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Know your cancer risk

Genetic counseling: A first step in determining hereditary probability



Editor's note: Unedited video of Kate Hughes speaking to this topic is available for media. Download 720p version here. Download the SD version here. Download accompanying b-roll here.

Anyone who worries about developing cancer due to a family history of the disease may want to consider genetic counseling to help prevent and detect cancer early.

Novant Health offers a genetic counseling program that evaluate your lifetime cancer risks based on your family history of the disease.

“The main types of hereditary cancer that we see among our patients are breast, ovarian, colon and endometrial cancers,” said Kate Hughes, a certified genetic counselor at Novant Health Forsyth Medical Center Cancer Genetics Clinic. “Age at diagnosis and clusters of relatives with cancer are common red flags for family cancer.”

What impacts cancer risk?

The American Cancer Society estimates that about 5 to 10 percent of all cancers are hereditary. People who may be at high risk of cancer due to family history often share a number of characteristics.

A cancer diagnosis of a close relative such as a parent or a sibling, rather than a more distant relative, may raise your risk for certain types of cancers. Even if the cancer was caused by a gene mutation, the chance of its being passed down to you gets lower the more distant the relative.

When determining hereditary cancer risk, each side of a family is looked at separately. If two relatives on the same side of your family have cancer, your risk for cancer is higher. For example, if both your uncles on your mother’s side have colon cancer, your risk for the disease may be higher.

It is a common misconception that only your maternal history matters when evaluating for hereditary cancer, particularly hereditary breast cancer, Hughes said.  “Both sides of a family need to be evaluated. Some people may discount that both aunts on their father’s side had breast cancer, but each side counts equally with genetic risk.”

The type of cancer may also impact the risk. One case of a rare type of cancer in a family may indicate a predisposition.

"Examples of rare types of cancer include cases of pancreatic cancer or ovarian cancer or male breast cancer,” Hughes said. In some families, multiple types of cancer may develop. For example, breast and ovarian cancers appear together in families with hereditary breast and ovarian cancer syndrome. Likewise, a connection exists between colon and endometrial cancers in some families.

“While cancer is not uncommon in the general population, developing multiple types of cancer such as colon and endometrial cancer is suspicious,” Hughes said.

“Some patients will be concerned about lung cancer or leukemia and lymphoma in a family, but these are not hereditary types of cancer in most families,” she added.

The age a relative developed cancer also affects risk. Colon cancer is rare in young people, so if close relatives age 50 or younger are diagnosed with colorectal cancer, there is a higher chance a genetic predisposition to colon cancer exists in your family.

“A family history of breast cancer before age 50 may indicate a predisposition and make you a good candidate for genetic testing,” she said.

What are the benefits of genetic counseling?

Benefits to genetic counseling and testing are clear, according to Hughes. It can ease a person’s mind about getting a cancer diagnosis due to family history. In some cases, it may lead to changes in screening and catching cancer earlier when it can be better treated. Surgical options to greatly reduce cancer risks may also be considered.

A certified cancer genetic counselor can help you determine whether you or your family members should have genetic testing for cancer. Before meeting with a counselor, you need to gather some information. For each case of family cancer, you will want to have answers for the following:

·         Who was diagnosed with cancer and how are you related?

·          What type of cancer is it?

·         How old was the relative at diagnosis?

·         Did this person have more than one type of cancer?

·         Did this person smoke or have other risk factors such as obesity?

“We want a really detailed family history that reaches back to the grandparents’ generation, which includes the type of cancer and age at diagnosis,” Hughes said.

“If family members have already had genetic testing, we like to see a copy of the results,” she added. “If someone in the family tested positive for a particular cancer gene, we can test specifically for that genetic change.”

Hughes also recommends a simple, consumer-friendly online tool to help identify if you are a good candidate for hereditary cancer genetic testing. .

A genetic counselor will work with you to draw up an assessment based on the information and determine whether you might benefit from genetic testing. Novant Health offers genetic testing at the Cancer Risk Clinic at Novant Health Presbyterian Medical Center and the Cancer Genetics Clinic at Novant Health Forsyth Medical Center.

Hughes noted that most insurance will cover genetic testing if patients meet certain criteria and counseling is typically well-covered by insurance, too.

One area of concern for patients who undergo this type of testing is discrimination, Hughes said. But federal law protects most patients with a hereditary cancer predisposition from losing their health insurance, or their jobs, as a consequence of their genetic test results.

How does genetic counseling work?

During the counseling session, the genetic counselor will discuss the benefits and risks of a genetic test. He or she can tell you what the results might mean and what your options might be based on the results. You will want to consider how the test results might impact you or your loved ones and discuss your concerns with the counselor.

Hughes said patients don’t have to take the genetic test the day of the counseling session and may want to take some time to consider their options. If a patient has a blood sample collected for testing that day, they will receive the results in two to four weeks.

Patients are welcome to bring their loved ones to their visit to listen to their discussion. Roughly a quarter to half of patients who come to the clinic for genetic counseling are accompanied by a spouse or children, if they live locally.

Following a genetic test, a certified genetic counselor will interpret the information and share the results with you. Patients can either receive their results by phone or can meet with the genetic counselor face-to-face.

If a patient receives a positive result for increased cancer risk, the genetic counselor can help with next steps. “We can help formulate a plan and discuss treatment options,” Hughes said. “Is surgery the best option or do we screen more aggressively?”

For patients who are not connected to a team of cancer professionals, the counselors will refer them to appropriate providers, Hughes said. They’ll also help family members living in other states get connected to appropriate medical care.

In some cases, genetic counselors will recommend genetic testing for other relatives, too. The patient will also receive a letter to share with family about the test results.

What are common inherited cancer syndromes?

·         BRCA1 and BRCA2 genetic mutations increase the risk of breast and ovarian cancer in women and breast and prostate cancer in men.

·         Cowden syndrome, a PTEN gene mutation, puts women at increased risk of uterine and breast cancer. The gene mutation also increases the risk of thyroid cancer for both men and women.

·         Familial adenomatous polyposis is a disorder caused by a mutation in the APC gene and increases the risk of colorectal cancer, cancer of the soft tissue and brain.

·         Li-Fraumeni syndrome is a rare condition that increases the risk for several types of cancer, including colorectal cancer. It involves mutations of MLH1,MSH2, MSH6 or PMS2 genes.

·         Multiple endocrine neoplasia (MEN) is a group of disorders. MEN1 syndrome is caused by mutations in the MEN gene while MEN2A and MEN2B are due to mutations with the RET gene. Both conditions raise the risk of endocrine cancer.

·         Von Hippel-Lindau disease is caused by mutation of the VHL gene. The condition causes abnormal growth of blood vessels and increases the risk of kidney cancer.

 




Published: 3/10/2016
Updated on: 2/2/2017