Clinical Genetic Services
The Cancer Genetics Program at St. Joseph Hospital helps patients and families
with a history of cancer to better understand and manage their cancer
risks. Genetics is a dynamic and quickly evolving field that supports
individualized wellness and prevention. At the leading edge of precision
medicine, our genetic counselors provide personalized management recommendations
that shift the focus from fear to empowerment. Appointments include:
- Comprehensive genetic counseling and genetic risk assessment
- Thorough review of personal and family history
- An explanation of inherited syndromes and familial cancer risk
- Selection and interpretation of clinically valid and appropriate genetic testing
- Personalized risk management and cancer prevention plan
- Discussion of updated national guidelines and management options
- Additional risk estimates and recommendations for close family members
- Detailed consultation report
Genetic Risk Assessment and Genetic Testing
Individuals concerned about their personal and/or family history of cancer
may benefit from genetic counseling, consideration of genetic testing,
and receiving a genetic risk assessment. Our clinical genetic services
may be particularly beneficial for individuals who have a personal and/or
family history that include:
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.
To schedule an appointment: 714-734-6229 (phone) and 714-734-6218 (fax)
A physician referral may be faxed to 714-734-6218. The Cancer Genetics
Program may also be reached directly by phone at 714-734-6229 to schedule
an appointment or for physician referral assistance. Prior to the appointment,
a brief telephone interview is completed to review personal and family
history and to answer questions about our genetic counseling services.
All new patients are asked to complete an in-depth personal and family
history questionnaire in preparation for their consultation.
An initial cancer genetic consultation typically takes an hour. During
the consultation, the genetic counselor reviews the individual's personal
medical history and construct a three to four generation family tree.
The genetic counselor will use this information to create a tailored risk
assessment and will have a comprehensive discussion with regarding:
The likelihood that the patient or relatives may have inherited a genetic
The risk of developing cancer based on personal and family history
The risk of developing a second primary cancer
Relatives’ risks of developing cancer
The options of genetic testing and identification of the most informative
individual/s to test within the family
If patient elects to proceed with genetic testing, a blood or salvia sample
will be taken during the initial consultation.
If a patient elects to pursue genetic testing during their initial genetic
counseling consultation, the genetic counselor and patient will discuss
the number and types of genes that will be tested. The genetic test involves
obtaining a DNA sample either by a small blood or saliva sample, which
is sent to a genetic laboratory. The genetic laboratory examines a specified
set of genes to look for any "errors" or mutations that cause
a gene to fail to work properly. These types of gene mutations indicate
that a patient is at increased risk of developing certain types of cancers.
In addition, his or her family members may carry the same gene mutation
and thus also have increased risks for certain types of cancers.
Test results from a genetic test are typically received within 2-3 weeks.
Once results are available, the genetic counselor will call the patient
to inform him/her of the results and to offer a second consultation (approximately
½ hour). During the results phone call or second visit, the genetic
test results and interpretation of the results are reviewed and individualized
screening and prevention recommendations are provided for the patient
and family members.
Reports and Confidentiality
Genetic counseling consultation reports and genetic test results are provided
to the patient, referring physician, and any additional patient-requested
physicians or relatives. All personal and family information and genetic
test results are confidential and will not be released without the patient's
prior written or verbal consent.
Some patients have expressed concerns that insurance companies may use
genetic information to discriminate against them. In fact, there are federal
and state laws that provide protection against genetic discrimination
and there are no documented cases of genetic discrimination following
genetic counseling or testing for cancer risk. The Genetic Information
Nondiscrimination Act (GINA) of 2008 is a federal law that protects people
from health insurance eligibility and cost discrimination and also protects
people from employment discrimination. Our Genetic Counselors can provide
more information about this during the consultation. To learn more about
GINA, please visit the Coalition for Genetic Fairness:
Our genetic counselors explore meaningful research options, both locally
and nationally, to identify genetic research opportunities that may benefit
our patients and their families. Research participation is completely
voluntary and is typically offered when specific personal and/or family
history meets study criteria and therefore provides the most meaningful