Welcome to the Yale Cancer Center Genetic Counseling Program newsletter. Generations is a bi-annual publication written to provide the latest information on cancer genetic counseling and supportive care concerns. We hope you find this issue of generations helpful and welcome your suggestions for future topics.

Program Announcement
Erin Hofstatter, MD joined the Yale Cancer Center in August 2010 and specializes in breast cancer oncology and the long term management of patients with hereditary cancer syndromes. Dr. Hofstatter received her medical degree at the University of Connecticut School of Medicine and completed her internship and residency at Mount Auburn Hospital in MA before going on to do her clinical fellowship in hematology/oncology at the Beth Israel Deaconess in Boston, MA. She is an active member of the Cancer Genetic Counseling Program and is available to follow our patients. Welcome Dr. Hofstatter!

In the News
Direct-to-consumer (DTC) genetic testing has received a lot of press in the past year. DTC testing, often available to consumers via on-line companies, performs genetic testing on a saliva or cheek brush sample that consumers take themselves and send in through the mail. This testing often ‘estimates risk’ for conditions such as prostate cancer and heart disease based on a series of genetic changes. The reliability of such testing and the interpretation of these results are being investigated by the FDA . It is important to note that the validity of genetic testing through approved clinical laboratories is not under question.

Myriad Patent Ruling
The American Civil Liberties Union (ACLU), on behalf of several medical organizations, clinicians, and individual patients, filed a lawsuit against Myriad Genetics Inc. charging that patents on the BRCA1 and BRCA2 genes are unconstitutional and invalid. On March 29, 2010, U.S. District Court Judge Robert Sweet ruled against Myriad Genetics Inc. saying that the patents were “improperly granted” because they involved a “law of nature.” Myriad is appealing this.

Pink Picnic at BJ's
Join us for inspirational guest speakers, a complimentary luncheon and special gifts.

Date: Wednesday, Oct. 6, 2010 at 11:45 A.M.
Location: Your local BJ’s at 1046 N. Colony Rd., Wallingford
Learn More >>

Research Updates
Occult ovarian cancers identified at the time of prophylactic removal of the ovaries and fallopian tubes
Breast Cancer Res Treat. 2010 Feb 24.
This international study found that a small percentage (~2.5%) of healthy, asymptomatic BRCA+ women having prophylactic removal of their ovaries and fallopian tubes were diagnosed with ovarian or fallopian tube cancers at the time of their surgeries. Those women who were diagnosed with ovarian cancer were less likely to have used birth control pills, more likely to smoke, and were older at the time of surgery (51.7 years vs. 46.6 years) than women who were ovarian cancer-free upon prophylactic surgery. The majority of these cancers occurred in BRCA1 carriers. Cancers diagnosed at the time of prophylactic surgery were more likely to be early stage than the other ovarian cancers among BRCA+ women. Despite published recommendations, a review of the available pathology reports showed that the ovaries and fallopian tubes were completely examined in only ~60% of cases but this was more likely to occur at major genetics referral centers than non-referral centers (75% vs. 30%). Therefore, it is recommend that pathologists be made aware of a patient’s BRCA+ status and the guideline that these samples be carefully and completely examined. A special thank you to all of our patients who completed questionnaires, which contributed to this important study.

Update on the Study of Tamoxifen and Raloxifene (STAR) Trial: Preventing Breast Cancer
Cancer Prev Res 2010 3(6):696-706.
This article reports updated, follow-up data from the Study of Tamoxifen and Raloxifene (STAR) Trial, which followed >19,000 women at increased risk for breast cancer who were randomly assigned to take either raloxifene (Evista) or tamoxifen. These data show that raloxifene maintains much of the benefit of tamoxifen in terms of the reduction in risk of both invasive and non-invasive breast cancer with significantly fewer side effects (including fewer cases of blood clots, uterine cancer, and cataracts). This update, along with existing data, confirm that the benefits of both tamoxifen and raloxifene (in terms of breast cancer risk reduction) outweigh the risks (in terms of side effects) making both medications good options for women at increased risk for breast cancer. The choice between the two medications should be based on personal preference and individual risk factors.

Errors in Delivery of Cancer Genetics Services: Implications for Practice
Connecticut Medicine 2010 74(7): 413-423.
In this publication, together with colleagues from across the United States, Yale Genetic Counseling reports a series of 21 cases illustrating negative outcomes of cancer genetic testing performed without counseling by a qualified cancer genetics provider. Three major patterns emerged from analysis of these cases: 1) Wrong genetic test ordered, 2) Genetic test results misinterpreted, and 3) Inadequate genetic counseling. Negative outcomes included unnecessary preventative surgeries, unnecessary testing, psychosocial distress, and false reassurance resulting in inappropriate medical management. Based on these cases and the complexities of cancer genetic counseling and testing, we conclude that it may be unrealistic to expect all clinicians to provide these services and recommend that patients be referred to a certified genetic counselor prior to genetic testing.