Fall 2008
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Fall 2008 Document Transcript

  • 1. For individuals and families with a history of cancer Fall 2008 NEWSLETTER OF THE CANCER GENETIC COUNSELING SERVICE Fall 2008 Our Family Tree has Grown! Welcome to the Fall edition of Pass It On. We have W e are excited to announce two new members of the Cancer Genetic Counseling Team! some exciting changes in our program to share with you! Also, we are going GREEN! While our Jennifer Barrick, MS joined our team in May as a newsletter will remain available on our website, we genetic counselor. Jennifer did her undergraduate work at Michigan State University where she earned her Bachelor of would like to move towards an electronic mailing for Science degree in Microbiology with a concentration in those of you who have an email account. We will be Molecular Genetics in 2006. During her time at MSU, she making this transition over the next year and may be worked in an immunology and genetics research laboratory. contacting you to make sure that you would like to Although she enjoyed genetics research, she wanted to help remain on our mailing list. Wishing you and your educate and serve as an advocate for patients and the families a happy holiday season! community. Genetic counseling was the perfect fit. She went on to graduate school at Wayne State University where she received her Master of Science degree in Genetic Counseling in Sincerely, 2008. During her graduate studies, she became passionate Nancie Petrucelli, MS about counseling patients in the cancer setting because unlike other genetic specialties she feels that she can provide Jennifer Barrick, MS important information and medical management options to aid in the early detection and prevention of hereditary cancers. Michael Simon, MD, MPH Jennifer has lived in Michigan for over 17 years, and currently Nazik Hammad, MD, MS resides in Wixom. She enjoys reading, golfing, traveling and spending time with friends and family in her spare time. Gerald Feldman, MD, PhD, FACMG Nazik Hammad, MD, MS joined our team in October as a GI Oncologist with an interest in cancer genetics. Dr. Hammad obtained her medical degree from the University of Khartoum in Sudan. She has a Masters degree in immunology from the University of Toronto. She has done her residency in internal medicine at Wayne State University. She practiced as an internist at the Marshfield Clinic in INSIDE… Wisconsin prior to joining the hematology/oncology fellowship program at Wayne State University School of 1 What’s New at the Cancer Genetic Counseling Service Medicine/Karmanos Cancer Center. She finished her fellowship in August of this year. She spent her last year of 2 Direct-to-Consumer Genetic Testing/Ovarian Cancer fellowship rotating in GI oncology and in clinical cancer genetics. When asked about how her interest in genetics Screening/Modifiers of Cancer Risk began, Dr. Hammad says, “I became interested in hereditary cancer genetics because of my interest in GI cancers and also 3 Resources/Should Children be Tested in breast cancer where the management of high risk families has become an integral part of the management of these cancers. Moreover, the biology of hereditary cancer syndromes 4 CGCS Clinics/Contacting Us has taught us and continues to teach as about cancer biology in general, not only in terms of etiology and prevention but also in terms of response to chemotherapy and other treatment modalities as well." We are very pleased to have Jennifer and Dr. Hammad join us and know that they will be an asset to our program! Pass It On… 1
  • 2. Direct-to-Consumer Marketing Genetic Factors That Can Modify BRCA Mutation of Genetic Tests Carriers’ Risk of Developing Breast Cancer Traditionally, genetic tests have been available only Jennifer Barrick, MS through qualified healthcare providers such as physicians, As you all may know, the BRCA1 and BRCA2 genes were discovered nurse practitioners, and genetic counselors. Healthcare in 1994 and 1995 respectively. Also, we know that mutations or providers determine the appropriate test, facilitate the changes in these two genes can significantly increase a woman’s risk collection of samples to be sent to the laboratory, and of developing breast cancer along with a few other cancers. However, interpret the test results. Direct-to-Consumer (DTC) the risk for developing breast cancer is not 100 percent. For those genetic testing refers to genetic tests that are marketed who carry a BRCA mutation, these risks vary from study to study, directly to consumers via television, print advertisements, ranging anywhere from 40-87 percent. So many are asking, why such or the Internet. a large discrepancy in risk? The growing market for DTC genetic testing may promote There are several environmental factors