Genetic Counseling Service –

Are You At Risk For Cancer?

By Jan Howard

A new program offered by New Milford Hospital-Columbia-Presbyterian Regional Cancer Center will make it possible for individuals to better understand their risk of developing cancer.

In March, the hospital added a Cancer Genetics Program to their cancer services. Genetic counselor Jennifer Scalia, coordinator of the program, will provide cancer genetics counseling at the Regional Cancer Center.

“It’s a program for anyone who is worrying about their cancer risk, because of family history, their own history, or other reasons,” Ms Scalia said.

To evaluate a person’s risk, it is important to do a family medical history. A medical family tree must be prepared, looking at both sides of the family to obtain as much information as possible.

Cancer genetics counseling provides an assessment of both genetic and lifestyle factors that will help individuals understand their risk of developing cancer. Once a person’s cancer risk is accurately evaluated, appropriate preventive options are discussed.

Options may include an increased screening regiment, chemo-preventive medication, lifestyle modifications, and genetic blood testing.

While a person’s history might be suspicious, Ms Scalia said, there are a lot of unknowns.

“We need to collect the family history and do an assessment,” she said. This includes the type of cancers and the age at which they presented.

“We try to inform them as much as possible,” Ms Scalia said. “We offer them preventive strategies to further reduce the risk of cancer. We look at whether the cancers may be caused by gene alteration.”

Clues to the presence of an inherited cancer gene are a strong cancer family history or development of cancer at an unusually young age, Ms Scalia said. Through testing for these genes, it is possible to identify people at higher risk for certain cancers, and offer them strategies to reduce this risk.

“A woman who has breast cancer at a young age raises the suspicion that she may have inherited a cancer gene,” she said. The same is true if there are multiple family members with the same kind of cancer, she added.

She explained different kinds of cancer in the same family or multiple cancers in one person might indicate there is an inherited cancer gene, such as ovarian and breast cancer or colon and endometrial cancer. “They have the same alteration causes,” she noted.

“If a woman had breast cancer at age 40 and her mom had ovarian cancer, we would recommend testing,” Ms Scalia said. The test would indicate if the cancer was caused by a gene mutation. “Once identified, and there are hundreds of gene mutations, and if it is positive, we would recommend predictive testing for family members at appropriate ages.”

Genetic testing, which is a simple blood test, is only offered to families where it appears the cancers are caused by an inherited gene alteration, she noted. The test may show the person has a chance for inheriting the mutated gene or that there is no association.

“Not everyone inherits the mutated gene,” Ms Scalia said. However, she noted, there is a 50-50 chance that a child will inherit it if the mother carries the mutation.

“It is estimated that approximately ten percent of all cancer is predominantly due to inherited factors, with familial breast and ovarian cancer having received the most public attention,” Ms Scalia explained. “We now have the capability to identify those individuals who carry a genetic predisposition for cancer and discuss options with them to actually prevent these diseases.”

If the test shows there is a predisposition to colon cancer, the person would need to start having a colonoscopy at an earlier age, 50, than is usually recommended, she said. If a family member was diagnosed with colon cancer at age 50, however, testing would begin at age 40, Ms Scalia said.

Colon cancer is a slow growing cancer. “No one should ever get colon cancer,” she said, if tested routinely. Colon cancer starts with a polyp, she explained. If a person abides by the screening recommendations, he/she should not get colon cancer.

Exercise and fiber in the diet from fruits and vegetables reduce the risk of colon cancer, she said.

She said in one recent case a woman with breast cancer, who has a high risk for ovarian cancer, opted for removal of her ovaries.

In other cases, women with a high risk for breast cancer may also have preventive surgery.

“There are other options,” Ms Scalia said, noting the importance of an annual mammogram, clinical breast exams at least three to four times a year, and monthly breast self exams.

Drugs can help reduce the risk of cancer in high-risk patients. New chemo-preventive medications exist for women at increased risk for breast cancer that are cutting their risk by 50 percent, she said. The drug tamoxifen, taken every day for five years, will prevent breast cancer by 50 percent. There are specific women who would reap the most benefits from such an option, she added.

“As things progress, the surgical option to prevent breast cancer will be pursued less,” Ms Scalia said. However, she said, women with dense breasts, which make it hard to feel lumps, may not feel comfortable knowing they have a predisposition and may still opt to have surgery.

“The good thing about pursuing testing is if someone is identified as gene positive, knowing there is a 50-50 chance her daughter will inherit it,” she said. Knowledge is power.

She said in a recent case a woman whose mother had died from breast cancer and whose sister had ovarian cancer found through genetic testing that she had not inherited the mutated gene.

“It was such great news,” Ms Scalia said. “She was not at a higher risk than the general population. It took away all her anxiety. There is no way she can pass it to her daughter.

“Each sibling has a 50-50 chance of inheriting the gene,” she said. “If it is passed to a male, he will have a predisposition to prostate and male breast cancer.”

“While families at risk can benefit tremendously from genetic testing, knowing this information could be scary,” Ms Scalia said.

Those individuals who test positive for a gene mutation are faced with multiple issues. Will they, or their children, or even grandchildren, face insurance or employment discrimination if their health status becomes known? Will they share this information with other family members who may share the same gene mutation?

On the other hand, a negative test often alleviates tremendous anxieties in individuals concerned about their cancer family history.

Individuals have much more control over their cancer risk than they realize, she said. Genetic makeup will not change, but there are actions that individuals can take to promote their health. This program doesn’t offer any guarantees, but it does allow a person to optimize his/her chances for living cancer free.

The initial meeting with a cancer genetics counselor is usually covered by insurance and there is no risk of health care discrimination.

“It was very worrisome when the mutated genes were discovered between 1994 and 1996,” Ms Scalia said. The people undergoing genetic testing were concerned about possible discrimination, she noted, if their predisposition to cancer became known. Many elected to pay for the testing and to keep quiet about the results, she said.

This was very unfair, Ms Scalia said. “It is a very expensive test. Those who medically needed testing and couldn’t afford it were not pursuing it.”

There are now federal and state laws that protect persons from genetic discrimination, she said. “Hundreds of people nationwide got their insurance to pay for the test.”

If there is still concern from patients, Ms Scalia said she goes over the laws with them. If they continue to be concerned, they may still elect to pay for the testing and keep it private.

Genetic counseling and risk assessment do not equal genetic testing, Ms Scalia emphasized.

“When patients come to see us because they believe they have a strong family history of cancer, the consultation often results in dispelling preconceived notions,” she said.

“But this reassuring knowledge does not mean that patients should be complacent,” Ms Scalia said. “It is important for these individuals to follow the recommended cancer screening guidelines, and to look at their lifestyle risk factors for developing cancer. We can make specific suggestions as to which behaviors warrant attention.

Ms Scalia earned a master’s degree in human genetics from Sarah Lawrence. She hopes to set up the genetic testing program in different parts of the country. She is available at the Regional Cancer Center once a month.

For more information on the Cancer Genetics Counseling Program at the New Milford Hospital-Columbia-Presbyterian Regional Cancer Center or to make an appointment with the cancer genetics counselor, call 860-210-5055.