Making a connection: The benefit of registries
“There is a lot of cancer in my family, but my genetic testing was negative. It’s a reassuring feeling but also frustrating, since we don’t have an answer.”
“I tested positive for the gene mutation running in my family, although I’ve never been diagnosed with cancer. I wish there was some way for me to contribute to new developments in early detection or even cancer prevention.”
“I have heard that genetic testing improves over time and new genes are being discovered…how can I know when there is additional testing available that might be beneficial to me and my family?”
Do any of those statements sound familiar to you? Many people who have cancer in their family wonder how it is being caused and how it might impact their own health and screening as well as for their family members and children. They might also want to keep in touch with new developments in cancer genetics and treatment, which are increasingly being discussed in the general media and health community. Registries are one way to achieve this by keeping families with cancer in touch and by collecting information to better understand cancer development, ultimately to improve care for those at risk.
There are two main types of registries: population-based and clinic-based. Population-based registries collect information across a larger range of patients and are usually operated by state governments or other public organizations. Clinic-based registries typically obtain patient information from high-risk clinics, and therefore attract patients who are more likely to be at risk for hereditary cancer or have an identified gene mutation in their family. Registries are usually free to join and in most cases involve filling out a detailed questionnaire, although sometimes blood and/or tumor tissue samples may be requested. They are able to link participants with ongoing research studies to investigate cancer prevention and treatment, and keep individuals up-to-date on newly available information in the field of cancer genetics. Researchers working with registries hope that this gathered information will lead to improved personalized risk assessment, testing, screening and treatment for cancer. There are now more registries focusing on minority populations, which are traditionally under-represented in research studies for cancer. Registries are able to notify individuals if they are eligible for certain research studies based on their medical or family history of cancer, or if new therapies or genetic tests come available that might be applicable to them.
This information will be helpful not only to those who have a personal or family history of cancer, but also to the general population. Already, several registries have used such information to learn more about how genes and environment lead to cancer. Some registries are closely tied with research studies that are looking at characteristics of certain cancers in individuals who carry a gene mutation for hereditary cancer. This includes families with hereditary breast and ovarian cancer and hereditary colon cancer. The goal is to eventually develop new therapies and screening measures that are specific to those cancers. For example, research has recently found that individuals diagnosed with colon cancer that demonstrates DNA mismatch repair are less likely to respond to a standard chemotherapy called 5-fluorouracil (5-FU). This is likely to impact the treatment for colon cancer patients who have Lynch syndrome, which is a hereditary cancer syndrome caused by a mutation in a DNA mismatch repair gene. For women with breast or ovarian cancer who carry a BRCA1 or BRCA2 gene mutation, research is ongoing to determine whether PARP inhibitors are a more effective treatment for these types of cancers.
Now more than ever, family members are becoming more open with one another and sharing information about their health including cancer and genetic testing. This is especially true as we are learning more about cancer and developing interventions and preventative measures for cancer. Registries are an important tool in this effort, as well as a great resource for communicating information to families from the cancer research world.
Interested in learning more about a specific registry?
NCI Registry Resource: http://epi.grants.cancer.gov/CFR/
Family Cancer Genetics Network: http://fcgn.org/
Facing Our Risk, of Cancer Empowered resource for registries and ongoing research pertaining to breast and ovarian cancer:
http://www.facingourrisk.org/finding_health_care/clinical_trials_and_research.html
Collaborative Group of the Americas on Inherited Colorectal Cancer: Find a registry: http://www.cgaicc.com/Default.aspx?tabid=51
Program News and Updates:
Susan G. Komen for the Cure Indianapolis Affiliate Breast Cancer Educational Symposium: Everything You Want To Know, But Are Afraid To Ask
The Komen Indianapolis Breast Cancer Symposium is taking place on Saturday, May 16th at the Fountains Conference Center, 502 E. Carmel Drive, Carmel IN. The conference starts at 8:30 a.m. and goes until 1:30 p.m. There will be several excellent speakers, free giveaways and breast cancer risk assessment screening will be available using a computer risk assessment program. Among the presenters, Dawn McIlvried, M.S., C.G.C., and Rachael Glasser, M.S., M.A., L.M.F.T., will be speaking on “Hereditary breast cancer…A family issue: Obtaining and sharing medical and family history.” Julie Schneiders, M.S.N., N.P., who works with the Breast Risk Assessment Program at St. Vincent Hospital will be giving a workshop “Early detection and risk reduction: Is it possible?” The event also includes a complimentary breakfast and keynote luncheon. It is free to the public although registration is requested; see the link below for more information.
http://www.komenindy.org/new.asp?p=81
Article Highlighting Hereditary Colon Cancer and the St. Vincent Cancer Genetics Risk Assessment Program Published in Healthy Spirit
An article featuring hereditary cancer and genetic testing, “Detecting cancer early: How genetic testing can help,” was recently featured in the March-May issue of Health Spirit. The article focuses on hereditary colon cancer and tells the story of how one family made decisions regarding genetic testing for Lynch syndrome. They discuss their interactions with the genetic counselors, other family members, and ultimately how the knowledge gained from genetic testing helped empower the family to make decisions regarding their health care for increased screening and early detection. You can subscribe to Healthy Spirit Magazine through the following link:
http://www.stvincent.org/ourlocations/hospitals/indianapolis/healthy_spirit_mag/default.htm
Update on the Genetic Testing Survey Posted on FORCE
The Cancer Risk Assessment Program is interested in learning more about the process of genetic testing for hereditary cancer, including who orders these tests, whether or not genetic counseling is part of the testing process and who provides it and how the results are being communicated to patients. The survey, which was posted on the FORCE website, is now closed, and we had an excellent response! Much thanks to everyone who participated. Efforts are now underway to analyze and interpret the information gained from the survey responses, with plans to publish this information. Our hope is that this information will ultimately be used to develop more a effective genetic testing process while preserving quality patient care, as testing for hereditary cancer is starting to become more widely used by health care providers in a variety of settings. We will keep you posted on outcomes from this study!
