The Center for Medical Genetics of NorthShore University HealthSystem appreciates the opportunity to participate in our patients’ clinical care and is grateful for the commitment from many of our patients to enroll in our research studies. Their participation helps further our understanding of BRCA1 and BRCA2 mutations and how they affect our patients’ health. We would like to share noteworthy events and news occurring in the community of BRCA carriers.
Our progress in research
The widespread research participation by families with hereditary cancers was a key factor in the discovery of the underlying genes and is the reason why genetic testing is now available. Through clinical research, with the support of our patients, we are able to understand more about genetic conditions. This ultimately leads to improved care. We feel it is our responsibility to help develop better screening, prevention, and management options for those at increased risk. Below are several open research studies with which the Center for Medical Genetics is actively involved:
The Prevention and Observation of Surgical Endpoints (PROSE) Study is an international study enrolling women who are BRCA carriers to study how lifestyles, habits, exposures, hormones, preventive surgery and other interacting genes influence cancer risk. Participants fill out a questionnaire and donate a blood sample. Nationally, 10,000 women will enroll in this study, 300 of which will be from NorthShore University HealthSystem. Results have already revealed the effectiveness of prophylactic mastectomy (surgical removal of the breasts) and salpingo-oophorectomy (surgical removal of the ovaries) at reducing cancer risk and the safety of short-term hormone replacement therapy use in BRCA carriers after salpingo-oophorectomy, for women who have not had breast cancer.
Men who are BRCA1 or BRCA2 carriers are at increased risk of developing prostate cancer, about 30% over a lifetime, and may face more aggressive disease. The Center for Medical Genetics has joined the IMPACT study (Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted Screening in BRCA1/2 mutation carriers and controls). IMPACT is an international study to determine the usefulness of available prostate cancer screening methods and to find new and more effective ways of screening men at high risk. We are currently enrolling men age 40 to 69 years with a known BRCA1 or BRCA2 mutation in the family, who have tested positive or negative for a familial mutation. For men who have not yet had genetic testing for a known familial mutation, the Center for Medical Genetics has been fortunate enough to be able to offer BRCA testing for free to IMPACT study participants through a generous philanthropic gift our Center received. Early results of this study have shown that screening in this high-risk population may detect disease at an earlier stage.
The Nipple Sparing Mastectomy has become a desirable option for women undergoing mastectomy. NorthShore University HealthSystem surgeons are studying the ability of this procedure to preserve the nipple while effectively eliminating or preventing cancer and whether the outcome varies based on BRCA carrier status. Women who are electing to have either unilateral or bilateral total mastectomy for treatment of breast cancer and/or for risk-reducing mastectomy are currently being enrolled. Participants are asked to follow-up for 5 years post-surgery with a surgical oncologist and plastic surgeon and to fill out a satisfaction survey prior to surgery and periodically after reconstruction. Participants are asked to complete a MyGenerations™ Cancer Risk Assessment Program.
For further information on any of our research efforts, please feel free to contact our Study Coordinator Tina Selkirk at 847.570.4652 or firstname.lastname@example.org.
Our participation with local support groups
The Center for Medical Genetics has come together with the Cancer Wellness Center in Northbrook and F.O.R.C.E (Facing Our Risk of Cancer Empowered) to facilitate a local support group for BRCA1 and BRCA2 mutation carriers and their families. The Center for Medical Genetics recognizes that patients and families often need additional support outside of office counseling visits once a mutation has been discovered in a family. We understand the need to help with coping with test results, with decision making in management plans, and with sharing genetic information with family members.
Interim Head of the Division of Medical Genetics, Dr. Peter Hulick and the Center’s staff of genetic counselors, conduct quarterly education sessions at the Cancer Wellness Center. Sessions are very well attended and past topics have included a genetic testing overview (Anna Newlin); myths surrounding genetic discrimination with an overview of state and federal protections; hormonal management (Carolyn Kirschner, MD); research opportunities for BRCA1 and BRCA2 carriers through the Center for Medical Genetics (Tina Selkirk); a discussion of family dynamics and sharing results (Kristen Vogel); and a public viewing of the documentary film In the Family (see below) at Wellness House in Hinsdale. F.O.R.C.E. members have been in attendance to share news about their support group and national meetings. The forum provides the opportunity for dynamic discussions between support group attendees and the professional staff.
A new high risk discussion group is being started in May 2009. This will be a 6 to 8 week group tailored to young women, age 20-40 years, at high risk for breast and ovarian cancer based on a strong family history or genetic predisposition (BRCA1/BRCA2). The group will be open to women with the BRCA mutation, women who have not yet been tested, and women who may have tested negative but are high-risk based on a strong non-BRCA family history. Interested participants should contact Liz Perri, M.A. at 847.509.9595.
To find out more about future support groups with the Cancer Wellness Center and F.O.R.C.E., please call the Center for Medical Genetics at 847.570.1029 or visit their respective websites at www.cancerwellness.org and www.facingourrisk.org
In the News
A documentary film, In the Family, by Chicago’s Kartemquin films, produced and directed by BRCA1 carrier Joanna Rudnick, was released in 2008, following families’ experiences as they go through BRCA testing. Dr. Rubinstein served on the medical advisory committee for the film’s production and has participated in panel sessions, along with genetic counselors Kristen Vogel, Anna Newlin, and Scott Weissman following the viewings of the film around the Chicagoland area. In the Family has aired on PBS and has gained national exposure. For more information, see www.kartemquin.com/films/in-the-family
Actress Christina Applegate, diagnosed with breast cancer at the age of 36, also made the announcement that she was found to be a BRCA1 carrier. Her public discussion of BRCA helps to create awareness for others that may be at high-risk. She has also pledged to begin a program that helps raise money to pay for Magnetic Resonance Imaging (MRI) scans and for BRCA genetic testing for women at high-risk.
The Genetic Information Nondiscrimination Act (GINA) was signed into law in May 2008 and will go into effect fully in 2009 (May 2009 for health insurance and November 2009 for employment). GINA prohibits the use of genetic test results and family medical history as a pre-existing condition. The Act protects individuals on the national level from discrimination by health insurance providers and employers. This means that health insurers, regardless of health insurance type, may not require individuals to provide genetic information and may not use genetic information, whether gained purposefully or incidentally, to make enrollment or coverage decisions. Employers may also not use genetic information in making decisions regarding hiring, promotion, terms or conditions, privileges of employment, compensation or termination. The GINA act fills many of the gaps found in existing national and state legislation that protects against health insurance and employment genetic discrimination. For more information about the protections afforded by this act go to the website for the Coalition for Genetic Fairness at www.geneticfairness.org or contact your genetic counselor at 847.570.1029.
Florida State Representative, Debbie Wasserman Schultz, announced that she was diagnosed with breast cancer and found to be a BRCA2 carrier. Her experience has led her to propose the EARLY Act, a national education campaign to increase awareness of risk factors for breast cancer in women under the age of 40 to ensure early detection and risk reduction. The bill includes educational programs for high-risk groups, such as Ashkenazi Jews, who are at an increased risk of carrying a mutation in the BRCA1 or BRCA2 gene. The legislation aims to support young women diagnosed with breast cancer and help them get the assistance they need, including social and emotional support, fertility counseling and recurrence prevention training.