Genetic Services When, Where, How
If cancer runs in your family, when do you need genetic services?
There are many features that can be present in a family that would indicate a referral is needed for genetic services. The following is a general or partial checklist of characteristics that may indicate an increased risk of familial cancer or a heritable cancer syndrome. The symptoms of genetic diseases may resemble other conditions or medical problems. Always consult your physician for a diagnosis and a complete list of characteristics:
Family History
a family history of multiple cases of the same or related types of cancer
one or more relatives with rare cancers
cancers occurring at an earlier age of onset than usual, for instance, under the age of 50 years in at least one member
bilateral cancers which are two cancers that develop independently in a paired organ, i.e., both kidneys or both breasts
one or more family members with two primary cancers two original tumors that develop in different sites
Ashkenazi Eastern European Jewish background
Where to find genetic services
Genetic services are usually available in large hospitals or medical centers. The local phone book or physician directory may help you identify a genetic service provider in your area. Consult your physician for more information.
The National Cancer Institute has a Web site available to search for cancer genetic professionals by geographic area. This Cancer Genetics Services Directory is a directory of individuals who provide services related to cancer genetics; cancer risk assessment, genetic counseling, genetic susceptibility testing, and others. The link is listed on the Online Resources page of this Web site.
How genetic services can help
Genetic services can provide the following
information about the significance of your family history in terms of your risk of developing cancer and the chance that you have a cancer genetic syndrome
a diagnosis of a cancer genetic syndrome by physical examination and/or genetic laboratory testing
details about the availability of genetic testing for cancer risk and the pros and cons of such testing
information about how/why a cancer genetic syndrome occurred, in most cases
details about the chance for the cancer genetic syndrome to reoccur in the family and individual relatives chance of having and passing on a mutation in a cancer susceptibility gene
recommendations for the management and treatment of the cancer genetic syndrome
support groups for the cancer genetic syndrome
connections to other families who have a similar/same disorder
ITS ALL ABOUT MY PATIENTS- A story from Stanford University
When Jennifer Nolan Lyon got married, she eschewed gifts of crystal and silver and instead asked wedding guests to support breast cancer vaccine research at Stanford. This was a way the committed, cause-based marketing strategist could thank Ellie Guardino, MD, PhD, the oncologist who’d treated Jennifer’s breast cancer two years earlier. In the laboratory, Guardino is developing vaccines to treat and prevent aggressive, high-risk breast cancer.
Jennifer was diagnosed with breast cancer at age 32. She had no family history of breast cancer. Her tumor was discovered purely by chance, during a checkup for what she’d thought was a pulled muscle.
Breast cancer certainly wasn’t part of my equation. My career had taken off, and I’d just fallen in love. Jennifer says.
It’s popularly believed that younger women don’t get breast cancer. While it’s true that breast cancer affects a lower percentage of women younger than 40, it is still the leading cause of death in women ages 15 to 54.
GET THE PATIENT BACK INTO HER LIFE
A few days after receiving the news, Jennifer came to the Stanford Cancer Center, where she met Dr. Guardino and the team of surgeons, radiation oncologists and other specialists who would treat her breast cancer.
Jennifer had a mastectomy, followed by chemotherapy, radiation and hormonal therapy. She received genetic counseling and went through fertility preservation. Guardino guided the treatment plan, which emphasized both physical and emotional wellness, including nutrition counseling and participation in support groups and physical and relaxation therapy.
As a physician, my goal is to get the patient back into her life, Guardino says. Yes, treatment includes understanding the biology of the tumor in order to eliminate it. But I also must know the patient to keep her whole through chemotherapy, targeted therapy and five years of hormonal therapy. That means embracing her as an individual and appreciating the complexity of her relationships and support systems.
Jennifer’s boyfriend, Ashley now her husband, accompanied her to every appointment. A different man might have said I didn’t sign up for that, but the experience brought us together. The couple became close to Guardino, who they called the bright light around us.
EDUCATING THE IMMUNE SYSTEM
Guardino’s devotion to her patients drives her intellectual curiosity in the laboratory, where she is exploring the use of biologic treatments, including immunological approaches and recombinant gene therapy, for early, high-risk breast cancers and for advanced breast cancer. She currently is conducting a clinical study of a vaccine against HER2-positive breast cancer that has metastasized or spread.
Up to 30 percent of human breast cancers are associated with an overabundance of the HER2/neu cell surface receptor protein, which continuously tells the cancer cell to grow, resulting in an aggressive disease that is difficult to stop.
There is evidence that some women who have metastatic breast cancer have defects in their immune system, suggesting that they lack the normal immune surveillance against cancer. These immune deficiencies are also likely to contribute to breast cancer recurrence, Guardino says.
Guardino’s group is using a vaccine for advanced, high-risk breast cancer that delivers an excess of the HER2 target molecule to generate a robust immune response – or educate the immune system to recognize and destroy breast cancer cells as they arise. Studies she does in the laboratory examine the protective immune response that is generated after vaccination. She hopes to expand the study to include early-stage breast cancer to prevent recurrence or metastasis.
In collaboration with Stanford immunologists, Guardino will identify deficiencies of the immune system that result in breast cancer development or recurrence and demonstrate the vaccine’s ability to overcome these limitations. She hopes that the vaccine eventually will be used to prevent this aggressive, high-risk type of breast cancer, and that the approach might be used to develop other vaccines to treat and prevent other types of breast cancer.
GIVING SOMETHING BACK
Because of her experience at Stanford and the relationship she developed with Guardino, Jennifer Nolan Lyon has become an activist for breast cancer survivorship and vaccine research.
How do you thank the people who changed your life? By changing the way for others. By telling everyone whose life has been touched by breast cancer. That means all of us. By being here, I can be part of something much bigger than breast cancer – preventing it, Jennifer says.
A special Thanks to the entire Breast Cancer Research teams, Doctors, Surgeons, Labs and Patients at Stanford University
