Common Cancer Genetics Questions
How much of cancer risk is inherited?
Approximately 35% of cancer diagnoses are associated with familial or inherited
risk: About 5-10% of individuals have a cancer caused by an inherited
cancer syndrome and about 25% of individuals have a cancer associated
with familial risk; Inherited cancer syndromes are typically due to inherited
“errors” or mutations within specific genes that normally
function to prevent cancer. These inherited mutations lead to a loss of
normal gene function and increased risks of developing certain types of
cancer. These mutations can be passed down within families, from generation
to generation. For most inherited cancer syndromes, genetic testing is
available to identify the genetic cause of cancer in the family.
What is genetic counseling?
Familial and inherited risks are shared in families and may be passed down
from parent to child causing increased risks of developing disease thru
generations; genetic counseling is a process of receiving risk estimates,
understanding, management planning and empowerment for individuals and
families who are concerned about their risks. Cancer genetic counseling
is a process of meeting with a licensed certified genetic counselor to
review your personal and family history of cancer and other associated
characteristics, to decipher your and your relatives’ familial or
inherited cancer risks, and to obtain accurate information and compassionate
support. Genetic counselors provide clinically valid genetic testing and
interpretation of test results in order to provide personalized recommendations
for screening, prevention, and risk reduction.
Who may benefit from genetic counseling for a cancer risk assessment?
Any person who is concerned about a personal and/or family history of cancer
may benefit from genetic counseling and risk assessment. A cancer genetic
risk assessment may be particularly beneficial for individuals who have
a personal and/or family history of:
- Cancer (ex: breast, colon or uterine) occurring at an age that is younger
than expected (typically before age 50).
- Two or more family members with the same type or related types of cancer
(ex: breast and ovarian, uterine and colon, pancreas and melanoma).
- A rare or unusual type of cancer (ex: medullary thyroid, pheochromocytoma,
- Ovarian cancer or pancreas cancer occurring at any age.
- More than one type of cancer occurring in the same person (ex: separate
primary cancers, not a single metastatic cancer spreading to other parts
of the body).
- Metastatic or Gleason score 7+ prostate cancer.
- A current lifetime history of 10+ cumulative colon polyps.
- Anyone of Ashkenazi Jewish ancestry with a personal or family history of
breast cancer at any age.
What is the genetic counseling process?
• Pre-test counseling: an initial consultation with a genetic counselor
to review personal and family history and determine the best genetic testing
options for you. If genetic testing is not pursued, then a cancer risk
assessment and personalized risk reduction management recommendations
for the patient and family members will be made based on the personal
and/or family history of cancer.
• If genetic testing is pursued, coordination of sample collection
for recommended or selected genetic testing may begin at the end of the
• Post-test counseling: a second consultation with a genetic counselor
to provide genetic test results and interpretation as well as cancer risk
assessment and personalized risk reduction management recommendations
for the patient and family members based on the combined evidence of the
genetic test results as well as the personal and/or family history of cancer.
What should I expect during my initial genetic consultation?
A genetic counseling appointment lasts about one hour. During the consultation,
the genetic counselor will evaluate your personal medical history, review
your family history, and draw a 3-4 generation family tree. The genetic
counselor will use this information to create a personalized risk assessment
and will have a comprehensive discussion with you regarding:
- what genetic test , if any, is indicated or most useful for you or your
- the likelihood of detecting a mutation causing an inherited syndrome within
- the risk of developing disease based on your personal and family history
- strategies to reduce or manage risk
If you elect to proceed with genetic testing, a blood or salvia sample
can be collected during your initial consultation.
I just want genetic testing, why would I want genetic counseling too?
Genetic testing is just one tool that genetic counselors use to provide
you with the very best in personalized medicine that genetic testing alone
cannot provide. Genetic counselors are genetic experts and remain up-to-date
on the constantly changing field of genetics. They are trained to tailor,
translate, and communicate complex genetic information into practical,
accurate, and understandable decision-making information that you, your
relatives, and your healthcare team can use to provide the best in individualized
healthcare management. They help you to insure the very best outcomes
for you and your relatives.
How long does it take to get genetic test results?
On average, genetic test results are available within 2-3 weeks.
