Cancer and Genetics

Hereditary Cancer Information
Cancer is a common, complex disease that still has many unanswered questions. All types of cancer have a genetic component, but only a small percentage of cancer cases are part of a hereditary cancer syndrome. Advances in cancer genetics have led to the identification of genes that, when altered, cause a significantly increased risk for certain cancers within a family. A family cancer risk assessment can help individuals and families make informed decisions about their options for cancer screening, cancer risk reduction, and genetic testing. This assessment is an educational consultation provided by a certified genetic counselor with special training, experience and interest in cancer risk assessment.

What to look for when a hereditary cancer syndrome is suspected in a family?

Clustering of certain types of cancer within a family
Cancer occurring at younger ages than expected
Cancer in several close relatives
Cancer in more than one generation
More than one type of cancer in the same individual
Families that include diagnosis of rare cancers

What can I learn from a family cancer risk assessment?
A thorough review of family and medical history information can provide a more accurate cancer risk estimate for you. The assessment can also help identify other family members who may have an increased risk for developing cancer. Genetic testing options, along with their benefits and limitations will be discussed. Cancer screening and cancer risk reduction information will also be reviewed, however, decisions about how to proceed with your medical management will be decided by you and your doctor.

What are the benefits of a risk assessment?
Part of the risk assessment process is deciding whether or not genetic testing is right for you and your family. Education about cancer genetics and genetic testing can sometimes be helpful in making decisions about your future medical care. It is important to think about how these test results can impact your life and what you would do differently with a positive or a negative result.

What information will I need for an evaluation?
Obtaining a more accurate estimate of your personal family cancer risk may increase the chance of early cancer detection through an individualized screening plan. Knowing whether or not you carry a genetic alteration that predisposes you to develop cancer can be helpful when deciding between screening surveillance or surgical options. In some cases, you may become aware of increased risks for more than one type of cancer. A risk assessment allows you to gather information to make the best decisions about genetic testing for yourself. In certain situations, you and your family members might be reassured that you are not at increased risk of cancer and do not need extra cancer screening or procedures (above and beyond what is recommended for the general population).

Being knowledgeable about your family history can help to facilitate a more accurate cancer risk evaluation. Important information includes:

Who in the family has been diagnosed with cancer
How old were they when diagnosed with cancer (age of diagnoses for each primary cancer)
Where their cancer started (e.g. breast, colon) and if it was present on both sides (e.g. in both breasts or both ovaries)
What is your family's ancestry (e.g. Ashkenazi Jewish descent)
Whether anyone in the family has undergone genetic testing

Documentation of cancer diagnoses is an important part of the cancer risk assessment. Whenever possible, pathology records should be obtained for members of the family who have had cancer or suspected cancer. In some cases, other medical records, death certificates, pathology specimens, etc. can be helpful. Please contact us for instructions on how to obtain these records.

What can I expect to happen during my visits?
Your first contact with the genetic counselor is usually by phone. Initially, questions will be answered about the service and you will be asked for some preliminary information regarding your family history. You may be asked to collect more detailed family history information prior to your appointment. The first visit lasts approximately 1-2 hours and subsequent visits are shorter. During these visits:

Your medical and family histories will be obtained and a detailed family tree (pedigree) will be drawn
You will receive background information on cancer, cancer genetics, risk and related topics
An individualized cancer risk assessment will be provided, based on analysis of collected information (sometimes a risk assessment is not possible during the first visit, particularly when more family history information is needed)
When appropriate, the option of genetic testing will be addressed and the genetic counselor will coordinate the testing (having blood drawn)
At the time your blood is drawn for the test, a results consultation is scheduled
During the results session, strategies and options for cancer screening and risk reduction will be discussed, along with corresponding benefits, risks and limitations. You and your doctor will decide which course of action is most appropriate for you.

