the United States
  • Give permission to the study to collect medical records about your cancer diagnosis and treatment and give permission to the study team to release your study genetic testing results to those you list

If you are interested in participating or learning more about the Rapid Genetic Testing II Study, please contact the study team by emailing RapidTestingStudy@wchospital.ca or calling 416-351-3770. You may also complete our pre-screening questions to determine if you are eligible for the study and submit a request for participation, by completing the Screening Form.