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
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
Who was diagnosed with
cancer and how are you related?
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
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
and BRCA2 genetic mutations
increase the risk of breast and ovarian cancer in women and breast and prostate
cancer in men.
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.
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.
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.
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
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.
Updated on: 2/2/2017