How much does a family cancer risk assessment cost?
The process of providing a family cancer risk assessment takes place over the course of 1 to 3 sessions. There is a flat rate fee for the genetic counseling process payable at your first visit. If you choose to pursue genetic testing, there is a separate fee payable to the laboratory performing the test. Genetic testing can be expensive, however the labs providing these tests will work with your insurance company to obtain coverage. Please contact us for more detailed information.

Am I a good candidate for a family cancer risk assessment?
If you are concerned about a history of cancer in yourself and/or your family, you may benefit from a consultation with a genetic counselor.

For more information about the service or to make an appointment, contact:
Piedmont Healthcare
Clinical Genetics
4890 Roswell Road, Suite 170
Atlanta, GA 30342
(404) 845-1234

Hereditary Breast and Ovarian Cancer

Background Information
Breast cancer is the most common type of cancer in the United States. Approximately 1 in 8 women will develop breast cancer sometime during her lifetime. Ovarian cancer is less common. Around 1 in 55 women will develop ovarian cancer during her lifetime.

Breast and/or Ovarian Cancer in Families
Most cases of breast and ovarian cancer are not hereditary. Hereditary means the cancers are associated with a single gene alteration that is passed down through the family. The gene can be passed through the father's or the mother's side. Only about 5-10% of breast and ovarian cancer cases are hereditary.

Breast and Ovarian Cancer Genes
Alterations in two genes, discovered in the 1990's, are involved in the majority of families with early on-set breast and/or ovarian cancer. These genes are called BRCA 1 and BRCA 2. "BR" stands for breast and "CA" stands for cancer. The numbers "1" and "2" represent the order in which they were found.

Hereditary Breast and Ovarian Cancer Risks
Everyone is born with BRCA 1 and BRCA 2 genes. However, some individuals are born with an alteration or mutation, in one of these genes. For women who have inherited an alteration in either BRCA 1 or BRCA 2, the risk of developing breast cancer by age 70 is approximately 50-85%. The lifetime ovarian cancer risk for women with a BRCA 1 or BRCA 2 alteration ranges between 10-60%. These statistics are significant when compared to the general population risk, which is 7% by age 70 for breast cancer and 1-2% by age 70 for ovarian cancer.

Am I at an increased risk for carrying an alteration in BRCA 1 or BRCA 2?

Have you had a diagnosis of breast cancer before age 40?
Have you had bilateral breast cancer or have you had breast and ovarian cancer?
Have you been diagnosed with breast cancer or ovarian cancer and do you have several close relatives who have had breast and/or ovarian cancer (especially before age 50)?
Do you have several close relatives who have had breast cancer and/or ovarian cancer (especially before age 50)?
Do you have any male relatives who have had breast cancer?
Does your family have Ashkenazi Jewish ancestry and have you and/or a close relative been diagnosed with breast and/or ovarian cancer?
Do you have a blood relative who has had a positive genetic test for BRCA 1 or BRCA 2, the genes associated with a hereditary breast/ovarian cancer syndrome?

If you answered "YES" to any of these questions, you may be at an increased risk for carrying an alteration in one of the genes associated with a hereditary breast/ovarian syndrome.

Is cancer genetic testing right for me?
There are many factors to take into consideration when trying to decide if genetic testing is right for you. A cancer risk assessment and counseling session can help you make the best, most informed decision. This assessment can provide you with a better understanding of your personal risks and the options available to you and your family, regardless of whether or not you decide to pursue testing.

To learn more or make an appointment, contact:
Clinical Genetics, Piedmont Healthcare (404) 845-1234

Genetics and Insurance Discrimination

What is genetic discrimination?
Genetic discrimination happens when a person who has an inherited disorder or a predisposition to develop an inherited disorder is treated differently based on that genetic information. Genetic information pertains to family history of a disease, genetic test results or the genetic test results of a family member.

Who is at risk for genetic discrimination?
Anyone can be at risk to face genetic discrimination at any time. In the future, the human genome will reveal genetic components to virtually all common diseases. If family history is used as genetic information, then individuals could be at risk for genetic discrimination without ever undergoing genetic testing.