that we know can increase awareness of genetic diseases, increase access to genetic one’s risk of developing breast cancer such as diet, weight, exercise, testing, allow consumers to be more proactive in their age at the time of first birth, age of onset of menarche (period) and health care, and offer convenience. However, these at- onset of menopause, as well as longer periods of estrogen home genetic tests have significant risks and limitations. replacement therapy use. In addition to environmental factors, current The Food and Drug Administration’s (FDA) data review of literature is pointing towards certain genetic factors that can increase one’s risk of developing breast cancer. the impact of DTC marketing has shown that while such advertisements increase consumers’ awareness about Genetics Review and Polymorphisms various diseases, they fail to accurately convey risk As you may remember, our cells contain all of our genetic information, information and furthermore, can mislead the consumer which is packaged into structures called chromosomes. These and cause unnecessary anxiety. Without guidance from a chromosomes contain all of our genes. Genes are made up of DNA, which is the alphabet that encodes important building blocks that healthcare provider, consumers may make important enable our body to function properly. Polymorphisms are small management decisions based on inaccurate, incomplete, or changes in the spelling of our DNA. Most polymorphisms are misunderstood information about their health. harmless; we all have them, which make us unique from one another. Genetic test results not only apply to the individual, but “Single Nucleotide Polymorphisms” (SNPs) are single letter have implications for other family members as well. polymorphisms. However, some SNPs have been implicated as Furthermore, other factors such as lifestyle choices and increasing one’s risk of developing breast cancer. family history can also affect a person’s risk of Current Research developing many disorders. Therefore, the standard The Consortium of Investigators of Modifiers of BRCA1 and BRCA2 recommendation of many professional organizations (CIMBA) was established in 2005. Currently, there are 30 groups including the American College of Medical Genetics from North America, Europe, Australia, and Israel who are contributing remains that, pretest and posttest counseling of to CIMBA projects. Two studies under CIMBA have implicated SNPs individuals and families regarding the medical significance in four genes that can potentially increase a BRCA mutation carrier’s of test results and the need, if any, for follow-up is the risk of developing breast cancer. SNPs in FGFR2, MAP3K1, and RAD51 have been associated with an increased risk for breast cancer responsibility of the healthcare provider and is critical in in BRCA2 carriers, but not in BRCA1 carriers. A SNP in the gene the genetic testing process. TNRC9 has been associated with an increased risk for breast cancer in both BRCA1 and BRCA2 carriers]. If a woman has a normal copy of both genes (FGFR2, MAP3K1, TNRC9, or RAD51), she is thought to be at the lower end of the risk range. If a woman has two copies of OvaSure – Ovarian Cancer Screening Test abnormal SNPs in either of these genes, then she is thought to be at the higher end of the risk range. The exact risk that these SNPs pose LabCorp, a commercial laboratory recently announced that it to women who carry BRCA1 or BRCA2 mutations has yet to be will make OvaSure - a blood test analyzing specific biomarkers determined. licensed from Yale University that may discriminate between women who have ovarian cancer and those who do not - available as a At a local level, the Genetics Registry at Wayne State University was screening test to women at high risk of ovarian cancer. However, established in 1999 through the Cancer Genetics Research Program. gynecology and cancer experts have raised serious concerns about the Dr. Michael A. Tainsky and the Karmanos Cancer Institute are test. Websites Offering Resources and Support Based on data, it appears as though only a small number of recruiting study participants through the Cancer Genetic Counseling Service, in part to learn more about modifiers of BRCA1 and BRCA2 women with an abnormal test result will actually have ovarian cancer. In other words, there will be many false positive results. mutations. Dr. Tainsky’s group is looking at SNPs in genes, as well as Given these concerns, the Society www.bebrightpink.org of Gynecologic Oncologists, issued at modifiers of gene expression called “methylation” that could turn off the following statement: “After reviewing the OvaSure’s materials, it a tumor suppressor-type gene (like BRCA1). They are attempting to is our opinion that additional research is Brilliant. Betest’s Be needed to