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Genetic Counseling Helps Diagnose Cancer “In the Genes”

Have you had cancer at a young age or have had two or more cancers such as breast, ovarian or colon, or have a family history of certain cancers? If so, you are eligible for genetic counseling and testing through The Katherine Ann King Rudolph Hereditary Cancer Genetics Program at The Hospital of Central Connecticut.

“Certain individuals have risks for certain diseases based on their hereditary make-up,” said Linda Steinmark, MS, CGC at the HoCC. “We use clues from their personal and family history to figure out what may be going on and what testing we might offer them.”

The test is usually an easy blood test sent to specialized labs where they look at the spelling of the genes to see if there are any changes that can cause a susceptibility towards cancer. The testing is most common for hereditary breast and ovarian cancer; colorectal cancer – either hereditary nonpolyposis colorectal cancer (HNPCC) or that triggered by familial adenomatous polyposis (FAP). Other cancers, if found to be predominant, can be looked at as well.

“The changes are called mutations in genes we all have. These genes produce proteins to protect against cancer. If there is a mutation, that means the genes are not working and you don’t have that protein to protect against cancer,” said Steinmark. “There are several different systems like that in our body.”

This means the person has a high probability of getting cancer. A person with a BRCA1 or BRCA 2 gene mutation, for example, means they have at least a 50-85 percent chance of having breast cancer in their lifetime. The average woman has a 12.5 percent chance of getting breast cancer.

Counseling also takes place to provide support for those who test positive for a gene mutation. Higher risk patients do get initial counseling as well. If you choose testing, you’ll meet with the counselor about two to three weeks after testing to learn what results may mean for you and your family. Support is offered to help share information with family members.

If test results indicate a genetic mutation that increases cancer risk, the genetic counselor will present treatment options for the patient to discuss with his or her doctor.

A higher level of screening could then take place as well as medications or surgeries to help prevent cancer from occurring.

Genetic counseling has been around since the 1970s, but cancer genetic counseling came to HoCC in September 2009.

“In 2008 Bruce Rudolph gave a lead gift of $250,000 to The Katherine Ann King Rudolph Hereditary Cancer Genetics Program at The Hospital of Central Connecticut. He gave the gift in memory of his wife, Katherine Rudolph. The hospital’s program is part of a regional genetic counseling and testing program that includes Hartford Hospital and St. Francis Hospital and Medical Center,” said Kimberly Gensicki, Senior Marketing Communications Specialist at HoCC. “The fund remains the primary basis of the program.”

“I encourage people to come in and ask questions,” said Steinmark. “We are happy to go through a risk assessment and answer questions. Some may feel testing is appropriate and others may find that they feel safe and don’t need testing.”

Physician referral is recommended for genetic counseling and testing, and insurance usually covers testing for patients at risk of hereditary cancer.

“If people are anxious about cancer or feel there might be a pattern we will go through this with them in an individual way,” said Steinmark. “If you do have a genetic change it is empowering to know about it because your screening changes and what you do to prevent cancer changes and it provides a tool for all your family members.”

It is best to first discuss this option of testing with your regular doctor and talk to family members to see what the history of cancer is in your family.

For more information, please call (860) 224-5900 x6630 or visit www.thocc.org/services/cancer/genetics.aspx