Breast and Ovarian Cancer Risk and Prevention
Clinical Research Updates (8/21/06)
Information on the new BRCA1/BRCA2 Rearrangement Test
Technologies in testing for hereditary breast and ovarian cancer are always advancing. Myriad Genetic Laboratories has created a new genetic test that appears to pick up additional large changes in the BRCA1/2 genes. Myriad anticipates that about 1 percent of high-risk families would be found to have a mutation in either BRCA1 or BRCA2 through this new test. However, the stronger the family history, the more likely it is that the new test would be positive. The chance for a positive result may be as high as 20 percent in some families.
We do not believe that this test is appropriate for all families. If you are interested in obtaining the test, or would like to receive additional information, please contact your genetic counselor, listed below. Answers to some common questions follow that may help you make your decision.
1. Who should consider this testing? Anyone who has had BRCA1 and BRCA2 testing with a negative or variant result prior to July 31, 2006, may opt to receive this additional rearrangement testing. However, it is likely that only a small number of people will be found to have a mutation through the new test. The laboratory estimates that about 1% of high-risk families will have a mutation found by this analysis, but families with very strong histories may have a much higher chance.
2. How much does this testing cost? For anyone who had BRCA1 and BRCA2 testing prior to July 31, 2006, the cost of this additional rearrangement testing is $650.
3. Will insurance cover this new test? Because it is so new, it is difficult to know whether or not insurers will cover the test. Patients will be asked to sign a waiver acknowledging that they understand that this test may not be covered and they will be responsible for any unpaid balance. There is a chance that in the future most healthcare plans will choose to cover this, but we can't predict if or when that will happen.
4. If I choose to go through with this new testing, what will I need to do? If you check the option below or contact us by phone or e-mail, we will get in touch with you. We will ask you to provide us with any updates to your family history and set up an appointment for you to come to Dana-Farber to review the test and provide an additional blood sample to ship to Myriad.
5. How long will I have to wait for my results? It should take about 3-4 weeks for the lab to complete the analysis once the test has begun. Your genetic counselor will notify you when your results are received.
Remember to update your family's medical information
Having current medical information on you and your family is important for us so that we can provide you with information about new testing options as they become available. Even if you choose not to have the new test at this time, but have updated medical information on either yourself or a member of your family, please contact your genetic counselor or Perrin Schilling at (617) 632-4363 or by e-mail perrin_schilling@dfci.harvard.edu.
Contact Information
Genetic Counselors
Anu Chittenden, MS, CGC
(617) 632-4757
anu_chittenden@dfci.harvard.edu
Meredith Keenan, MS, CGC
(617) 632-4889
meredith_keenan@dfci.harvard.edu
Shelley McCormick, MS
(617) 632-3210
shelley_mccormick@dfci.harvard.edu
Alexandra Perez, MS
(617) 582-8283
alexandra_perez@dfci.harvard.edu
Katherine Schneider, MPH, CGC
(617) 632-3480
katherine_schneider@dfci.harvard.edu
Administrative Coordinator
Perrin Schilling
(617) 632-4363
perrin_schilling@dfci.harvard.edu
- If you were seen by a genetic counselor that is not listed on this page, or you do not have the information about which counselor you saw, please contact Perrin Schilling.
- Even if you choose not to have the new test at this time, but have updated medical information about yourself or any of your family members, please contact us so that we can keep your file current.
- If you have any other questions about the Cancer Risk and Prevention Clinic, do not hesitate to contact us.