validate the Bold. Be Bright Pink. Bright Pink is a uniqueother genes determine if methylation of certain regions of BRCA1 and nonprofit organization that providesincrease a BRCA1 support, and a sense of developing effectiveness before offering it to women outside of the context of a research study.” can education, or BRCA2 mutation carrier’s risk of community certain types of cancer. In the meantime, women who areyoung women who are at high risk for breast and ovarian cancer. to at an increased risk of ovarian cancer including those who have BRCA mutations and those with It is important to note that research is still ongoing and that genetic Lynch syndrome (hereditary nonpolyposis colorectal cancer testing for these modifiers is not yet indicated in BRCA1 or BRCA2 https://familyhistory.hhs.gov/ mutation carriers. However, it is promising that future testing of these syndrome) are encouraged to participate in clinical trials (http://www.cancertrialshelp.org/) of new ovarian cancer screening Thanksgiving will be the fifth more personalized informationbe identified could or BRCA2 strategies and should discuss this with a genetics professional. modifiers and others that have yet to provide annual National Family History Day. This about a BRCA1 potentially web-based tool helps users organizeto develop history information for mutation carrier’s risk family breast cancer. see presentation to their health care provider. Learning about your family’s health history may help ensure a longer, healthier future together. Pass It On… 2 www.Vitaloptions.org Vital Options was the first psychosocial and advocacy organization for
  • 3. In the Spring edition of Pass It On, we discussed disclosing positive test results to children. To continue this theme of genetic testing and children, this article addresses the question of whether kids should be tested for adult onset inherited cancer syndromes such as hereditary breast and ovarian cancer (HBOC). HBOC is due to mutations in the BRCA1 and BRCA2 genes and increases the lifetime risk of breast and ovarian cancer as well as other cancers including prostate cancer, male breast cancer, pancreatic cancer, and melanoma. As more and more women with breast cancer are undergoing genetic testing, more parents are faced with a tough decision: Should their children be tested? Recent studies and interviews by the Associated Press show that many people who have BRCA mutations, and even more of their children say, yes. Research has shown that there are benefits to at least talking about genetic testing and inherited cancer risks with teens. It led some to quit smoking, one study found. However, researchers are still grappling with whether it is ethical or good to test minors. To lower cancer risk in female BRCA carriers, women can consider taking anti-estrogen drugs or having their breasts or ovaries removed. But these measures are not recommended for very young women. Even mammograms and breast MRI are not typically advised until age 25 in carriers, because cancer is rare before then. The American Society of Clinical Oncology (ASCO) recommends that “the decision to offer testing to potentially affected children should take into account the availability of evidence-based risk reduction strategies and the probability of developing a malignancy during childhood.” In other words, when the risk of childhood cancer is low and nothing can effectively be done in childhood to reduce it, testing should be delayed until the individual is of sufficient age to make an informed decision regarding such tests and when something can be offered that will help. As Dr. Mary-Claire King, the University of Washington scientist who in 1990 discovered BRCA1, says, “The rule is, do no harm-test only if you can offer something that will help”. She goes on to say, “The life of a young girl is complicated enough already. There is nothing about it that needs to change” if she carries one of these gene mutations. Parents are encouraged to discuss these issues in detail with a genetics professional to help them consider all aspects of testing a minor and ensure that they are not unintentionally doing harm to their child. Pass It On… 3
  • 4. Cancer Genetic Counseling Service Clinics Detroit Walt Breast Center and Wertz Clinical Cancer Center Farmington Hills Weisberg Cancer Treatment Center Midland MidMichigan Medical Center – Midland Rochester Crittenton Hospital Medical Center 1-800 KARMANOS www.karmanos.org If you would like your name This newsletter is produced by the: removed from the ‘Pass It On’ Cancer Genetic Counseling Service mailing list or know someone who Barbara Ann Karmanos Cancer Institute would like to be added, please Wayne State University contact us at: 4100 John R, 4HWCRC Detroit, MI 48201 (313) 576-8748 (313) 576-8748 Pass It On… 4
  • 5. Pass It On… 5