Health insurance and genetic discrimination laws
The federal government and most states have laws in place to prevent employers and insurance companies from discriminating against individuals with hereditary conditions. At the federal level, the Health Insurance Portability and Accountability Act (HIPAA) protects people with group health insurance by preventing health insurance companies from:

denying insurance
canceling insurance
rates individually increasing due to a pre-existing condition

In order for HIPAA to apply an individual must have had health insurance for at least 12 consecutive months, without a lapse of 63 consecutive days or longer. HIPAA does not prohibit health insurance companies from denying coverage or increasing the rates of an entire group based on the medical records of one person. HIPAA also does not prevent insurance companies from asking individuals whether or not they have had genetic testing, even though they cannot use the information. Finally, HIPAA does not provide protection to people with individual health insurance plans. State laws may provide additional measures of protection. Since these laws vary state to state and are constantly changing, it is important to research your states current laws.

Life insurance and genetic discrimination laws
There are currently no laws in place to protect individuals against life or disability discrimination based on their genetic information.

Benefits vs Risks
Documented cases of genetic discrimination are rare. The benefits of knowing your genetic test results can outweigh the potential risk of having to face discrimination. This is particularly true if genetic test results will influence your future medical management options. It is important to base your decisions off of current, credible information.

Where can I learn more about genetic discrimination?
To learn more about genetic discrimination, please visit these website:

Department of Health and Human Services
www.hhs.gov/ocr/hipaa
Equal Employment Opportunity Commission:
www.eeoc.gov
National Society of Genetic Counselors:
www.nsgc.org
National Human Genome Research Institute:
www.nhgri.nih.gov/11510227
National Association of Insurance Commissioners:
www.naic.org/state_contacts/sid_websites.htm
National Conference of State Legislatures:
www.ncls.org/programs/health/genetics/charts.htm

Genetic Counseling as a Profession

Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Most enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public health and social work.

Genetic counselors work as members of a health care team, providing information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions. They identify families at risk, investigate the problem present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence and review available options with the family.

Genetic counselors also provide supportive counseling to families, serve as patient advocates and refer individuals and families to community or state support services. They serve as educators and resource people for other health care professionals and for the general public. Some counselors also work in administrative capacities. Many engage in research activities related to the field of medical genetics and genetic counseling.

Adopted by the National Society of Genetic Counselors, Inc. 1983

For more information about genetic counselors, please visit the National Society of Genetic Counselors Website:
www.nsgc.org

Breast Cancer Genetic Counseling and Testing for High-Risk Families now available at Piedmont Hospital at no cost to eligible patients

The cost of genetic counseling and testing for all eligible candidates without insurance or those with insurance that won't pick up the entire bill is now covered at Piedmont Hospital thanks to a grant from the Susan G. Komen Foundation.

Counseling and testing is available to women who have been diagnosed with breast cancer before age 50, women who have been diagnosed with ovarian cancer, and some women with a strong family history of breast and ovarian cancers. Men diagnosed with breast cancer also may qualify.

Genetic counseling and testing is a two-part process. The first session includes evaluation of a woman's family history and pretest counseling. A blood sample also is taken. The sample is then sent off for DNA testing and results are returned within 28 days. A genetic counselor will interpret and explain the results during the second session. Medical management options will be discussed and women are encouraged to consult with their physicians regarding decisions that are appropriate for them.

Genetic testing provides women the opportunity to determine if their breast cancer or their family history of breast cancer may be due to one of two genes that cause hereditary breast and ovarian cancer, BRCA1 and BRCA2. Mutations in these genes drastically increase the risk of developing breast and ovarian cancer. Knowing one's genetic status can significantly alter future medical management. The goal is to prevent the onset of breast or ovarian cancer, or to diagnose and treat cancer in the early stages when it is most curable.