I've already had cancer, how can genetic counseling and genetic testing
help me now?
Many patients who benefit from genetic counseling and genetic testing have
had a recent or previous diagnosis of cancer. They would like to understand
their remaining lifetime risks of developing additional cancers and also,
often primarily, would like to understand the cancer risks to their children,
siblings and other relatives. Genetic testing may help to rule out an
inherited cancer syndrome, may provide an explanation for the occurrence/s
of cancer and may predict elevated risks of developing additional types
of cancer. Genetic counselors utilize genetic test results and cancer
history information to provide recommendations to help prevent future
cancers from occurring and can provide support and risk assessment information
to advise children, siblings and other relatives of their inherited and
familial cancer risks.
I’ve already had genetic counseling, when should I come back?
Continued contact with genetic professionals is advised for many individuals
who have already had genetic counseling and/or genetic testing. Over time,
new technologies are developed, new genes become available for testing,
insurance criteria for testing may change making testing more accessible,
and management updates for mutation carriers become available. Additionally,
family histories change over time making reassessment of the family history
beneficial. We recommend having genetic counseling if you have significant
family history and you’ve already had genetic testing without seeing
a genetic counselor. If you’ve previously had negative genetic test
results, we recommend contacting your genetic counselor every 3-5 years
to consider returning for updated testing and risk assessment. If your
family history has changed and has renewed your concern or if your relative/s
have had genetic testing, we recommend updating your genetic counselor
with your new family history. If you’ve previously had genetic test
results that identified a deleterious or pathogenic mutation or identified
a genetic variant of unknown significance, we recommend contacting your
genetic counselor every 1-2 years for updated management recommendations
or updated variant classification information.
My doctor already did genetic testing on my cancer tissue, do I need more testing?
Genetic testing for tumor molecular profiling is different than genetic
testing for inherited cancer risk. Cancer is due to an accumulation of
genetic mutations within the cells of a particular part of the body such
as within the breast, resulting in breast cancer, within the colon, resulting
in colon cancer, within the lung, resulting in lung cancer, etc. Genetic
testing of cancer tissue helps to characterize the tumor. On the other
hand, genetic testing for inherited risk is performed on healthy, noncancerous
tissue, such as the white blood cells found in your blood or saliva, and
are representative of the genetic composition you were born with (inherited)
and may pass down to future generations. The cells that represent inheritance
are referred to as the germline and genetic testing of these cells can
help to identify or rule out inherited mutations. Genetic mutations found
in cancer tissue may be beneficial for prognostic or treatment purposes;
however, these tests may or may not identify inherited mutations. A genetic
counselor can review tumor genetic test results as well as germline genetic
test results in conjunction with your personal and family history to help
you understand your risk for an inherited cancer susceptibility syndrome.
Can I have genetic counseling and genetic testing for other conditions?
Many patients are concerned about family histories of diseases other than
cancer. Our genetic counselors are qualified genetics professionals for
all types of inherited risks and are prepared to discuss the risk of developing
other disorders of familial concern including cardiac and adult neurologic
Does insurance cover genetic counseling and testing?
The vast majority of patients have insurance coverage for genetic counseling
and genetic testing. Our patient account specialists verify coverage prior
to the consultation and alert us if genetic counseling is not a covered
benefit. Individuals may also check eligibility and co-pay information
by calling their insurance provider. As the benefit of, criteria for,
and type of genetic testing will be determined during the initial consultation,
insurance authorization for genetic testing is not performed prior to
the appointment. However, genetic counselors are very knowledgeable about
each insurance provider’s genetic testing criteria and genetic laboratories
can pre-verify coverage for the specific genetic test ordered.
What is genetic discrimination?
Although rare, genetic discrimination occurs when people are treated differently
by their insurance company or employer because they carry a gene mutation
that increases their risk of developing an inherited disorder. Thankfully,
there are federal and state laws that provide protection against genetic
discrimination. The Genetic Information Nondiscrimination Act (GINA) of
2008 is a federal law that protects people from health insurance eligibility
discrimination including additional fees or costs and also protects from
employment discrimination. GINA does not protect against all forms of
genetic discrimination and does not specify protection from other insurance
discrimination such as life, disability, and long-term care.